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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Cite this: Helmi L. Lutsep. Fast Five Quiz: Fabry Disease - Medscape - Apr 02, 2021.