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Poorly Controlled Homocystinuria: A Rare Cause of Ischemic Priapism?

Mark Johnson1, Elaine Murphy2, Amr Raheem1

  • 1Andrology Department, University College London Hospital, London, UK.

Sexual Medicine
|February 22, 2018
PubMed

Insights

This study presents the first case of ischemic priapism caused by homocystinuria, a metabolic disorder. Early detection and standard treatments are effective for this rare condition.

Area of Science:

  • Urology
  • Metabolic Disorders
  • Vascular Medicine

Background:

  • Homocystinuria is a rare inherited metabolic disorder characterized by high homocysteine levels.
  • Hyperhomocysteinemia significantly increases the risk of thromboembolic events, contributing to mortality and morbidity.
  • Elevated homocysteine levels are linked to reduced nitric oxide (NO) production, potentially affecting vascular function.

Purpose of the Study:

  • To report the first documented case of ischemic priapism secondary to poorly controlled homocystinuria.
  • To explore the potential pathophysiological mechanism linking homocystinuria to priapism via nitric oxide downregulation.
  • To highlight the importance of considering homocystinuria in patients presenting with priapism and discuss management strategies.

Main Methods:

  • Case report of a patient with ischemic priapism.
  • Review of the literature on homocystinuria, hyperhomocysteinemia, and priapism.
  • Discussion of the proposed pathophysiological link involving nitric oxide synthase (NOS) and related pathways.

Main Results:

  • The study details the first case of ischemic priapism attributed to poorly controlled homocystinuria.
  • A potential mechanism involving decreased nitric oxide (NO) bioavailability due to hyperhomocysteinemia is proposed.
  • Standard priapism treatments, including aspiration, phenylephrine injection, and shunting, were effective.

Conclusions:

  • Homocystinuria should be considered in the differential diagnosis of ischemic priapism, particularly in patients with suggestive features.
  • Screening for elevated plasma total homocysteine may be beneficial in selected priapism cases.
  • Ischemic priapism secondary to homocystinuria appears responsive to established treatment protocols.

Keywords:
HomocystinuriaIschemic PriapismPriapism

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