What does Fabry disease really look like across patients—and why is it so often misunderstood? In this episode of DNA Today, we’re taking a deep dive into Fabry disease, a rare X-linked lysosomal storage disorder with highly variable presentations, especially between genders.

Joining us is Dr. Amy Kritzer, a clinical geneticist and a leading expert in metabolic disorders in Boston, Massachusetts. We explore why the “carrier” label doesn’t apply to females, the challenges of delayed diagnosis, and the importance of cascade screening for families.

We want to thank Amicus Therapeutics for sponsoring this episode and point out that our conversation is intended for U.S. healthcare professionals.

Topics Covered in This Episode

What Fabry disease is and how it affects the body.
The impact of Fabry’s X-linked inheritance on clinical presentation.
Why the term “just a carrier” is misleading for females or people with two X chromosomes.
Variability in disease expression among females and key clinical cases.
Classic vs. later-onset Fabry phenotypes and diagnostic challenges.
Common signs and symptoms that often go unrecognized.
Barriers leading to delayed diagnosis and under-recognition.
Benefits of early detection and cascade family screening.
Managing variants of uncertain significance (VUS) in the GLA gene.
Limits of genotype–phenotype correlations in Fabry disease.
Psychosocial challenges for families living with a Fabry diagnosis.
Advice for clinicians and genetic counselors evaluating potential Fabry patients.

Resources & Links

The brand new website, FindingFabry.com has additional information and resources.
Amicus’ website here also has information about Fabry disease.
Patients’ stories about living with Fabry disease.

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#376 Why Females with Fabry Disease Aren’t “Just Carriers”