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's disease is an X-linked recessive inborn error of metabolism, caused by a deficiency of alpha galactosidase A. This report describes a heterozygote patient with multiple system problems diagnosed eventually as Fabry's disease by the ocular findings. The clinical diagnosis was confirmed by enzymatic assay. Our report emphasizes: The variability of the non-ocular manifestations in the heterozygote of Fabry's disease. The diagnosis of Fabry's disease in our patient was made by the ophthalmologist. The ultra-structural changes in the cornea and conjunctiva of the heterozygote confirm those reported in the literature; in addition we describe changes in the goblet cells. The clinical and ultra-structural similarities of the deposits in Fabry's disease, Chloroquin keratopathy and Amiodarone keratopathy are striking and will be discussed.
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PMID:Corneal changes in Fabry's disease: a clinico-pathologic case report of a heterozygote. 393 20

Therapeutic administration of amiodarone, an antiarrhythmic drug, to eight patients resulted in the formation of vortex-like figures within the anterior cornea. Clinical examination disclosed no visual loss or other ocular abnormality attributable to the drug. In one patient, light and transmission electron microscopy of corneal epithelium, bulbar conjunctiva, and cataractous lens revealed complex lipid deposits within lysosome-like intracytoplasmic inclusions in corneal, conjunctival, and lens epithelium, conjunctival fibrocytes, and conjunctival vascular endothelium. Amiodarone keratopathy is compared clinically and morphologically with the corneal alterations seen in Fabry's disease and in chloroquine use as an example of a drug-induced lipid storage disorder.
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PMID:Amiodarone keratopathy: drug-induced lipid storage disease. 625 44

Amiodarone, 2-N-butyl-3-(4'diethylaminoethoxy-3',5-diiodobenzoyl)benzofuran, also known as Cordarone, is presently under clinical investigation in the United States. It is an alpha and beta antagonist and is extremely effective in treating otherwise uncontrollable ventricular arrhythmias. To date, 27 patients participating in our ongoing study since 1977 have had corneal deposits. The deposits are in the corneal epithelium basal cell layer, and occur in stages (mild, moderate, and severe), which seem to correlate with dosage and duration of treatment. Vision is rarely diminished by these deposits, and if it is, discontinuation of the drug therapy will cause regression of the deposits with eventual return to normal beginning within two to four weeks but possibly taking as long as 1 1/2 years. The deposits look similar to those seen in chloroquine toxicity and Fabry's glycolipidosis. Other adverse effects reported in the European literature include thyroidopathy, cutaneous pigmentation, and neuromyopathy.
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PMID:Amiodarone-induced corneal deposits. 649 23

Amiodarone (Cordarone) is an iodinated cardiac antiarrhythmic drug that causes a slate-gray discoloration of the sun-exposed skin and a yellow-brown stippling of the cornea. Histopathologically, biopsy specimens of aminodarone pigmentation sites disclose yellow-brown refractile granules in the reticular dermis. These granules were characterized by transmission electron microscopy as being concentrically arranged intralysosomal inclusions ("myelinlike" bodies) in dermal endothelial cells and perivascular smooth-muscle cells. Electron probe x-ray analysis of these same inclusions disclosed definite peaks for iodine, evidence for the presence of amiodarone or a metabolite of the drug at these sites. Amiodarone, then, concentrates in lysosomes and causes an accumulation of lipids similar to what has been seen with other cationic amphiphilic compounds, such as the glycosphingolipid stored in Fabry's disease. Amiodarone must be recognized as a cause of a drug-induced lipid storage disease with cutaneous and corneal manifestations.
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PMID:Cutaneous pigmentation secondary to amiodarone therapy. 663 12

A 54-year-old man with the lysosomal storage disorder Anderson-Fabry disease (AFD) and cardiac involvement was placed on amiodarone for treatment of symptomatic paroxysmal atrial fibrillation. Shortly thereafter, he developed symptoms of acute decompensated heart failure, requiring hospital admission. Endomyocardial biopsy demonstrated findings consistent with AFD and possible amiodarone toxicity. Amiodarone was discontinued, and the patient's heart failure resolved with return to baseline status. Amiodarone is known to alter lysosomal pH and enzyme activity, and this case illustrates how it should be used with considerable caution in patients with AFD.
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PMID:Acute Decompensated Heart Failure After Initiation of Amiodarone in a Patient With Anderson-Fabry Disease. 3059 73