| Geno
|
Mag
|
Summary
|
| (C;C)
|
0
|
common in clinvar
|
| (C;T)
|
3
|
Carrier of a Fabry disease mutation; X-linked so risk is to sons
|
| (T;T)
|
6
|
Fabry disease
|
This is a genotype with recommended actions if clinically confirmed. In brief:
- Inherited as an X-linked recessive disorder, Fabry disease encompasses a spectrum of phenotypes. The classic form occurs in males with less than 1% α-Gal A enzyme activity with periodic crises of severe pain in the extremities, appearance of vascular cutaneous lesions, hypohidrosis (diminished sweating response), proteinuria, and corneal and lenticular opacities. Disease progression can lead to cardiac, kidney and/or cerebrovascular disease.
- Heterozygous (carrier) females typically have milder and more variable symptoms.
- Patients should undergo baseline evaluation by a multidisciplinary team. Evaluation should include a complete physical and psychological exam including quality of life, measurement of α-Gal A levels, and examination of the following systems: renal, cardiac, neurologic, ear/nose/throat, ophthalmologic, pulmonary, gastrointestinal, and skeletal.
- Due to the high risk of vascular events patients should be discouraged from smoking.
The full ClinGen Actionability report about Fabry disease can be found
here.
Genetic counseling may be available to you through your health-care network. In the US, genetic counselors may be found via this webpage of the National Society of Genetic Counselors.
