Females with Fabry disease frequently have major organ involvement: lessons from the Fabry Registry.

Mol Genet Metab 2008 Feb 26;93(2):112-28. Epub 2007 Nov 26.

Medical Genetics Institute, Cedars-Sinai Medical Center, 8700 Beverly Blvd. SSB, Los Angeles, CA 90048, USA.

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.

Download full-text PDF

Source
http://dx.doi.org/10.1016/j.ymgme.2007.09.013DOI Listing
February 2008
86 Reads
78 Citations
2.625 Impact Factor

Publication Analysis

Top Keywords

median age
12
fabry registry
8
age years
8
fabry disease
8
females
6
age symptom
4
signs median
4
symptom onset
4
females years
4
positive family
4
841% positive
4
years 841%
4
symptoms signs
4
onset females
4
registry 694%
4
effort enroll
4
systematic effort
4
unaffected systematic
4
clinically unaffected
4
enroll females
4

Similar Publications