CREST (calcinosis, Raynaud phenomenon, esophageal dysmotility, sclerodactyly, and telangiectasia) syndrome is a member of the heterogeneous group of sclerodermas, and its name is an acronym for the cardinal clinical features of the syndrome.[1]
In 1910, Thibierge and Weissenbach described the first case report of what was later called CRST (calcinosis cutis, Raynaud phenomenon, sclerodactyly, and telangiectasia) syndrome in English by Winterbauer who, in 1964, described a series of 8 patients with the features that make up the abbreviation CRST.[2, 3] Although he noted esophageal dysmotility in 4 of 8 patients, he did not include this feature in his original description of CRST syndrome. Frayha et al[4] noted the frequent occurrence of esophageal dysmotility and suggested that the acronym CREST may be more appropriate. Velayos et al[5] reviewed 13 patients with CREST and CRST syndromes and found the syndromes equivalent.
The 1980 American College of Rheumatology Classification Criteria for Rheumatic Diseases is the most widely used system for systemic scleroderma. Because it was designed for research applications and not for clinical diagnosis, it has been criticized for its low sensitivity in identifying early disease and milder forms of systemic scleroderma such as CREST syndrome. Several authors recognized this limitation and responded by categorizing patients with scleroderma syndromes into 2 groups: those with diffuse cutaneous scleroderma and those with a limited form of scleroderma.[6, 7, 8]
Others have shown that visceral involvement, poorer prognosis, and higher mortality are all more common in patients with diffuse disease.[9, 10, 11, 12] Several new classification systems may better categorize the wide spectrum of systemic scleroderma.
In 2004, Nadashkevich et al[13] proposed the classification criteria (1) autoantibodies to centromere proteins, Scl-70 (topo I) and fibrillarin; (2) bibasilar pulmonary fibrosis; (3) contractures of the digital joints or the prayer sign; (4) dermal thickening proximal to the wrists; (5) calcinosis cutis; (6) Raynaud phenomenon (at least a 2-phase color change); (7) esophageal distal hypomotility or reflux esophagitis; (8) sclerodactyly or nonpitting digital edema; and (9) telangiectasias, which can be remembered by the abbreviation ABCDCREST. Fulfilling 3 or more criteria indicates definite systemic scleroderma with a sensitivity and specificity as high as 99% and 100%, respectively.
Also in 2004, Maricq and Valter[14] had a complex but potentially very useful proposal for classifying the scleroderma spectrum disorders; however, in 2005, Wollheim[15] reported that without substantial independent confirmatory work, this classification system may not gain widespread acceptance in its present form.
The Maricq and Valter[14] proposed classification for scleroderma spectrum disease is as follows:
Three primary pathologic features are found in scleroderma and include increased collagen deposition, perivascular mononuclear cell infiltration, and vascular abnormalities.
The pathologic hallmark of scleroderma is progressive fibrosis of tissues. Collagen (types I, III, IV, and VII), fibronectin, glycosaminoglycans, and proteoglycans are deposited in the interstitium and in the intima of small arteries.[16] Fibrosis is found in clinically affected and unaffected tissue.
Skin fibroblasts in patients with scleroderma act as if they are persistently activated. Higher levels of COL1A2 mRNA (gene encoding alpha-2 chain of type I procollagen) are found in the dermis of scleroderma patients compared with patients without scleroderma, and down-regulation of fibroblast collagen synthesis by collagen amino-terminal peptides is impaired.
Mononuclear infiltration probably precedes fibrosis of tissues. Histologic specimens from patients with disease duration of less than 2 years show mononuclear infiltration near blood vessels and dermal appendages. While this inflammatory infiltrate can accompany fibrosis in tissues, it can also be present without fibrosis, suggesting that it is an early event in the pathogenesis of scleroderma.
CD4 lymphocytes predominate in the inflammatory infiltrate. Suppressor T cells are diminished in number. Macrophages are present in higher numbers, as are eosinophils, basophils, mast cells, and B cells. These cells secrete a variety of cytokines, the balance of which is important in the pathogenesis of fibrosis.
Several cytokines have been implicated in the development of fibrosis. Transforming growth factor-beta (TGF-beta) stimulates collagen synthesis, and plasma levels of this cytokine are elevated in scleroderma patients (both limited and diffuse scleroderma). Fibroblasts from the skin of scleroderma patients express increased amounts of mRNA for TGF-beta and secrete higher levels of TGF-beta. Furthermore, these fibroblasts are not as sensitive as normal fibroblasts to stimulation by exogenous TGF-beta, suggesting that they are already maximally stimulated. TGF-beta3 in particular has been suggested as having a major role in the pathogenesis of the calcinosis often seen in persons with systemic sclerosis.[17]
Sera from patients with systemic scleroderma contain enhanced concentrations of granulocyte macrophage colony-stimulating factor (GM-CSF). Incubating GM-CSF with dermal fibroblasts from systemic scleroderma patients decreases type I collagen mRNA levels and collagen synthesis while increasing the production of other extracellular matrix proteins such as fibronectin and tenascin.[18]
Interleukin 4, a potent stimulator of collagen synthesis, is overexpressed in scleroderma skin. Scleroderma patients have normal or reduced levels of interferon-gamma (IFN-gamma), an inhibitor of collagen synthesis, in the skin. Interleukin 4 is produced by T helper-2 (TH2) cells, and IFN-gamma is produced by T helper-1 (TH1) cells. Scleroderma fibroblasts may be responding to an imbalance in these usual regulatory cytokines as a result of a predominance of TH2 cell activity.
