Clinical Manifestation in Female Fabry Disease Patients

Remarkable variability in renal disease in a large Slovenian family with Fabry disease

“…7,8 Female carriers In the 10 female carriers, symptoms were much milder, a finding confirmed by others. 9 None of them suffered from renal failure, severe cardiac disease or had experienced a stroke. Acroparesthesias were present in four patients, two had angiokeratoma and six complained of hypohydrosis.…”

Nature and Prevalence of Pain in Fabry Disease and Its Response to Enzyme Replacement Therapy—A Retrospective Analysis From the Fabry Outcome Survey

“…However, the age at onset and the severity of symptoms is usually less profound. 2,3 The disease typically presents in childhood with acroparesthesia of prickling and burning character. Both acute pain attacks and chronic background pain have been reported as major causes of morbidity during the first 2 decades of life.…”

Clinical presentation in female patients with Fabry disease

“…However, the article by MacDermot et al is one of several publications reporting that many heterozygous female patients display classical symptoms of Fabry disease. [1][2][3][4][5] Overall, symptomatology is usually more severe in hemizygous male patients with Fabry disease, but disease expression can vary widely in both sexes. Some female carriers remain asymptomatic and have normal concentrations of α-Gal A, whereas some experience more severe manifestations of disease.…”