scholarly journals CREST Syndrome - a Limited Form of Systemic Scleroderma: a Case Report and Literature Review

2015 ◽  
Vol 7 (3) ◽  
pp. 97-114 ◽  
Author(s):  
Mirjana Paravina ◽  
Milenko Stanojević ◽  
Ljiljana Spalević ◽  
Dragana Ljubisavljević ◽  
Zorana Zlatanović ◽  
...  
Keyword(s):  
Literature Review ◽  
Raynaud’S Phenomenon ◽  
Clinical Manifestations ◽  
Diagnostic Procedures ◽  
Raynaud's Phenomenon ◽  
Clinical Findings ◽  
Systemic Scleroderma ◽  
Crest Syndrome ◽  
Multisystem Disease ◽  
Therapeutic Modalities

Abstract Systemic scleroderma (SSc) is a multisystem disease with microvascular abnormalities, autoimmune disorders, excessive collagen production and deposition, and fibrosis of the skin and internal organs. According to the simplest, though incomplete classification, there are two forms of SSc: diffuse and limited (formerly acrosclerosis). CREST syndrome is a subtype of limited SSc, characterized by: calcinosis, Raynaud’s phenomenon, esophageal dysfunction, sclerodactyly, and telangiectasia. We present a patient with all the features of the CREST syndrome, which appeared at the age of 43 and lasted for 23 years. The patient presented with a gradual development of symptoms during the first ten years, from Raynaud’s phenomenon, skin sclerosis, calcinosis, telangiectasia, and esophageal dysmotility. The diagnosis was based on clinical findings and relevant diagnostic procedures. The article presents a literature review on the epidemiology, etiology, pathophysiology, clinical manifestations, various attempts at classification, diagnostic criteria, and therapeutic modalities. When classifying systemic scleroderma into two main types — diffuse and limited, with CREST syndrome as a variant of the latter, it should be pointed out that both types represent clinical forms of systemic sclerosis, share similar visceral involvement, laboratory abnormalities and course which is variable, as was the case in our patient.

Clinical Significance of Cryofibrinogenemia: Possible Pathophysiological Link with Raynaud’s Phenomenon

2011 ◽  
Vol 39 (1) ◽  
pp. 119-124 ◽  
Author(s):  
MUHAMMAD S. SOYFOO ◽  
AHMED GOUBELLA ◽  
ELIE COGAN ◽  
JEAN-CLAUDE WAUTRECHT ◽  
ANNICK OCMANT ◽  
...  
Keyword(s):  
Raynaud’S Phenomenon ◽  
Clinical Signs ◽  
Clinical Manifestations ◽  
Raynaud's Phenomenon ◽  
Clinical Findings ◽  
University Hospital ◽  
Significant Difference ◽  
Primary Raynaud’S Phenomenon ◽  
The Mean ◽  
Mean Concentration

Objective.To describe the clinical findings and prevalence of patients with cryofibrinogenemia (CF) and to determine whether CF is associated with primary Raynaud’s phenomenon.Methods.Between June 2006 and December 2009, 227 patients were tested for CF in a single university hospital. Forty-five patients with primary Raynaud’s phenomenon were tested for CF.Results.A total of 117 patients with CF without cryoglobulinemia were included. The main clinical manifestations included skin manifestations (50%) and arthralgia (35%). There were 67 patients with primary CF and 50 patients with secondary CF. There was no significant difference in the mean concentration of the cryoprecipitate in primary CF as compared to the secondary form (172 ± 18.6 vs 192 ± 20.9 mg/dl, respectively; p = 0.41). Highest concentrations of cryoprecipitate were observed in those containing fibrinogen only as compared to cryoprecipitates containing fibrinogen and fibronectin (301 ± 43.5 vs 125 ± 10.6 mg/dl; p < 0.001). Patients having skin necrosis (n = 3) had significantly higher values of cryofibrinogen compared to those without necrosis (638 ± 105 vs 160 ± 10.2 mg/dl; p = 0.0046). Among the 45 patients with primary Raynaud’s phenomenon, 36 had associated CF. There was no significant difference in the mean concentration of the cryoprecipitate in these patients compared to those with primary CF.Conclusion.There seems to be a significant correlation between cryofibrinogen concentration and the severity of the clinical signs, particularly when cryoprecipitate is composed of fibrinogen alone. CF might have a possible pathophysiological role in primary Raynaud’s phenomenon.