Other cytokine perturbations have been demonstrated. Scleroderma fibroblasts secrete a higher basal level of connective tissue growth factor (CTGF) than normal fibroblasts. Scleroderma fibroblasts are less responsive to tumor necrosis factor-alpha, which normally acts to suppress CTGF expression.
Serum tissue inhibitor of metalloproteinase-1 (TIMP-1) levels are elevated in scleroderma patients compared with normal controls. This may allow progressive fibrosis to result because of a relative lack of collagenase activity. TIMP-1 may behave as an autocrine growth factor in the fibrotic process of scleroderma.[19] Recently, the protease nexin-1 gene (PN1) has been found to be overexpressed in systemic sclerosis fibroblasts. PN1 plays an important role in the regulation of cell growth, differentiation, and cell death by modulating proteolytic activity; in vitro evidence suggests it inhibits metalloproteinase activation.[20]
Vascular abnormalities are also likely to be an early contributor to the pathogenesis of scleroderma. Pericytes, the smooth muscle–like mural cells of capillaries and venules, synthesize matrix components and fibroblast-activating cytokines; thus, they are potential mediators of pathological changes in scleroderma. Pericyte density is increased in the microvasculature of the peripheral zones of active disease.[21] Clinically, microvascular changes are apparent in the nailfold capillaries as larger tufted capillaries and areas of dropout. The vasospastic phenomenon of Raynaud is present in most scleroderma patients.
Endothelial cell injury and dysfunction, intimal proliferation, thrombocytosis, elevated factor VIII-von Willebrand factor levels, and vasospasm are found in scleroderma patients and result in vascular compromise. Elevated levels of platelet-derived growth factor (PDGF) and increased expression of PDGF type-B receptors are found in the skin of scleroderma patients.[22, 23] Ischemia is an important contributor to end organ damage in scleroderma patients.
Animal models of scleroderma may help identify abnormalities in human scleroderma. The tight skin mouse model of scleroderma (Tsk1) is characterized by increased collagen deposition in the skin and some internal organs, as well as antinuclear antibody (ANA) production. The defect is a heterozygous mutation in the fibrillin-1 gene. A 1996 haplotype analysis of Choctaw Native Americans (who have a 50-fold increase in the prevalence of scleroderma) has demonstrated linkage between the fibrillin gene locus and the scleroderma phenotype. How a defect in fibrillin, an extracellular matrix component, may be involved in the pathogenesis of scleroderma is unclear.
An avian model, the UCD-200 chicken, develops fibrosis of the skin and internal organs and the presence of ANAs. Affected chickens develop vascular occlusion and severe perivascular lymphocytic infiltration of the skin and internal organs. These studies suggest that early pathogenetic events in scleroderma are endothelial abnormalities. Antiendothelial cell antibodies trigger both apoptosis and increased adhesion molecule expression on endothelial cells, resulting in perivascular accumulation of mononuclear cells.
In summary, while the primary trigger for CREST syndrome is not known, a reasonable speculation is that vascular endothelial cell abnormalities incite mononuclear infiltration, and the resulting perturbations in TH1 and/or TH2 cell and cytokine balance result in abnormal fibroblast activity and increased collagen deposition.
Nelson[24] has suggested the role of microchimerism in the pathogenesis of scleroderma, because of the similarity of scleroderma to chronic graft versus host disease and the frequent onset of scleroderma in women after their childbearing years. Microchimerism indeed occurs to a greater degree in persons with scleroderma or other autoimmune disorders than in healthy patients. A causal linkage between microchimerism and autoimmune disorders has not been demonstrated.
The cause of limited scleroderma is yet to be determined. Studies of genetic factors show only rare occasions of multicase families. HLA associations are present but are not strong. These include HLA-DRB*01, HLADRB*11, HLA-A*30, and HLA-A*32 showing increased susceptibility to scleroderma and HLA-DRB*07, HLA-B*57, and HLA-Cw*14 being protective.[25]
The predominance of cases occurring in women after their childbearing years and the similar clinical presentation of scleroderma to graft versus host disease has suggested the importance of fetal/maternal microchimerism in the etiology of scleroderma.
Environmental factors also are likely important. Some similarities in clinical presentation occur with L-tryptophan and rapeseed oil exposure. Certain occupations have been linked to an increased risk to systemic sclerosis, including female teachers, female textile workers, and construction workers. Exposure to silica, synthetic adhesives, solvents (including chlorinated solvents, aromatic solvents, white spirit, toluene, trichloroethylene, formaldehyde, vinyl chloride, and cleaning products) have been implicated in a higher risk of developing systemic sclerosis. Interestingly, the use of vibrating tools was also found to increase the risk of systemic sclerosis.[26, 27]
The pathogenesis of calcinosis, Raynaud phenomenon, esophageal dysmotility, and sclerodactyly are described in more detail.
Ultrastructural study of calcifications from patients with CREST syndrome demonstrates calcium apatite crystals. Serum calcium, phosphorus, and alkaline phosphatase levels typically are normal; therefore, the calcifications are considered dystrophic.
