Premium
Prevalence of symptoms in female Fabry disease patients: a case‐control survey
Author(s) -
Bouwman Machtelt G.,
Rombach Saskia M.,
Schenk Erica,
Sweeb Annelies,
Wijburg Frits A.,
Hollak Carla E. M.,
Linthorst Gabor E.
Publication year - 2012
Publication title -
journal of inherited metabolic disease
Language(s) - English
Resource type - Journals
SCImago Journal Rank - 1.462
H-Index - 102
eISSN - 1573-2665
pISSN - 0141-8955
DOI - 10.1007/s10545-011-9447-9
Subject(s) - palpitations , fabry disease , medicine , libido , abdominal pain , pregnancy , population , pediatrics , physical therapy , joint pain , back pain , disease , pathology , alternative medicine , environmental health , biology , genetics
Background Fabry disease (FD) is an X‐linked lysosomal storage disorder, caused by a deficiency of α‐galactosidase A. Several studies demonstrated that heterozygotes have symptoms such as acroparesthesia, abdominal pain and chronic fatigue. However, as these symptoms are aspecific and relatively common in the general population, it is important to compare the prevalence of these symptoms with an appropriate control group. The aim of this study was to explore the prevalence of signs and symptoms in FD females in comparison to a control group. Methods FD females and age‐matched controls were approached to complete a questionnaire. This questionnaire was developed by the Dutch Fabry patient organisation (Fabry Support en Informatie Groep Nederland, FSIGN) with input from Fabry expert‐physicians from the AMC. We compared the prevalence symptoms using Pearson's chi‐square test. Bonferroni correction was used to correct for multiple comparisons. Results A total of 63 heterozygotes and 52 controls completed the questionnaire. Many symptoms were also common in controls. Yet, fatigue, palpitations, pains in hands and feet, joint pain, dizziness, loss of libido and proteinuria during pregnancy were more common in Fabry females (all p < 0.001). Conclusion In addition to acroparesthesia – fatigue, palpitations, dizziness, proteinuria during pregnancy, libido loss and joint pain are more prevalent in FD females as compared to a control group. Although, these symptoms are present in a significant proportion of normal controls they deserve further attention by treating physicians to better understand their significance, treatment and relationship with FD.