Identifying family members at risk

Because Fabry disease is an X-linked inherited disorder, the disease may run through several generations within one family. Once a patient is diagnosed with Fabry disease, pedigree analysis and effective screening may very likely result in identification of several other family members suffering from Fabry disease. To this end, a genetic counselor can help in directing families to diagnostic, medical, and support services. Studies indicate that one to five family members may be diagnosed following diagnosis of a proband, with approximately twice as many female family members found to be affected with Fabry disease as males. Laney DA and Fernhoff PM. Diagnosis of Fabry disease via analysis of family history. J Genet Couns 2008;17(1):79–83.<br /> Laney DA, et al. Fabry disease practice guidelines: recommendations of the national society of genetic counselors. J Genet Counsel 2013;22(5):555-64. Constructing and interpreting an appropriate family history to identify at-risk family members, and providing testing information to patients and physicians, are extremely effective in supporting the diagnosis of Fabry disease.

Given the typical delay between symptom onset and confirmation of Fabry disease, Germain DP. Fabry Disease. Orphanet J Rare Dis. 2010 Nov 22;5:30. doi: 10.1186/1750-1172-5-30. a decrease in time to diagnosis through family screening offers significant opportunity to reduce symptoms and prevent late complications of Fabry disease. Laney DA and Fernhoff PM. Diagnosis of Fabry disease via analysis of family history. J Genet Couns 2008;17(1):79–83.