Elevated levels of gamma-carboxyglutamic acid (Gla), a calcium-binding amino acid found in vitamin K–dependent clotting factors, are present in the urine and the involved tissues of patients with calcinosis. Gla and other calcium-binding proteins may be deposited abnormally in soft tissues during clotting. The occurrence of calcinosis at sites of repeated trauma appears to support this idea.
Microvascular abnormalities and dysfunction are central to the pathogenesis of scleroderma-associated Raynaud phenomenon.
Endothelial injury is believed to result in intimal hyperplasia and fibrosis, concentric narrowing of digital arteries by as much as 75-80%, and occlusion by intravascular thrombi.
Resting blood flow in fingers was lower in scleroderma patients compared with normal controls as measured by laser Doppler flowmeter. Arteries from scleroderma patients have significantly increased sensitivity to alpha2-adenoreceptor–mediated vasoconstriction. Whether this is a consequence or cause of endothelial cell injury and dysfunction is unclear.
Endothelin, a naturally occurring peptide, has been implicated as a pathologic mediator of vasoconstriction, fibrosis, vascular hypertrophy, and inflammation in patients with Raynaud syndrome.[28]
The earliest abnormality in the involved gut of scleroderma patients is dysmotility secondary to nerve injury, perhaps resulting from arteriolar changes in the vasa nervorum or compressive nerve damage via collagen deposits. Smooth muscle atrophy occurs later (and often marks the beginning of symptoms).
The predilection for smooth muscle rather than striated muscle atrophy explains the distribution of anatomic involvement. The proximal esophagus primarily is striated muscle and remains essentially uninvolved. The esophagus typically is weakly responsive to prokinetic therapy, until, according to Sjogren,[29] the final stage of the disease (fibrotic infiltration of muscle) halts the response to medications.
The consequences of esophageal dysmotility are reflux and its complications. The reduced LES pressure in patients with scleroderma likely allows acid reflux, which is exacerbated by delayed clearance of acid from the esophagus because of abnormal distal motility. This creates an environment in which stricture, Barrett esophagus, adenocarcinoma,[30] or aspiration may supervene.
The relationship of Raynaud phenomenon to esophageal dysmotility is interesting. Cold-induced vasospasm of the hands also results in esophageal dysmotility, and reversal of this vasospasm with reserpine reverses both peripheral Raynaud phenomenon and abnormalities in esophageal motility (as reported by Sjogren[29] in 1994); however, patients with primary Raynaud phenomenon do not tend to have esophageal dysmotility. Therefore, the significance of these observations remains to be determined.[31]
The development of sclerodactyly begins with a perivascular inflammatory infiltrate in the dermis. The trigger for this inflammatory process is not known.
The edematous phase of skin involvement results from mucopolysaccharide, glycoprotein, and collagen (types I and III) deposition in the dermis.
As collagen deposition continues, the dermis becomes more sclerotic than edematous. Meanwhile, a similar process occurs in small arteries. Mucinous deposition occurs in the intima. The adventitia is infiltrated first with inflammatory cells, and then it becomes fibrotic. This process results in narrowing of the artery and then arterial collapse or thrombosis. The tissue then becomes ischemic.
Years after the onset of skin changes, fibrosis usually subsides, leaving atrophic skin.
United States
The incidence of systemic sclerosis approximates 2.7-19.3 new cases per million adults per year. The prevalence is 253-286 cases per million persons.[32] The highest prevalence has been reported in a Choctaw Native American Group in Oklahoma (660 cases per million, based on 14 cases).[33] The apparent increase in both incidence and prevalence over the past 50 years is most likely an artifact of better classification, earlier diagnosis, and improved survival. Some serum antibody studies suggest that CREST syndrome may account for 22-25% of all cases of systemic sclerosis; however, epidemiologic studies specifically looking at CREST syndrome are lacking.[32, 33, 34, 35]
International
In other countries, the incidence of systemic sclerosis is slightly lower than in the United States. In Iceland, systemic sclerosis occurs In 3.8 patients per million per year; a high percentage of patients in this population have limited forms of scleroderma. The incidence in Russia is 7 cases per million adults per year, in England is 3.7 cases per million per year, in Greece is 11 cases per million per year, and in New Zealand is 2.3 cases per million per year. Disease prevalence is slightly lower in other countries compared with the United States; in Greece it is 154 cases per million, in the United Kingdom is it 82 cases per million, in France it is 158 cases per million, and in Australia it is 86-233 cases per million.[12, 36, 32, 37, 38, 39, 40]
Both the prevalence and incidence of systemic sclerosis is higher in blacks than in whites. The prevalence of diffuse disease among black patients is nearly twice that of white patients. Survival for black patients versus nonblack patients is marginally worse during the first 12 years after diagnosis, but, in general, survival for both groups is comparable.[32]
Some Choctaw Native American and Thai populations are more likely to have diffuse disease, while some European and white Australian groups have more limited disease.
Females have a greater incidence of scleroderma than males. This difference appears greater during childbearing years. Mayes et al[32] reported an overall female-to-male ratio of 4.6:1.
The usual age of onset of scleroderma is approximately 30-65 years. Black women tend to present at an earlier age.
