RT Journal Article
SR Electronic
T1 Pulmonary arterial hypertension and type-I glycogen-storage disease: the serotonin hypothesis
JF European Respiratory Journal
JO Eur Respir J
FD European Respiratory Society
SP 59
OP 65
DO 10.1183/09031936.02.00258702
VO 20
IS 1
A1 M. Humbert
A1 P. Labrune
A1 O. Sitbon
A1 C. Le Gall
A1 J. Callebert
A1 P. Hervé
A1 D. Samuel
A1 R. Machado
A1 R. Trembath
A1 L. Drouet
A1 J-M. Launay
A1 G. Simonneau
YR 2002
UL http://erj.ersjournals.com/content/20/1/59.abstract
AB 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·L−1) or type-Ia glycogen-storage disease (36.8±11.5 nmol·L−1), as compared with controls (8.8±0.6 nmol·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·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. This study was supported by grants from Universite Paris-Sud, Institut National de la Santé et de la Médicale (INSERM) and Association Francaise contre les Myopathies (AFM).