Overlap/undifferentiated syndromes

2013 ◽  
pp. 1069-1078 ◽  
Author(s):  
Ariane Herrick
Keyword(s):  
Connective Tissue ◽  
Connective Tissue Disease ◽  
Clinical Features ◽  
Lupus Erythematosus ◽  
Raynaud’S Phenomenon ◽  
Clinical Manifestations ◽  
Raynaud's Phenomenon ◽  
Overlap Syndromes ◽  
Clear Cut ◽  
Positive Treatment

Undifferentiated connective tissue disease (UCTD) and overlap syndromes both form part of the broad spectrum of connective tissue disease. They are difficult to define, as the boundaries between them and specific diseases such as systemic lupus erythematosus (SLE), systemic sclerosis (SSc), and myositis are often not clear-cut. This chapter gives a broad overview of diagnosis, clinical features, outcomes, and management. Patients with UCTD have clinical and/or serological features of connective tissue disease but do not fulfil the criteria for any one defined disease. Raynaud’s phenomenon and puffy fingers are often the presenting features but there are many possible others, including arthralgia, sicca symptoms, and breathlessness due to pulmonary fibrosis, usually in the context of a positive anti-nuclear antibody (ANA). A proportion of patients evolve into a defined connective tissue disease: in those who do, this is generally within 5 years of onset. Treatment is dependent upon the clinical features: for examplem vasodilators for Raynaud’s phenomenon, or hydroxychloroquine for arthralgia/arthritis. Patients with overlap syndromes have features of more than one defined connective tissue disease. Overlap syndromes are therefore highly heterogeneous as many combinations of clinical and serological features can occur. Mixed connective tissue disease (MCTD) is the overlap syndrome that has been most described and includes overlapping features of SLE, SSc, and myositis in patients who are anti-U1 ribonucleoprotein (RNP) antibody positive. Treatment is of the specific clinical manifestations. Patients with overlap syndromes should be kept under regular review to allow early identification of internal organ involvement.

scholarly journals Combination therapy with bosentan and sildenafil for refractory digital ulcers and Raynaud’s phenomenon in a 30-year-old woman with systemic sclerosis: Case report and literature review

2019 ◽  
Vol 5 (2) ◽  
pp. 159-164 ◽  
Author(s):  
Jan-Gerd Rademacher ◽  
Chris Wincup ◽  
Björn Tampe ◽  
Peter Korsten
Keyword(s):  
Case Report ◽  
Systemic Sclerosis ◽  
Literature Review ◽  
Combination Therapy ◽  
Raynaud’S Phenomenon ◽  
Raynaud's Phenomenon ◽  
Digital Ulcers ◽  
Channel Blockers ◽  
Tissue Necrosis ◽  
Diffuse Systemic Sclerosis

Background: Systemic sclerosis is a rare autoimmune disease characterized by skin and organ fibrosis, and vasculopathy. Raynaud’s phenomenon is almost universally present in systemic sclerosis and can be the most debilitating symptom. Raynaud’s phenomenon may lead to the development of digital ulcers, potentially complicated by infection, tissue necrosis, and auto-amputation. Recommended treatments have variable efficacy. Methods: We report the case of a 30-year-old woman with diffuse systemic sclerosis suffering from severe Raynaud’s phenomenon and digital ulcers with digital tissue necrosis who was treated with combination therapy of an endothelin receptor antagonist and phosphodiesterase 5 inhibitor. In addition, we reviewed the literature on the topic. Results: Previous therapy with calcium-channel blockers, intravenous iloprost, and bosentan had all failed to control symptoms. We added sildenafil in combination with bosentan and observed a rapid and sustained treatment effect. Raynaud’s phenomenon severity, number of attacks, and attack duration decreased within 2 weeks of initiating treatment. Furthermore, this resulted in the healing of established digital ulcers. Conclusion: Our case report suggests that combination therapy may be a feasible treatment for the most severely affected and refractory patients. In our literature review, we found one retrospective study and three additional cases with similarly encouraging results.