In a large 2003 US study by Mayes et al,[32] the survival rate from time of diagnosis was computed to be 77.9% at 5 years, 55.1% at 10 years, 37.4% at 15 years, and 26.8% at 20 years. The extent of skin involvement is a good predictor of survival in patients with scleroderma.
Limited cutaneous disease (as defined by Medsger[41] in 1997) is associated with a better survival rate than diffuse disease.[12, 11] Similarly, patients with sclerodactyly alone have better survival rates than patients with truncal skin involvement.[7] Calcinosis cutis may be problematic, even in patients with limited cutaneous disease.[42]
Renal involvement is responsible for half of all scleroderma-related deaths in patients with widespread skin changes, while patients with sclerodactyly alone do not tend to develop any type of renal disease.
The mortality in patients with limited skin involvement results from cardiac, pulmonary, and GI causes.
In the typical course of limited scleroderma, the patient first notices Raynaud phenomenon. Over time (usually years), fingers become puffy, then the skin thickens slowly. Internal organ manifestations are delayed for many years.
Calcinosis is the pathologic calcification of soft tissues. The calcific deposits can be subclinical. When symptomatic, they can be tender and painful. They can ulcerate, drain a white chalky substance, and become secondarily infected. Inflammatory reactions intermittently occur at the site of calcinosis. Paraspinal calcifications rarely occur, causing local pain, radiculopathy, and diffuse weakness.
Maurice Raynaud defined Raynaud phenomenon in 1862. He observed episodes of pallor, cyanosis, and/or rubor on the hands bilaterally in response to cold or emotional stress, in the setting of normal proximal arterial pulsations, and without gangrene.
Patients occasionally describe color changes proximally as far as the wrist. Less frequently, the feet are involved. Rarely, the nose and ears can be affected. Involved skin is cool during the attack, but the proximal skin is warm. Color changes are often accompanied by symptoms that can include pain and paresthesias. The phenomenon lasts minutes to hours, and the patient is symptom-free between episodes.
While the entire intestine can be involved in scleroderma, esophageal involvement is most common and most often clinically relevant.
According to Akesson and Wollheim from 1989,[43] dysmotility is common. Cine-esophagram and radionuclide transit time studies demonstrate hypomotility in as many as 75-86% of patients with CREST syndrome. All patients have normal motility of the proximal esophagus, which primarily is striated muscle.
In 1987, Zamost et al[44] correlated esophageal symptoms with anatomic and physiologic measurements in 53 patients with scleroderma. The prevalence of esophagitis and strictures (41%) in this patient population is higher than in otherwise healthy patients with gastroesophageal reflux disease. Abnormal motility was a significant predictor of erosive esophagitis; 70% of patients with dysmotility had gross or microscopic evidence of erosive esophagitis. No patients with normal motility had erosive esophagitis. Symptoms of heartburn and dysphagia were more common in patients with erosive esophagitis. Heartburn alone did not predict esophagitis; half the patients without this complication still experienced heartburn. Additionally, dysphagia did not predict the presence of stricture.
Barrett esophagitis, a complication of gastroesophageal reflux, has been found in scleroderma patients, perhaps at a higher rate (37% in patients with scleroderma vs 4-13% in patients without scleroderma). Esophageal adenocarcinoma, a malignant transformation of Barrett esophagitis, has also been documented in scleroderma patients.
Another potential complication of esophageal dysmotility and gastroesophageal reflux is occult aspiration and pulmonary disease. In 1989, Johnson et al[45] examined 13 patients with systemic sclerosis using endoscopy, laryngoscopy, esophageal manometry, 24-hour esophageal pH monitoring, pulmonary function testing, and aspiration scanning. All 13 patients had endoscopic evidence of reflux. Twelve patients had abnormal laryngeal examination findings suggestive of aspiration; however, in this group, 1 patient had no evidence of proximal reflux by pH monitoring and 2 patients had normal aspiration scan results. Nonetheless, an inverse relationship was found between diffusing capacity of lung for carbon dioxide and esophageal reflux scores, indicating that gastroesophageal reflux potentially contributes to diminished pulmonary function.
Sclerodactyly means thickening of the skin of the digits of the hands and feet. Three phases of skin changes are seen in scleroderma: the edematous phase, indurative phase, and atrophic phase.
Patients with early scleroderma present with puffy edema in the fingers and may report morning stiffness or arthralgias. The edematous phase is usually short (ie, months, but occasionally years).
In the indurative phase, the skin becomes thickened. Patients may report pruritus. The skin appears shiny and tight. Skin creases are lost. Erythema may be present. In limited scleroderma, this process continues slowly for many years.
Late in the course of scleroderma, the skin becomes fragile and lax as it enters the atrophic phase.
Patients with limited scleroderma find that the advancement of skin disease occurs slowly, over many years. By definition, skin involvement remains distal to the elbows and knees, although it can involve the face and neck.
Telangiectases are lesions formed by collections of dilated blood vessels and may be highlighted by dermoscopy.[46]
In scleroderma patients, telangiectases occur on the face, upper trunk, and hands.
They also occur on mucosal surfaces (eg, lips) and throughout the GI tract and may be symptomatic. These were the most common cause of bleeding in a series of 144 patients with scleroderma (diffuse and limited disease). Telangiectases were associated with recurrent GI bleeding in 7 patients in this group. This bleeding can be chronic and cause anemia.[47]
Arthralgias are common (90% of patients), but erosive arthritis is rare. Proximal muscle weakness can occur.
