Genetic Diseases of Hypotension

Abstract

Publisher Summary Norepinephrine and epinephrine thus seem so important to human beings that it seemed unlikely for many years that subjects without these catecholamines would survive the perinatal period and develop to adulthood. The view has changed with recognition of a congenital syndrome of severe orthostatic hypotension, noradrenergic failure, and ptosis of the eyelids in two young adults. The syndrome differs from familial dysautonornia and various other autonomic disorders seen in adults in that the defect can be localized to the noradrenergic and adrenergic tissues. As children, DBH-deficient patients have had a markedly reduced ability to exercise, perhaps because of hypotension engendered by the physical exertion. Because of occasional syncope, anticonvulsive medications have been given in some patients, even though no abnormality was seen on the electroencephalogram. Efforts to treat DBH deficiency have also led to surprising observations. Fludrocortisone at relatively high doses has successfully raised blood pressure with some benefit. Indomethacin also has been of modest benefit in raising blood pressure, but one patient had aggressive ideation while receiving this drug. The monoamine oxidase inhibitor tranylcypromine also produced paranoid thinking in one patient. There has been a reasonable pressor response to phenylpropanolamine, perhaps because of the hypersensitive 1-adreno-receptors in these patients.