Raynaud's phenomenon

2019 ◽  
Vol 80 (11) ◽  
pp. 658-664
Author(s):  
Vikrant Devgire ◽  
Michael Hughes
Keyword(s):  
Systemic Sclerosis ◽  
Surgical Intervention ◽  
Raynaud’S Phenomenon ◽  
Clinical Manifestations ◽  
Raynaud's Phenomenon ◽  
First Line ◽  
Wide Range ◽  
Significant Burden ◽  
Associated Conditions ◽  
First Line Treatment

Raynaud's phenomenon is a common vasospastic condition which carries a significant burden of pain and hand-related disability ( Hughes and Herrick, 2016 ). The prevalence of Raynaud's phenomenon in the general population has been reported to be approximately 5% ( Garner et al, 2015 ). Raynaud's phenomenon can occur either as a primary (‘idiopathic’) phenomenon or secondary to a wide range of underlying medical conditions and drug causes. Therefore, hospital-based specialists are frequently involved in the care of patients with Raynaud's phenomenon and need to be aware of associated conditions and prescribed medications for Raynaud's phenomenon. In particular, Raynaud's phenomenon is often the earliest manifestation of an underlying autoimmune connective tissue disease (e.g. systemic sclerosis). A comprehensive clinical assessment is required including performing targeted investigations (e.g. nailfold capillaroscopy and systemic sclerosis-associated autoantibodies). Patient education and lifestyle adaptations is first-line treatment for Raynaud's phenomenon. There is a wide range of pharmacological options including oral and intravenous drug therapies available to treat Raynaud's phenomenon. Surgical intervention is sometimes required for refractory Raynaud's phenomenon and tissue ischaemia. This review describes the clinical manifestations of Raynaud's phenomenon including potential secondary causes and presents an approach to assessment and management.

Raynaud’s phenomenon in the early diagnosis of systemic scleroderma

Therapy ◽  
2019 ◽  
Vol 8_2019 ◽  
pp. 151-156
Author(s):  
Akhmetshina L.A. Akhmetshina ◽  
Tokranova L.V. Tokranova ◽  
Fatykhova E.Z. Fatykhova ◽  
Yakupova S.P. Yakupova ◽  
◽  
...  
Keyword(s):  
Early Diagnosis ◽  
Raynaud’S Phenomenon ◽  
Raynaud's Phenomenon ◽  
Systemic Scleroderma

Overlap/undifferentiated syndromes

2013 ◽  
pp. 1069-1078
Author(s):  
Ariane Herrick ◽  
Michael Hughes
Keyword(s):  
Connective Tissue ◽  
Connective Tissue Disease ◽  
Clinical Features ◽  
Lupus Erythematosus ◽  
Raynaud’S Phenomenon ◽  
Clinical Manifestations ◽  
Raynaud's Phenomenon ◽  
Overlap Syndromes ◽  
Clear Cut ◽  
Positive Treatment

Undifferentiated connective tissue disease (UCTD) and overlap syndromes both form part of the broad spectrum of connective tissue disease. They are difficult to define, as the boundaries between them and specific diseases such as systemic lupus erythematosus (SLE), systemic sclerosis (SSc), and myositis are often not clear-cut. This chapter gives a broad overview of diagnosis, clinical features, outcomes, and management. Patients with UCTD have clinical and/or serological features of connective tissue disease but do not fulfil the criteria for any one defined disease. Raynaud’s phenomenon and puffy fingers are often the presenting features but there are many possible others, including arthralgia, sicca symptoms, and breathlessness due to pulmonary fibrosis, usually in the context of a positive anti-nuclear antibody (ANA). A proportion of patients evolve into a defined connective tissue disease: in those who do, this is generally within 5 years of onset. Treatment is dependent upon the clinical features: for example vasodilators for Raynaud’s phenomenon, or hydroxychloroquine for arthralgia/arthritis. Patients with overlap syndromes have features of more than one defined connective tissue disease. Overlap syndromes are therefore highly heterogeneous as many combinations of clinical and serological features can occur. Mixed connective tissue disease (MCTD) is the overlap syndrome that has been most described and includes overlapping features of SLE, SSc, and myositis in patients who are anti-U1 ribonucleoprotein (RNP) antibody positive. Treatment is of the specific clinical manifestations. Patients with overlap syndromes should be kept under regular review to allow early identification of internal organ involvement.

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