Pulmonary hypertension most often occurs in the absence of interstitial fibrosis in approximately 3-14% of CREST syndrome patients. It is a very late event and the prognosis is poor, with a mortality rate of 50% after 2 years.[48] Symptoms heralding this phenomenon include dyspnea on exertion and cough.
Myocardial involvement is rare in patients with limited scleroderma; however, patchy fibrosis in the myocardium can occur and typically is asymptomatic. Significant myocardial involvement manifests as dyspnea on exertion, fatigue, and palpitations. Arrhythmias and conduction abnormalities can occur.[49]
Primary biliary cirrhosis may be associated with CREST syndrome.[50, 51]
Renal crises rarely occur in persons with limited scleroderma (1%); they manifest accelerated hypertension, renal failure, and microangiopathic hemolytic anemia.
Entrapment neurologic syndromes (eg, carpal tunnel syndrome) occur. Autonomic dysfunction of the GI tract also occurs.
Sicca symptoms are present in approximately 35% of patients. Of patients with sicca symptoms, half have anti-Ro (SSA) or anti-La (SSB) antibodies.
Scleroderma is associated with an increased risk of cancer, in particular lung cancer.[52]
In scleroderma, calcific deposits are found predominantly in the extremities, around joints, and around bony prominences. Osteonecrosis has also been reported.[53]
Deposits typically are found in the flexor surfaces of the hands and the extensor surfaces of the forearms and knees.
The deposits rest in the dermis but can be found in deeper periarticular tissues.
View Image | Calcinosis on dorsal forearm. |
View Image | Close-up view of calcinosis. |
Triphasic color changes of pallor, cyanosis, and erythema represent phases of vasoconstriction, slow blood flow, and reperfusion, respectively.
Color changes extend proximally from the tips of digits to various levels, with a well-demarcated border.
View Image | Raynaud phenomenon showing pallor of most of the finger tips with a violaceous discoloration (hyperemia) of the thumb tip. |
The earliest change in the distal esophagus (primarily smooth muscle) is an uncoordinated disorganized pattern of contractions resulting in low amplitude or absent peristalsis.
Lower esophageal sphincter (LES) pressure typically is lower than in healthy controls, and incomplete relaxation of the LES occurs.[29]
The process typically begins in the distal fingers and advances proximally.
The process also may occur on the face, over the forehead, and around the mouth. Facial involvement can lead to a mauskopf (mouse head) appearance. Lips become thinner, and radial furrowing develops around the mouth. The oral aperture is reduced in size (microstomia). Wrinkles over the forehead diminish.
View Image | Sclerodactyly (also with Raynaud phenomenon). |
View Image | Sclerodactyly. |
These are flat and nonpulsatile and typically have a rectangular or elongated shape. The vessels are so close together that they appear as discrete mats.
View Image | Telangiectasia of the face. |
View Image | Telangiectasia of the lip. |
View Image | Telangiectasia of the finger. |
View Image | Close-up view of telangiectasia. |
Limited disease is associated with better survival rates than diffuse disease (50% at 12 y compared to 15% for diffuse scleroderma).
Renal involvement is responsible for half the scleroderma-related deaths in patients with widespread skin changes, while patients with sclerodactyly alone do not tend to develop any renal disease.
Mortality in patients with limited skin involvement is a result of cardiac, pulmonary, and GI causes.
Laboratory studies are as follows:
Imaging studies are as follows:
Other tests that may be needed are as follows:
The diagnosis of CREST syndrome carries with it both physical and psychological consequences, so a holistic approach to patient care should be taken. An evaluation of organ involvement, patient education regarding the clinical course, patient and family support, and treatment based on disease severity and organ involvement are necessary.[60, 61]
A pilot study of multidisciplinary patient education for persons with systemic sclerosis showed that patients may benefit from meeting others with the disease, may learn more about the disease, and may actually experience some pain relief.[62]
Depression affects approximately 45% of patients with systemic sclerosis and 64% also develop anxiety; thus, early assessment and treatment of these psychological issues is recommended.[63, 64]
European investigators have been conducting phase I and II studies on the use of hematopoietic stem cell transplantation for severe systemic sclerosis, and randomized trials are proceeding. Only further research and time will tell if this is a useful therapy for severe scleroderma in the future.[65]
Tamoxifen has been studied for use in patients with scleroderma and CREST syndrome, but it was not shown to be efficacious.[66]
No large, prospective, placebo-controlled trials have been performed to study the treatment of calcinosis. The literature predominantly consists of reports and series. Therefore, keep in mind that calcinosis has resolved spontaneously in as many as 55% of patients in some series, as noted by Fink and Cook in 1986.[67] Simple surgical management, including curettage, is often sufficient in limited disease.[68]
Treatment with oral corticosteroids is not usually considered effective, but, according to Hazen et al,[69] intralesional corticosteroid therapy has been associated with improvement of calcinosis.
Several case reports have demonstrated the efficacy of probenecid.
Early case reports suggested that diltiazem was associated with regression of calcific deposits and improvement of symptoms. A 1998 case series of 12 patients by Vayssairat et al[70] did not confirm these findings.
