Fabry Disease Practice Guidelines: Recommendations of the National Society of Genetic Counselors

Abstract

Identification and comprehensive care of individuals who have Fabry disease (FD) requires a multidisciplinary approach inclusive of genetic testing, test interpretation, genetic counseling, long term disease symptom monitoring, treatment recommendations, and coordination of therapy. The purpose of this document is to provide health care professionals with guidelines for testing, care coordination, identification of psychosocial issues, and to facilitate a better understanding of disease treatment expert recommendations for patients with Fabry disease. These recommendations are the opinions of a multicenter working group of genetic counselors, medical geneticists, and other health professionals with expertise in Fabry disease counseling, as well as representatives/founders of the two United States based Fabry disease patient advocacy groups who are themselves affected by Fabry disease. The recommendations are U.S. Preventive Task Force Class III, and they are based on clinical experience, a review of pertinent English-language articles, and reports of expert committees. This document reviews the genetics of Fabry disease, the indications for genetic testing, interpretation of results, psychosocial considerations, and references to professional and patient resources.

A Retrospective Survey Studying the Impact of Fabry Disease on Pregnancy

“…This study also confirms that females with FD report a significant incidence of proteinuria and hypertension during pregnancy; however, there was no increased incidence of strokes, end-stage renal disease, or other related life-threatening complications in this population. Building on the current FD guidelines, this survey supports the recommendation that pregnant women with FD be evaluated and, in some cases, monitored throughout pregnancy by a maternal-fetal specialist in addition to standard prenatal care (Laney et al 2013).…”

“…Fabry disease (FD) is an X-linked lysosomal storage disorder with an estimated incidence in at least 1 in 10,000 women in the United States (Desnick et al 2001a, b;Kampmann et al 2002;Laney et al 2013). FD is caused by a deficiency or lack of the lysosomal enzyme a-galactosidase A (a-gal A; EC 3.2.1.22).…”

“…Reduced amounts of a-gal A enzyme result in the buildup of globotriaosylceramide (GL3) and associated glycosphingolipids in the lysosome of cells throughout the body. GL3 storage in the endothelial lining of blood vessels leads to narrowing and constriction of cardiac, renal, and central nervous system vessels over time causing progressive damage of renal and epithelial cells, myocardial cells, neuronal cells, endothelial, and smooth muscle cells (Eng et al 2006;Laney et al 2013).…”

Fabry disease in infancy and early childhood: a systematic literature review

“…3,17,18,25,54 After confirming the diagnosis of Fabry disease, the American College of Medical Genetics and Genomics published guidelines for pediatric patients, which include the following:…”

The neurological manifestations of Fabry disease. A review

“…Диагностика и комплексное лчение пациентов с бо-лезнью Фабри требуют мультидисциплинарного подхода, включающего генетическое тестирование, интерпрета-ЖУРНАЛ НЕВРОЛОГИИ И ПСИХИАТРИИ, 9, 2016 В ПОМОЩЬ ПРАКТИЧЕСКОМУ ВРАЧУ цию тестов, генетическое консультирование, долговре-менное мониторирование симптомов болезни, выработку рекомендаций по лечению, координацию терапии прово-димой врачами разных специальностей [137]. …”