Acute porphyrias in the USA: features of 108 subjects from porphyrias consortium.

ABSTRACT:

Background

Recent descriptions of the clinical and laboratory features of subjects with acute porphyrias in the US are lacking. Our aim was to describe clinical, biochemical, and genetic features of 108 subjects.

Methods

Between September 2010 and December 2012, 108 subjects with acute porphyrias (90 acute intermittent porphyrias, 9 hereditary coproporphyrias, 9 variegate porphyrias) were enrolled into an observational study. Genetic testing was performed at a central genetic testing laboratory and clinical information entered into a central database. Selected features were compared with data for adults in the US.

Results

Most subjects (88/108, 81%) were female, with self-reported onset of symptoms in the second through fourth decades of life. The most common symptom

SUBMITTER: Bonkovsky HL 

PROVIDER: S-EPMC4563803 | biostudies-literature | 2014 Dec

REPOSITORIES: biostudies-literature