A 1987 small randomized placebo-controlled trial by Berger et al[71] using low-dose warfarin reduced urinary levels of Gla protein and reduced extraskeletal uptake on bone scans in 2 of 3 patients after 18 months of follow-up care. No changes in plain radiographs or clinical assessment were noted in these patients. Cukierman et al[72] used low-dose dose warfarin on 3 patients with systemic sclerosis, and 2 of the patients, who had newly diagnosed, diffuse, and relatively small calcinotic lesions, responded to warfarin treatment, with complete resolution of the calcinosis. As reported in 1998, Lassoued et al[73] used warfarin in patients with extensive calcinosis and saw no benefit. Low-dose warfarin may be helpful in selected patients with early or mild disease.
Several case reports have shown that aluminum hydroxide may be useful for calcinosis.[74]
Bisphosphonate treatment has had only limited success. Etidronate appeared to help calcinosis in one patient with scleroderma; however, another study reported failure. Alendronate was used successfully in one patient with calcinosis associated with juvenile dermatomyositis. The other bisphosphonates, pamidronate, risedronate, zoledronate, and ibandronate, have not been studied for calcinosis.[74, 75, 76, 77]
In one case series, 8 of 9 patients with limited systemic sclerosis had a good response to low-dose minocycline.[78]
Suppression of intermittent local inflammatory reactions can be achieved by low-dose colchicine.[79]
Kalajian et al found intravenous immunoglobulin therapy to be unreliable.[80]
In summary, no consistently reliable pharmacological treatment seems to be available to prevent or eliminate calcinosis. One or a combination of the above treatments may be tried on a case-by-case basis; however, larger randomized trials are needed to prove efficacy.
Advise all patients with Raynaud phenomenon to use good hand and body warming techniques. Goodfield et al[81] have shown that according to laser Doppler flowmetry, secondary Raynaud phenomenon patients respond appropriately to simple warming techniques compared with controls. Reinforce the wearing of gloves, a hat, and a coat outdoors and, if necessary, indoors. The importance of keeping the core body and hand temperature elevated cannot be overemphasized.
Behavior therapy, including temperature biofeedback and autogenic training, has been evaluated in the treatment of scleroderma-associated Raynaud phenomenon. In 1989, Freedman[82] demonstrated an improvement of finger blood flow and elevation of finger temperature with biofeedback training. A large, randomized, controlled trial, however, showed no clinical benefit with temperature biofeedback; however, this has been criticized because the patients may not have been adequately trained in the technique.[83] These researchers[83] claim that thermal biofeedback is efficacious if proper hand warming technique is used.
Calcium channel blockers are the mainstay of medical therapy for Raynaud phenomenon. Short-acting calcium channel blockers have been effective, yet they are frequently associated with adverse effects (eg, headache, flushing, dizziness, edema). In a recent study by the Raynaud's Treatment Study Investigators, sustained-release nifedipine reduced attack frequency by approximately 60% and was well tolerated. Some literature has suggested that calcium channel blockers are less effective in scleroderma-associated Raynaud phenomenon than in primary Raynaud disease, but Meyrick Thomas et al[84] demonstrated the effectiveness of nifedipine in this group in a longer-duration trial. A 2005 meta-analysis of calcium channel blocker therapy for Raynaud phenomenon by Thompson et al[85] showed a small benefit in reducing the severity and frequency of ischemic attacks (an average of 2.8-5 fewer attacks/wk and a 33% reduction in severity).
Topical nitroglycerin and topical glyceryl trinitrate have been used in patients with Raynaud phenomenon. Several studies have shown that they both increase blood flow at the application site and they may help with symptomatic management of vasospasms.[86, 87, 88]
Prostaglandin E1, prostacyclin I2, and iloprost (a prostacyclin-I2 analogue) have been evaluated for treatment of Raynaud phenomenon. Prostaglandins may be beneficial because of their vasodilatory and antiplatelet effects. None of these treatments is approved by the US Food and Drug Administration for the treatment of Raynaud phenomenon. Use of these agents should be reserved for patients whose Raynaud phenomenon has resulted in severe ischemia or nonhealing ulcers.
Intravenous infusions of prostacyclin I2 (epoprostenol) in patients with severe Raynaud phenomenon demonstrated substantial clinical improvement. The frequency and duration of attacks were reduced, and significant healing of digital ulcers occurred. Intravenous prostaglandin E1 (alprostadil) has been beneficial in some small studies, particularly in patients with sepsis or necrosis. Intravenous epoprostenol has also been used.[89]
Oral iloprost therapy showed a trend toward improvement of the severity and duration of attacks in patients with scleroderma. Intravenous iloprost reduced the severity, frequency, and duration of Raynaud attacks; helped with ulcer healing[90] ; and showed an increase in quality of life.[91]
Antiplatelet therapy has had mixed results. Ticlopidine showed benefit in one case and was ineffective in another study.[92] Clopidogrel has not been studied in Raynaud phenomenon. Cilostazol has shown some benefit in open-label trials, and a recent double-blinded randomized trial showed that it significantly increased the mean brachial artery diameter; however, the patient's subjective symptoms did not appear to improve.[93, 94] Recombinant tissue plasminogen activator produces only transient improvement in blood flow in patients with digital ischemia and is not recommended for Raynaud phenomenon.[95]
A 2000 pilot study by Denton et al[96] suggests that low molecular heparin may be beneficial for severe Raynaud phenomenon; however, further evaluation is necessary.
