Comparison of Health-Related Quality of Life Between Heterozygous Women with Fabry Disease, the General Population, and Patients with Chronic Disease

 
 
 
 

Comparison of Health-Related Quality of Life Between Heterozygous Women with Fabry Disease, the General Population, and Patients with Chronic Disease

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Title: Comparison of Health-Related Quality of Life Between Heterozygous Women with Fabry Disease, the General Population, and Patients with Chronic Disease
Author: Jansen, Natalie R.
Description: Introduction: Fabry disease is an X-linked lysosomal storage disorder that affects both men and women. Manifestations of the disease have been well-documented in hemizygous males. This study assessed the health-related quality of life (HRQoL) of obligate heterozygotes compared to a healthy control population, and to populations with multiple sclerosis (MS) and rheumatoid arthritis (RA). Methods: Study subjects were identified through lysosomal disease centers and the Fabry Support and Information Group (FSIG). Mean scores in each HRQoL subscales from the RAND-36 were compared between study subjects and previously published data from the Women’s Health Initiative (WHI). Comparisons were also made between studies on MS and RA. Results: Comparisons between the study population (202 women) and WHI indicated that all eight domains of HRQoL were significantly lower for women with Fabry disease with p<0.0001. HRQoL subscale scores were similar to the MS and RA populations. Conclusion: This study indicates that most women who carry mutations in the á-gal A gene will have clinically important symptoms, and emphasizes the importance of carefully evaluating women previously thought of as carriers for complications of Fabry disease. It will be critical to develop management protocols applicable to affected women.
Permanent Link: http://rave.ohiolink.edu/etdc/view?acc_num=ucin1109182046
http://hdl.handle.net/2374.OX/10061
Date: 2005

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