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Query: UMLS:C0002986 (Fabry)
 5,646 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

A man aged 54 years presented multiple symptoms (acroparesthesia, familial deafness, cardiomyopathy, diarrhea, adenopathy with infiltration of frothy macrophages, pancytopenia with a dense marrow, chronic meningitis, renal failure) associated with intermittent fever, with feverish attacks and a temperature of 40 degrees C, and with a severe biologic febrile syndrome. Fabry's disease was diagnosed only after 3 years of fruitless explorations. The reasons for this delay are analysed and it is suggested than Fabry's disease be added to the list of conditions responsible for fever or for a persistent inflammatory syndrome.
Rev Rhum Mal Osteoartic 1986 Oct
PMID:[Fabry's disease. Rare etiology of a long-term inflammatory syndrome. Apropos of a case]. 309 72

The occurrence of an acrosyndrome (Raynaud's phenomenon, erythermalgia, acrodynia...) in childhood may be the first manifestation of a general disease. Though it can be an early onset Raynaud's disease, it could also be the first sign of a connective tissue disease (juvenile polyarthritis, mixed connectivitis...) or of a overload disorder. We report a case of childhood-onset acromelalgia leading to the discovery of Fabry's disease. This chromosome X-linked hereditary disorder, resulting in the ubiquitous accumulation of neutral sphingolipids, is usually rapidly suspected by the finding of "boxer-short" angiokeratoma. Diagnosis is confirmed by the ophthalmic examination (cornea verticillata), by the pathological examination of a skin sample, and by the measure of alpha-galactosidase A activity. Treatment is usually only symptomatic, but the discovery of the mutations responsible for the disease could open the way to specific therapy.
J Mal Vasc 1995
PMID:[Childhood acromelalgia a propos of a case revealing Fabry's disease]. 765 Apr 42

The differential diagnosis of erythermalgia is sometimes complicated by the absence of consensus on proposed diagnostic criteria. Unwarranted diagnosis can result from any clinical situation leading to burning sensations in the limbs. This can occurs in patients with peripheral neuropathies who often experience dysesthesia when going to bed when the legs are under the covers; in such cases, redness and local warmth are missing. Venous insufficiency can also produce sensations of warm feet, often at retiring, together with edema and an increase in local heat. Algodystrophy, during the inflammatory phase can also mimic erythermalgia with intense pain and local modifications. Nevertheless, the unilateral aspect and persistence of the symptoms together with the post-traumatic situation usually directs the diagnosis. Acrodynia is a rare disease caused by excessive mercury intake and should be discussed in children. Vasomotor impairment in the limbs is the main sign. The red color of the hands and feet is accompanied by intense paroxysmal burn-type pain. The diagnosis is confirmed by high mercury levels in urine. Fabry's disease is a hereditary sphingolipidosis transmitted on chromosome X and occurs predominantly in men, often starting early in childhood with burning sensation in the limbs. The diagnosis should be entertained in children with pseudo-erythermalgia and is confirmed by chromatographic search for abnormal sphingolipids in the urine.
J Mal Vasc 1996
PMID:[False erythermalgia]. 875 87

Fabry's disease is a hereditary sex-linked sphinglopidosis characterised by abnormal cellular lipid overload in most organs due to deficiencies in enzymes implicated in the catabolism of certain neutral glycolipids. There are two main clinical forms; cardiovascular manifestations usually congestive cardiac failure, and renal manifestations progressing to renal failure and death due to uraemic coma. The authors report a case presenting with juvenile, symptomatic complete infrahisian atrioventricular block. They describe the different cardiovascular complications of Fabry's disease from a review of the medical literature.
Arch Mal Coeur Vaiss 1997 Mar
PMID:[Complete atrioventricular block disclosing Fabry's disease]. 923 78