The Impact of Fabry Disease on Reproductive Fitness.
Fabry disease (FD) is a pan-ethnic, X-linked, progressive lysosomal storage disorder caused by pathogenic mutations in the GLA gene. Published case reports and abstracts suggest that decreased reproductive fitness may occur in males with FD. In order to understand the impact of FD on reproductive fitness and increase the accuracy of reproductive genetic counseling, this study examines a large, multi-centered population of individuals with FD to determine if males have reduced reproductive fitness. Study data were collected on 376 patients through two, gender-specific surveys distributed across the United States and Canada. The number of biological live-born children among individuals with FD was compared to statistics from the general population. Information was also collected on reduced sperm count, depression, pain, use of assisted reproductive technology, and reproductive choice. On average, females affected by FD had more biological live-born children (1.8) than males affected by FD (1.1). However, males affected by FD had an increased mean number of biological children (1.1) compared to the mean number of biological children fathered by men in the United States (0.9). Sixteen of the 134 males with FD reported oligospermia, which suggests that an infertility work up may be indicated for males having difficulty impregnating their partners. In our large multicenter sample, males and females with FD do not exhibit reduced reproductive fitness; on average they have more biological children than the general population in the United States. This information should assist clinicians in providing accurate reproductive genetic counseling and treatment for individuals with FD.
Division of Medical Genetics, Department of Human Genetics, Emory University School of Medicine, 2165 North Decatur Road, Decatur, GA, 30033, USA. dawn.laney@emory.edu.
Dawn A
DA
Laney
Neurology Department, Massachusetts General Hospital, Boston, MA, USA.
Virginia
V
Clarke
Division of Medical Genetics, Department of Human Genetics, Emory University School of Medicine, 2165 North Decatur Road, Decatur, GA, 30033, USA.
Allison
A
Foley
Department of Epidemiology, Emory University Rollins School of Public Health, Atlanta, GA, USA.
Eric W
EW
Hall
Department of Pediatrics, Emory University School of Medicine, Atlanta, GA, USA.
Scott E
SE
Gillespie
Division of Medical Genetics, Stead Family Department of Pediatrics, University of Iowa, Iowa City, IA, USA.
Myrl
M
Holida
Division of Medical Genetics, Department of Human Genetics, Emory University School of Medicine, 2165 North Decatur Road, Decatur, GA, 30033, USA.
Morgan
M
Simmons
University of Oklahoma Health Sciences Center, Oklahoma City, OK, USA.
Alexandrea
A
Wadley