Fabryfacts.com is intended for United States Healthcare Professionals Only. If you are person living with Fabry disease, visit the patient website at www.FabryConnect.com.

Diagnosis and Gender

Diagnosis in males and females is different

In males, an absence or low levels of alpha-Gal A activity in blood leukocytes or cultured skin fibroblasts is determinant.1

In females, alpha-Gal A activity may appear normal in blood leukocytes and cultured fibroblasts, thus requiring GLA gene sequencing.1,2

The road to a Fabry disease diagnosis can be long and difficult

It is estimated that patients visit an average of 10 different specialists before a Fabry disease diagnosis is confirmed, leading to a delay of approximately 15 years in men and women from the onset of first symptoms to diagnosis.1,3 Earlier genetic testing in patients with a family history of Fabry disease, and screening newborns in general, could help to reduce this delay and potentially identify patients with Fabry disease before symptoms begin, so that disease management can be optimized and personalized over time.2

For families affected by Fabry disease, GLA gene sequencing and pedigree analysis can characterize the disease-causing mutation and help to identify previously unrecognized, affected family members.2,4 An online family tree is available to help patients and their families complete their family tree and highlight at-risk relatives.

Family Tree Tool

Help your patients and their families understand the importance of completing a family tree and highlighting at-risk relatives with this online resource.

Visit Family Tree Tool Now
See how Fabry disease
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  1. Rozenfeld PA. Fabry disease: treatment and diagnosis. IUBMB Life. 2009;61(11):1043-1050.
  2. Germain DP. Fabry disease. Orphanet J Rare Dis. 2010;5:30.
  3. Wilcox WR, Oliveira JP, Hopkin RJ, et al. Females with Fabry disease frequently have major organ involvement: lessons from the Fabry Registry. Mol Genet Metab. 2008;93(2):112-128.
  4. Yousef Z, Elliott PM, Cecchi F, et al. Left ventricular hypertrophy in Fabry disease: a practical approach to diagnosis. Eur Heart J. 2013;34(11):802-808.