Genetics of Fabry Disease Follow-up

Updated: Aug 23, 2018
  • Author: Robert J Desnick, MD, PhD; Chief Editor: Maria Descartes, MD  more...
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Follow-up

Further Outpatient Care

Genetic counseling is necessary for the proband, and a careful pedigree should be obtained to identify all family members potentially affected by Fabry disease.

Because Fabry disease is an X-linked recessive trait, all daughters of affected males are carriers, and no sons of affected males have the gene for Fabry disease. Typically, mothers of probands are obligate carriers, and their siblings should be considered at risk.

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Inpatient & Outpatient Medications

See Treatment.

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Transfer

Transfer to a center with specialists familiar with Fabry disease may be indicated.

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Deterrence/Prevention

Prenatal testing can be performed in women who are pregnant and are carriers of the gene to identify fetuses affected with Fabry disease. A karyotype should be obtained first to identify if the fetus is male. Enzyme activity can then be measured, using either chorionic villus sampling (CVS) or amniotic fluid samples.

If the mutation carried in the family is known, DNA can be isolated from CVS or amniotic fluid samples, and genotyping can be performed.

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Complications

As with all chronic illnesses, patients are at risk for anxiety disorders, depression, or both.

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Prognosis

Prognosis for patients with Fabry disease has improved with the more widespread use of advanced medical techniques, such as hemodialysis and renal transplant.

Enzyme replacement therapy (ERT) has demonstrated favorable results in modifying long-term complications of Fabry disease. Early treatment with ERT to prevent irreversible damage to the organs seems reasonable.

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