Pulmonary arterial hypertension and type-I glycogen-storage disease: the serotonin hypothesis

Eur Respir J. 2002 Jul;20(1):59-65. doi: 10.1183/09031936.02.00258702.

Abstract

A case of pulmonary arterial hypertension in a patient with type-Ia glycogen-storage disease, a rare autosomal recessive disorder caused by a deficiency of glucose-6-phosphatase is reported in this study. It has been suggested that the occurrence of pulmonary arterial hypertension in type-Ia glycogen-storage disease could be due to an abnormal production of vasoconstrictive amines such as serotonin. To test this hypothesis, plasma serotonin concentrations were prospectively measured in 13 patients with type-Ia glycogen-storage disease, one patient with severe pulmonary hypertension and type-Ia glycogen-storage disease, 16 patients displaying severe pulmonary arterial hypertension, and 26 normal healthy controls. Elevated plasma serotonin concentrations were found in patients with either severe pulmonary arterial hypertension (38.8+/-7.3 nmol x L(-1)) or type-Ia glycogen-storage disease (36.8+/-11.5 nmol x L(-1)), as compared with controls (8.8+/-0.6 nmol x L(-1), p<0.001). Plasma serotonin was dramatically elevated in the patient with type-Ia glycogen-storage disease and pulmonary arterial hypertension (113.4 nmol x L(-1)). It is concluded that type-Ia glycogen-storage disease may be another condition in which abnormal handling of serotonin is one event in a multistep process leading to severe pulmonary arterial hypertension.

Publication types

  • Case Reports
  • Research Support, Non-U.S. Gov't

MeSH terms

  • Adolescent
  • Adult
  • Child
  • Child, Preschool
  • Female
  • Free Radical Scavengers / blood*
  • Glycogen Storage Disease Type I / blood*
  • Glycogen Storage Disease Type I / complications*
  • Glycogen Storage Disease Type I / genetics
  • Humans
  • Hypertension, Pulmonary / blood*
  • Hypertension, Pulmonary / etiology*
  • Hypertension, Pulmonary / genetics
  • Male
  • Prospective Studies
  • Serotonin / blood*
  • Severity of Illness Index

Substances

  • Free Radical Scavengers
  • Serotonin