Fast Five Quiz: Fabry Disease

Helmi L. Lutsep, MD


April 02, 2021

The National Society of Genetic Counselors recommends testing for any patient with a family history of Fabry disease, or any patient who exhibits corneal verticillata ("whorls") on slit-lamp exam.

Testing of patients who have any of the following two features is also recommended:

  • Decreased sweating (anhidrosis or hypohidrosis)

  • Reddish-purple rash in the bathing trunk area (angiokeratomas)

  • Personal or family history of kidney failure

  • Personal or family history of "burning" or "hot" pain in the hands and feet, particularly during fevers (acroparesthesias)

  • Personal or family history of exercise, heat, or cold intolerance

  • A family history of sporadic or non–autosomal dominant (no male-to-male) transmission of unexplained cardiac hypertrophy

In cases where there may be a family history of Fabry disease, genetic testing and counseling should be offered to all family members regardless of sex.

Learn more about the genetics of Fabry disease.


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