Fabry disease is a rare X-linked lysosomal storage disease caused by alpha-galactosidase A deficiency. Earlier it was perceived that female involvement relating to Fabry disease was limited to that of being a symptom free carrier of the disease. However, recent findings indicate females can also develop clinical manifestations of Fabry. Debate regarding the range and degree of suffering with the disease continues.
This study attempts to map the distribution of signs, symptoms, and quality of life for twelve female Fabry disease patients in the Helse Sør-Øst region in Norway. The approach used here involved semiformal patient interviews, assessment of patient records, and SF-36® survey analysis.
Descreptancies exist relating to patient symptoms, organ manifestations, and life quality measurements. Many of these females have suffered from symptoms for years before being diagnosed. Musculare pain (67.5%), fatigue (75%), and abdominal pain (75%) are frequent symptoms that the females in this study experienced. The most prominent organ manifestations were cornea verticillata (50%), cardiac left ventricular hypertrophy (42%) and reduced bone mineral density (60%). SF-36 analysis reveals a generally diminished quality of life compared to that of a healthy population, particularly related to bodily pain and vitality. The gap between diagnosis and treatment has taken years in some cases. Females recieving enzyme replacement treatment observe both negative and positive effects.
All the females in this study show signs and/or symptoms of Fabry disease. More knowledge and attention to Fabry disease among females is required to diagnose, treat, and follow up female sufferers better. In particular, more knowledge linking females and ERT with focus on general effects, side effects, and longterm effects is required.