Efficacy of oral sildenafil in a beraprost-treated patient with severe pulmonary hypertension secondary to type I glycogen storage disease

Circ J. 2009 Oct;73(10):1965-8. doi: 10.1253/circj.cj-08-0181. Epub 2009 Jan 27.

Abstract

Pulmonary arterial hypertension (PAH) is a rare complication of glycogen storage disease (GSD), and several cases with a poor outcome have been reported. A 17-year-old boy, who was diagnosed with GSD at 1 year of age, complained of shortness of breath on exertion, and was diagnosed with PAH based on the echocardiographic findings. Beraprost sodium (BPS) was started, and his symptoms improved after 3 months of treatment. Eighteen months later, he experienced frequent episodes of syncope. Because increasing the dose of BPS was ineffective, he was admitted to hospital. The echocardiogram showed marked elevation of the right ventricular pressure and low cardiac output, and his symptoms deteriorated despite continuous infusion of olprinone hydrochloride. Because a single dose of sildenafil increased his cardiac output, treatment with 25 mg sildenafil twice daily was started. His symptoms gradually ameliorated, and 3 weeks later he left the hospital. Two months after starting sildenafil, the cardiac index and the serous B-type natriuretic peptide concentration had become normal. Sildenafil may be effective in patients with secondary PAH and in patients who have developed tolerance to BPS.

Publication types

  • Case Reports

MeSH terms

  • Administration, Oral
  • Adolescent
  • Antihypertensive Agents / administration & dosage*
  • Drug Tolerance
  • Echocardiography
  • Electrocardiography
  • Epoprostenol / administration & dosage
  • Epoprostenol / analogs & derivatives*
  • Glycogen Storage Disease Type I / complications*
  • Glycogen Storage Disease Type I / physiopathology
  • Hemodynamics / drug effects
  • Humans
  • Hypertension, Pulmonary / complications
  • Hypertension, Pulmonary / drug therapy*
  • Hypertension, Pulmonary / physiopathology
  • Male
  • Natriuretic Peptide, Brain / blood
  • Piperazines / administration & dosage*
  • Purines / administration & dosage
  • Severity of Illness Index
  • Sildenafil Citrate
  • Sulfones / administration & dosage*
  • Syncope / etiology
  • Syncope / physiopathology
  • Treatment Outcome
  • Vasodilator Agents / administration & dosage*

Substances

  • Antihypertensive Agents
  • Piperazines
  • Purines
  • Sulfones
  • Vasodilator Agents
  • Natriuretic Peptide, Brain
  • beraprost
  • Sildenafil Citrate
  • Epoprostenol