Some evidence has shown that plasma exchange may help with the symptoms of Raynaud phenomenon; however, it is unlikely to affect the disease course.[97, 98, 99]
Losartan, an angiotensin II inhibitor, has been shown in 2 trials to reduce the frequency and severity of vasospastic episodes.[100, 101] A review of the literature[102] concluded that ACE inhibitors and angiotensin II receptor blockers may provide minor relief for Raynaud phenomenon; however, the benefit is not proven to be any better than the current treatment of choice, which is calcium channel blockers.
Case reports[103, 104] have suggested that the phosphodiesterase V inhibitors, sildenafil and tadalafil, may also be effective. An open-label pilot trial of vardenafil[105] also showed promise.
Alpha-adrenergic antagonists have received some interest recently as a new treatment for Raynaud phenomenon. An experimental selective alpha(2C)-adrenergic receptor blocker was well tolerated and improved digital skin perfusion during recovery from cooling in patients with Raynaud phenomenon associated with scleroderma.[106] One case report describes a patient who paradoxically experienced worsening of Raynaud phenomenon while using the alpha-2 adrenergic antagonist yohimbine.[107] Further research is needed before the efficacy and safety of this class of drugs can be established for use in this disease.
Bosentan, an orally active competitive endothelin-1 antagonist that blocks the endothelin receptors, is being used for systemic sclerosis-associated pulmonary arterial hypertension, and this agent may also help alleviate vasospasm and prevent digital ulceration; however, clinical trials need to be performed first.[108]
A pilot study with fluoxetine and a case report on paroxetine suggest that the selective serotonin reuptake inhibitors might be effective as novel treatments for Raynaud phenomenon.[109, 110]
The following therapeutic ladder is suggested for the treatment of patients with Raynaud phenomenon:
The treatment of esophageal dysmotility and gastroesophageal reflux in scleroderma patients is the same as in patients without scleroderma. Systemic immunosuppressants are not helpful.
Emphasize behavior changes (eg, weight loss; elevating head of bed; reduction of caffeine, tobacco, alcohol, chocolate intake and avoidance prior to recumbency; eating small meals; waiting 3-4 h after eating before lying down).
Administration of H2 blockers (eg, ranitidine, famotidine, nizatidine) may help symptoms, but use of a proton-pump inhibitor should be instituted if erosive esophagitis is present. Motility-promoting agents may help with symptoms. Cisapride has been shown to increase lower esophageal pressure and the amplitude of esophageal contractions in healthy patients and to stimulate esophageal motility with resultant symptomatic improvement in one patient with progressive systemic sclerosis.[112]
Esophageal dilatation can help when significant dysphagia or regurgitation occur in the presence of an esophageal stricture.
Various treatment regimens including corticosteroids, nonsteroidal anti-inflammatory drugs, D-penicillamine, IFN-gamma, cyclosporine, and cytostatic drugs have been used with limited success in scleroderma.
An open-label study of calcitriol had promising results; however, a recent double-blinded, placebo-controlled trial was too small to draw any conclusions.[113] After retrospective data showed the benefits of D-penicillamine for scleroderma skin changes, Clements et al[114] performed the first randomized controlled trial of D-penicillamine in scleroderma. This trial compared high-dose D-penicillamine (750-1000 mg/d) to low-dose D-penicillamine (125 mg qod) in patients with early diffuse cutaneous scleroderma. The mean skin thickness score improved over 2 years of treatment in both groups, and no advantage was seen to using the higher dose of D-penicillamine.[114] This study had no placebo group and the authors concluded later that they were not able to tell whether either dose was effective or ineffective. D-penicillamine cannot, therefore, be recommended until placebo-controlled trials are conducted to show effectiveness.
The natural course of diffuse dermal sclerosis involves skin softening after 4-5 years; therefore, placebo-controlled trials are essential for determining an effective therapy. Skin involvement in limited scleroderma typically is not severe; therefore, attempts are not usually made to treat skin involvement.
Pulsed-dye laser treatment has been shown to be effective for the treatment of facial telangiectasia, but this has not been specifically studied in CREST patients.[115] Many treatment modalities have been used with success to treat symptomatic GI telangiectasia (eg, medical treatment with estrogen-progesterone or desmopressin, laser ablation, sclerotherapy).
Surgical excision of localized painful large deposits can relieve symptoms; recurrence is rare. Saddic et al report a case of painful fingertip calcinosis treated with surgical debridement.[116] If calcinosis is diffuse, recurrence is more common. Overzealous debridement to remove all calcinosis is apt to compromise digital viability and should be avoided.[117] Successful palliation and significant remission of calcinosis using a carbon dioxide laser has been shown in 2 case reports with a total of 7 patients.[118, 119] Surgical procedures may require extensive planning in patients with limited skin mobility.[120]
Cervical sympathectomy is less beneficial for scleroderma patients than for patients with Raynaud phenomenon secondary to peripheral vascular disease. Newer surgical approaches include digital sympathectomy, with or without revision of surgically correctable vascular disease. In the event of nonhealing digital ulcers, amputation, unfortunately, sometimes is unavoidable.
