Anderson–Fabry disease: Clinical manifestations of disease in female heterozygotes

• Published in: Journal of inherited metabolic disease Vol. 24; no. 7; pp. 715 - 724
• Main Authors: Whybra, C., Kampmann, Chr, Willers, I., Davies, J., Winchester, B., Kriegsmann, J., Brühl, K., Gal, A., Bunge, S., Beck, M.
• Format: Journal Article
• Language: English
• Published: Dordrecht Kluwer Academic Publishers 01.11.2001; Springer; Blackwell Publishing Ltd
• Subjects: Adolescent; Adult; Biological and medical sciences; Blood Vessels - metabolism; Carbohydrates (enzymatic deficiencies). Glycogenosis; Cerebrovascular Disorders - etiology; Child; Child, Preschool; Errors of metabolism; Fabry Disease - diagnosis; Fabry Disease - genetics; Fabry Disease - metabolism; Female; Gastrointestinal Diseases - etiology; Glycosphingolipids - metabolism; Heart Diseases - etiology; Heterozygote; Humans; Kidney Diseases - etiology; Lipids (lysosomal enzyme disorders, storage diseases); Male; Medical sciences; Metabolic diseases; Paresthesia - etiology; X Chromosome; Human; Nervous system diseases; Fabry disease; Cardiovascular disease; Metabolic diseases; Lipids; Enzymopathy; Genetic disease; Heterozygosity; Vascular disease; Symptomatology; Female; Clinical investigation; Lipoidosis
• ISSN: 0141-8955; 1573-2665
• DOI: 10.1023/A:1012993305223

Anderson–Fabry disease is a rare, X‐chromosomal lipid storage disorder caused by a deficiency of lysosomal α‐galactosidase A. Clinical manifestations of Anderson–Fabry disease include excruciating pain in the extremities (acroparaesthesia), skin vessel ectasia (angiokeratoma), corneal and lenticular opacity, cardiovascular disease, stroke and renal failure, only renal failure being a frequent cause of death. Heterozygote female carriers have often been reported as being asymptomatic or having an attenuated form of the disease. To evaluate the spectrum of clinical signs in heterozygotes, a comprehensive clinical examination was performed on 20 carriers of Anderson–Fabry disease. This revealed that, in addition to the skin manifestation, various other clinical manifestations of the disease are present, including acroparaesthesia, kidney dysfunction, cerebrovascular disease, and gastrointestinal and heart problems. It therefore appears that Anderson–Fabry disease affects both hemizygotes and heterozyotes and therefore should be considered to be an X‐linked dominant disease.