Seminarios de la Fundación Espa?ola de Reumatología最新文献

Scleroderma, or systemic sclerosis, is a multisystem autoimmune connective tissue disorder characterized by fibrosis of the skin and internal organs and vasculopathy. The diagnosis of scleroderma is often delayed, when the disease has produced a degree of irreversible fibrosis and vasculopathy. Early diagnosis is highly important in the preescleroderma phase, before fibrosis has become established. There appears to be a therapeutic window which would allow early and aggressive treatment to be started. New classification criteria have been proposed to identify scleroderma in the earliest stages, before skin involvement has developed. Prescleroderma must be suspected whenever there is Raynaud's phenomenon, swollen edematous fingers, specific autoantibodies, and a capillaroscopic pattern of scleroderma. The incorporation of capillaroscopy and autoantibodies allows clinical forms of scleroderma to be identified, even without the presence of skin involvement.

Marfan's disease is provoked by a heterozygotic mutation in the gene codifying fibrillin-1 and is transmitted in an autosomic dominant form. The incidence is 1 out of every 10,000 live births, making it one of the most frequent hereditary connective tissue diseases.

Since Antoine-Bernard-Jean Marfan first described the syndrome in 1986, knowledge of this entity has progressively increased. Affected areas include the eyes, skeletal and cardiovascular systems, the lung, skin and the tissue covering the spinal cord, which have been described in the Ghent criteria, currently the basis for diagnosis.

Diagnosis of Marfan's disease can be difficult because the clinical findings are age-dependent, sometimes leading to difficulties in diagnosing children and young patients. Some of these findings are also frequent in the general population without the disease. Furthermore, the disease has high penetration but there is wide phenotypic variability and substantial overlap with the distinct collagen diseases, hampering differential diagnosis.

In recent years, interest in Marfan's syndrome has grown due to the detection of other diseases with marfanoid phenotype and mutations in the fibrillin-1 gene and the development of aggressive medical and surgical treatment that has radically changed prognosis. Because Marfan's disease is multisystemic, multidisciplinary management is required.

Steroid-induced hyperglycemia is a frequent problem in clinical practice that can generate or prolong hospital admissions and lead to repeat emergency visits without an adequate solution. However, steroid-induced hyperglycemia remains an underestimated problem in terms of both diagnosis and treatment. Factors contributing to this situation include the variety of corticosteroid preparations and regimens available and especially the lack of involvement by practitioners prescribing steroids and the absence of clinical studies and specific recommendations for diagnosis and treatment.

This article reviews the pathophysiology of glucocorticoid-induced hyperglycemia and proposes management strategies based on clinical status and the pattern of hyperglycemia expected according to the type and regimen of glucocorticoid used.

A biomarker is a biological parameter that can be measured in blood or other body fluids or tissues and used as a sign of a normal or abnormal process, or of a condition or disease. In medicine, a biomarker can be used to diagnose a disease, to establish its prognosis or as a surrogate marker of outcome in research. In recent years, there has been strong interest in discovering new biomarkers, as well as in the development of new uses for well-known biomarkers in distinct diseases. In this article, the utility of several biomarkers not routinely used in rheumatology (procalcitonin, natriuretic peptides and cardiac troponins) in the diagnosis and follow-up of patients with systemic autoimmune diseases is reviewed.

Camurati-Engelmann disease (CED), or progressive diaphyseal dysplasia, is characterized by hyperostosis of the diaphyses of the long bones (tibiae, femora, humeri…) that appears gradually and can affect the metaphyses; the epiphyses, however, are characteristically spared. In addition, other bones, such as the skull, may be affected.

CED is a rare autosomal dominant genetic disorder. Penetrance is reduced and expressivity is variable. Over 200 patients of both genders and all races have been described.

CED is caused by a mutation in the gene encoding for transforming growth factor ß-1.

Typically, CED symptoms begin in childhood and usually consist of a waddling gait, bone pain in the lower limbs, muscular weakness and reduced subcutaneous fat. If the skull is affected, neurological symptoms can appear, the most common being hearing loss.

Diagnosis is based on clinical findings and typical radiographic changes (gradual and irregular thickening of the diaphysis of the long bones). Scintigraphy is also useful in diagnosis. Definitive diagnosis is provided by mutation analysis.

The main treatment for this disease consists of glucocorticoids. In the future, gene therapy may provide a cure for CED.

In recent decades, there has been a breakthrough in the treatment of systemic vasculitis, although substantial morbidity and mortality are still associated with these diseases, often related to immunosuppressive therapy. The success of biologic therapy in rheumatoid arthritis and other autoimmune diseases has led to research into these agents in systemic vasculitis. Anti-tumor necrosis factor (TNF) agents have proven useful in the treatment of Takayasu arteritis refractory to conventional treatment but there is no evidence of their effectiveness in other types of vasculitis. Anti-CD20 therapy (rituximab) has proven effective in ANCA vasculitis refractory to cyclophosphamide. Two recently published clinical trials have shown that rituximab is not inferior to cyclophosphamide as induction therapy of remission in ANCA Vasculitis, so in the future, could be considered a first line treatment in these patients.