Surgical therapy may help gastroesophageal reflux in general. Common techniques use complete or partial surgical wraps around the gastroesophageal junction to increase LES pressure and reduce reflux. The degree of tightness of the wrap inversely correlates with the reduction of reflux; however, the scleroderma cohort of patients may not tolerate a tight wrap. They are more likely to experience abdominal discomfort and dysphagia as a result. Therefore, avoid surgery for reflux in scleroderma patients except in the most severe refractory cases.
If sclerodactyly is causing extensive contractures, a carefully planned and precisely performed operative treatment has been shown to have good success with a high level of patient satisfaction.[117]
Bowel resection for uncontrollable GI bleeding from telangiectasia is rarely necessary.
Rheumatologists often primarily follow CREST syndrome patients. Referral to a rheumatologist is advised.
Dermatologists are often involved early and aid in the diagnosis of CREST syndrome.
Gastroenterologists may be asked to perform endoscopy for evaluation of esophageal disease. A gastroenterologist also should be consulted for an evaluation of GI bleeding resulting from telangiectasia and for the treatment of the condition.
Psychiatrists may be consulted to evaluate and treat depression and anxiety.
Occupational or physical therapy may be helpful if a patient has digit and hand strength deficits due to sclerodactyly.
Reinforce the wearing of gloves, a hat, and a coat outdoors and, if necessary, indoors; emphasize the importance of the keeping core body and hand temperature elevated.
Counsel patients to stop smoking.
Emphasize behavior changes (eg, weight loss; elevating head of bed; reduction of caffeine, tobacco, alcohol, and chocolate intake and avoidance prior to recumbency; eating small meals; waiting 3-4 h after eating before lying down).
The goal of pharmacotherapy is to reduce morbidity and to prevent complications.
Clinical Context: Nicardipine is used for its vasodilatation and possible antiplatelet effects. Start with the lowest dose available. Extended-dose preparations and agents with fewer negative inotropic effects are preferred.
Clinical Context: Nifedipine relaxes coronary smooth muscle and produces coronary vasodilation, which, in turn, improves myocardial oxygen delivery; adverse reactions occur predominantly with short-acting formulations and include peripheral edema, headache, dizziness, and tachycardia; calcium channel blockers may worsen gastroesophageal reflux; SR formulations are associated with fewer adverse effects.
Clinical Context: Alprostadil is a strong vasodilator of all vascular beds.
Clinical Context: Fluoxetine selectively inhibits presynaptic serotonin reuptake with minimal or no effect in the reuptake of norepinephrine or dopamine. It may cause more adverse GI effects than other SSRIs now currently available, which is the reason it is not recommended as a first choice.
Fluoxetine may be given as a liquid and a capsule. It may be given as 1 dose or in divided doses. The presence of food does not appreciably alter levels. Because of its long half-life (72 h), it may take up to 4-6 weeks to achieve steady state levels.
The long half-life is an advantage and a drawback. If it works well, an occasional missed dose is not a problem; if problems occur, eliminating all active metabolites takes a long time. The choice depends on adverse effects and drug interactions. Adverse effects of SSRIs seem to be quite idiosyncratic; thus, relatively few reasons exist to prefer one to another at this point if dosing is started at a conservative level and advanced as tolerated.
Clinical Context: Cilostazol affects vascular beds and cardiovascular function. It may improve blood flow by altering the rheology of red blood cells. It produces nonhomogenous dilation of vascular beds, with more dilation in femoral beds than in vertebral, carotid, or superior mesenteric arteries.
Cilostazol and its metabolites are inhibitors of phosphodiesterase III and, as a result, cyclic AMP is increased, which leads to inhibition of platelet aggregation and vasodilation.
Clinical Context: Famotidine competitively inhibits histamine at the H2 receptor of gastric parietal cells, resulting in reduced gastric acid secretion, gastric volume, and reduced hydrogen concentrations.
Clinical Context: Nizatidine competitively inhibits histamine at the H2 receptor of the gastric parietal cells, resulting in reduced gastric acid secretion, gastric volume, and reduced hydrogen concentrations.
Clinical Context: Ranitidine inhibits histamine stimulation of the H2 receptor in gastric parietal cells, which, in turn, reduces gastric acid secretion, gastric volume, and hydrogen concentrations.
This class is for the symptomatic relief of reflux resulting from esophageal dysmotility.
Clinical Context: Omeprazole decreases gastric acid secretion by inhibiting the parietal cell H+/K+ ATP pump.
Clinical Context: Lansoprazole inhibits gastric acid secretion.
This class is for the treatment of reflux symptoms resulting from esophageal dysmotility.
Clinical Context: Losartan is a nonpeptide angiotensin II receptor antagonist that blocks the vasoconstrictor and aldosterone-secreting effects of angiotensin II. It may induce a more complete inhibition of the renin-angiotensin system than ACE inhibitors. It does not affect the response to bradykinin and is less likely to be associated with cough and angioedema. It is used for patients unable to tolerate ACE inhibitors. Losartan is less effective in patients with scleroderma than in those with primary Raynaud phenomenon. It may modify some serum markers of vascular damage and possibly modulate some of the underlying tissue damage in scleroderma.
Clinical Context: Nitroglycerin relaxes smooth muscle all over the body, including those of the LES and esophageal body.