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Fabry disease and G6PD in three family members with priapism: is the nitric oxide pathway to blame?

Rebecca Backenroth1, Ezekiel H Landau, Miri Goren

  • 1Department of Nephrology, Hadassah Hebrew University Medical Center, Jerusalem, Israel.

The Journal of Sexual Medicine
|January 28, 2010
PubMed

Insights

Priapism may be a clinical symptom of Fabry disease, a genetic disorder affecting multiple systems. The nitric oxide pathway may link Fabry disease and glucose-6-phosphate dehydrogenase deficiency to priapism.

Area of Science:

  • Genetics and rare diseases
  • Vascular biology
  • Metabolic disorders

Background:

  • Fabry disease is an X-linked disorder caused by alpha-galactosidase A deficiency, leading to glycosphingolipid accumulation.
  • This accumulation primarily affects vascular endothelium, impacting cardiovascular, renal, and neurologic systems.

Observation:

  • A familial cluster of priapism was observed in three males with Fabry disease and glucose-6-phosphate dehydrogenase (G6PD) deficiency.
  • Literature review identified six additional cases of priapism in males with Fabry disease and two with G6PD deficiency.

Findings:

  • Priapism is a rare but reported manifestation in males within the Fabry registry.
  • A potential link between Fabry disease, G6PD deficiency, and priapism is suggested through derangements in the nitric oxide (NO) pathway.

Implications:

  • Priapism should be considered a potential clinical symptom in patients with Fabry disease.
  • Fabry disease warrants inclusion in the differential diagnosis for priapism.
  • Further research is needed to elucidate the role of NO metabolism in Fabry disease manifestations, especially concerning G6PD deficiency.
Abstract

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