Fabry Disease Inheritance Pattern

Fabry disease inheritance pattern

In Fabry disease, affected mothers have a 50% risk of passing along the affected GLA gene to their children regardless of gender, while affected fathers pass along the affected GLA gene to all of their daughters and to none of their sons.¹

A positive family history is a strong indicator for Fabry disease, however de novo or spontaneous variants have been documented.^2,3 Consequently, absence of a family history does not rule out a diagnosis of Fabry disease.

Importance of family screening

Once an index case of Fabry disease is diagnosed, at-risk family members can be potentially diagnosed at a younger age, allowing for earlier disease management. Family screening and pedigree analysis can be especially helpful for identifying females at risk for Fabry disease. 

A Family Tree is one tool that may help patients consider who in their family may be affected. Family screening can help find patients earlier in their disease course.

A Sanofi Patient Education Liaison can help patients create their Medical Family Tree. The liaison can also help patients better understand the testing, genetic counseling, and disease management options available for them and their families.

Your patients should consider the importance of talking to other family members about Fabry disease

Consider talking to your patients about the importance of speaking with family members about the disease.

Family screening

For every index patient diagnosed, an average of five additional affected family members may be identified.⁴ A Medical Family Tree is the first step in identifying other family members at risk of having Fabry disease. When you diagnose a Fabry patient, you make an earlier diagnosis possible for other family members.⁵

Test the patient, test the family

The Sanofi Patient Education Liaison

A Patient Education Liaison can help patients better understand the testing, genetic counseling, and disease management options available for them and their families.

The Medical Family Tree

Creating a pedigree in the form of a Medical Family Tree can help patients understand the inheritance pattern in their families and their risk of passing on Fabry disease. A Medical Genetic Counselor or Sanofi Patient Education Liaison can help patients complete their Medical Family Tree.

Testing sites

Labs across the United States offer diagnostic tests for Fabry disease, and some provide the service free of charge.
Below are some options available to you and your patients.

Sites with Diagnostic Testing for Fabry

*In free testing programs, patients may be responsible for nominal costs such as the cost of the blood draw and overnight shipping to the lab.
**GL3 is also known as GB-3. Lyso-GL3 is also known as Lyso-GB3.

This is not an all-inclusive list.
For additional testing centers that perform diagnostic testing, please visit www.ncbi.nlm.nih.gov/gtr/

This list of testing programs and/or laboratories is provided for informational use only. It should not be considered a recommendation or endorsement of any company, test, or service.

Physicians should contact the individual testing programs and/or laboratories for information on obtaining test requisitions, sample requirements, turnaround time, and the specific details of the services provided. For commercial lab testing, appropriate coding and obtaining reimbursement is the responsibility of the provider submitting a claim for the item or service.

References: 1. Germain DP. Orphanet J Rare Dis. 2010;5(30):1-49. 2. Desnick RJ et al. In: The Online Metabolic and Molecular Bases of Inherited Diseases. New York, NY: McGraw Hill; 2014:1-64. 3. Redonnet-Vernhet I et al. J Met Genet. 1996;33(8):682-688. 4. Laney DA et al. J Genet Couns. 2008;17(1):79-83. 5. Nakao S et al. Kidney Int. 2003;64(3):801-807.