Heterozygous Fabry women are not just carriers, but have a significant burden of disease and impaired quality of life.

摘要: Purpose: To determine if there is significant symptomatology in women with heterozygous α-galactosidase mutations. Methods: Data from medical records of the 44 females followed at Cedars-Sinai Medical Center were compiled and analyzed for symptoms Fabry disease. Quality life data also analyzed. Results: Seventy-six percent referred due to an affected male relative; 76% reported acroparesthesias as their first symptom. A mean 15.7 years elapsed onset diagnosis. life, measured by SF-36 survey, was globally reduced. Pain mood enjoyment life. Central/peripheral nervous, cardiopulmonary, renal system manifestations disease present far above that predicted random X-inactivation normal allele. Fatigue, 59%, associated reduced maximum oxygen consumption (P = 0.049); exercise intolerance, 83%, maximal heart rate during testing 0.0089). Women diagnosed via family history experienced more angina 0.035), decreased vibration sense 0.026), had a worse percentage FEF25–75 0.037) compared because symptoms. Conclusions: This study indicates asymptomatic female carrier exception, not rule: heterozygotes suffer multisystemic quality must be monitored treated accordingly.