Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0002986 (Fabry)
 5,646 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Fabry disease (FD) is an X-linked disorder of glycosphingolipid catabolism that results from a deficiency of the lysosomal enzyme alpha-galactosidase A. This defect leads to the accumulation of its substrates, mainly globotriaosylceramide, in lysosomes of cells of different tissues. Different studies have shown the involvement of immunopathologies in different sphingolipidoses. The coexistence of FD and immune disorders such as systemic lupus erythematosus, rheumatoid arthritis and IgA nephropathy, has been described in the literature. The aim of this study was to evaluate the prevalence of a group of autoantibodies in a series of Argentine FD patients. Autoantibodies against extractable nuclear antigens (ENAs), double-stranded DNA, anticardiolipin and phosphatidylserine were assayed by ELISA. Lupus anticoagulants were also tested. Fifty-seven per cent of the samples showed reactivity with at least one autoantigen. Such reactivities were more frequent among males than among females. Antiphospholipid autoantibodies were detected in 45% of our patients. The high rate of thrombosis associated with FD could be related, at least in part, to the presence of antiphospholipid autoantibodies in Fabry patients. We found the presence of ENAs, which are a characteristic finding of rheumatological diseases, previous a frequent misdiagnosis of FD, in around 39% of the cases. The detection of a high level of autoantibodies must be correlated clinically to determine the existence of an underlying autoimmune disease. With the recent development of therapy, the life expectancy in FD will increase and autoimmune diseases might play an important role in the morbidity of FD.
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PMID:High incidence of autoantibodies in Fabry disease patients. 1745 9

We describe a female patient with systemic lupus erythematosus (SLE) also diagnosed with Fabry's disease and anti-phospholipid antibody syndrome (APS). SLE and Fabry's disease are both systemic diseases with variable clinical presentations. Recent studies have shown a relatively high incidence of late onset Fabry's disease in female heterozygous individuals, suggesting that this condition could be under-diagnosed. We discuss a possible association between SLE and Fabry's disease and consider the role of lipid abnormalities in the pathogenesis of SLE.
Lupus 2013 Sep
PMID:Heart failure in a woman with SLE, anti-phospholipid syndrome and Fabry's disease. 2386 39

Certain entities may simultaneously involve the lungs and the myocardium. Knowing their cardiac and thoracic manifestations enhances the understanding of those conditions and increases awareness and suspicion for possible concurrent cardiothoracic involvement. Entities that can present with pulmonary and myocardial involvement include infiltrative diseases like sarcoidosis and amyloidosis, eosinophil-associated conditions including eosinophilic granulomatosis with polyangiitis (EGPA) and hypereosinophilic syndrome (HES), connective tissue diseases such as systemic sclerosis (SSc) and lupus erythematosus and genetic disorders like Fabry disease (FD). Lung involvement in sarcoidosis is almost universal. While cardiac involvement is less common, concurrent cardiothoracic involvement can often be seen. Pulmonary amyloidosis is more often a localized process and generally occurs separately from cardiac involvement, except for diffuse alveolar-septal amyloidosis. EGPA and HES can present with consolidative or ground glass opacities, cardiac inflammation and endomyocardial fibrosis. Manifestations of SSc include interstitial lung disease, pulmonary hypertension and cardiomyopathy. Lupus can present with serositis, pneumonitis and cardiac inflammation. FD causes left ventricular thickening and fibrosis, and small airways disease. This article aims to review the clinicopathological features of chest and cardiac involvement of these entities and describe their main findings on chest CT and cardiac MR.
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PMID:Pathological entities that may affect the lungs and the myocardium. Evaluation with chest CT and cardiac MR. 3315 69