Title |
Females with Fabry disease frequently have major organ involvement: Lessons from the Fabry Registry
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Published in |
Molecular Genetics & Metabolism, November 2007
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DOI | 10.1016/j.ymgme.2007.09.013 |
Pubmed ID | |
Authors |
William R. Wilcox, João Paulo Oliveira, Robert J. Hopkin, Alberto Ortiz, Maryam Banikazemi, Ulla Feldt-Rasmussen, Katherine Sims, Stephen Waldek, Gregory M. Pastores, Philip Lee, Christine M. Eng, Laszlo Marodi, Kevin E. Stanford, Frank Breunig, Christoph Wanner, David G. Warnock, Roberta M. Lemay, Dominique P. Germain |
Abstract |
Fabry disease (FD) is an X-linked lysosomal storage disease caused by alpha-galactosidase A deficiency. The Fabry Registry is a global clinical effort to collect longitudinal data on FD. In the past, most "carrier" females were usually thought to be clinically unaffected. A systematic effort has been made to enroll all FD females, regardless of symptomology. Of the 1077 enrolled females in the Registry, 69.4% had symptoms and signs of FD. The median age at symptom onset among females was 13 years, and even though 84.1% had a positive family history, the diagnosis was not made until a median age of 31 years. Twenty percent experienced major cerebrovascular, cardiac, or renal events, at a median age of 46 years. Among adult females with estimated glomerular filtration rate (eGFR) data (N=638), 62.5% had an eGFR <90 ml/min/1.73 m2 and 19.0% had eGFR <60 ml/min/1.73 m2. Proteinuria 300 mg/day was present in 39.0% of females, and 22.2% had >1 gram/day. Quality of life (QoL), as measured by the SF-36((R)) survey, was impaired at a later age than in males, but both genders experience significantly impaired QoL from the third decade of life onward. Thus, females with FD have a significant risk for major organ involvement and decreased QoL. Females should be regularly monitored for signs and symptoms of FD, and considered for enzyme replacement therapy. |
X Demographics
Geographical breakdown
Country | Count | As % |
---|---|---|
United States | 3 | 43% |
Unknown | 4 | 57% |
Demographic breakdown
Type | Count | As % |
---|---|---|
Practitioners (doctors, other healthcare professionals) | 3 | 43% |
Members of the public | 3 | 43% |
Science communicators (journalists, bloggers, editors) | 1 | 14% |
Mendeley readers
Geographical breakdown
Country | Count | As % |
---|---|---|
Spain | 2 | <1% |
Ukraine | 1 | <1% |
France | 1 | <1% |
Denmark | 1 | <1% |
United States | 1 | <1% |
Unknown | 231 | 97% |
Demographic breakdown
Readers by professional status | Count | As % |
---|---|---|
Researcher | 36 | 15% |
Student > Master | 26 | 11% |
Other | 23 | 10% |
Student > Bachelor | 21 | 9% |
Student > Ph. D. Student | 19 | 8% |
Other | 37 | 16% |
Unknown | 75 | 32% |
Readers by discipline | Count | As % |
---|---|---|
Medicine and Dentistry | 88 | 37% |
Biochemistry, Genetics and Molecular Biology | 21 | 9% |
Agricultural and Biological Sciences | 14 | 6% |
Neuroscience | 6 | 3% |
Nursing and Health Professions | 5 | 2% |
Other | 27 | 11% |
Unknown | 76 | 32% |