XXXX in the USA: Features of 108 Subjects from Porphyria Consortium.

@entity8868 @entity308 @entity101 @entity146 @entity262 @entity6050 @entity740 @entity148 @entity6052 @entity302 @entity490 @entity9 @entity10154
BACKGROUND: Recent descriptions of the clinical and laboratory features of subjects with @entity6052 in the US are lacking. Our aim was to describe clinical, biochemical and genetic features of 108 subjects. METHODS: Between Sep 2010-Dec 2012, 108 subjects with @entity6052 [90 acute intermittent @entity6050 , 9 @entity10154 , 9 variegate @entity6050 ] were enrolled into an observational study. Genetic testing was performed at a central genetic testing laboratory and clinical information entered into a central data base. Selected features were compared to data for adults in the USA. RESULTS: Most subjects [88/108, 81%] were female with self-reported onset of symptoms in 2(nd)-4(th) decades of life. The most common symptom was @entity490 . Appendectomies and cholecystectomies were common prior to a diagnosis of @entity6050 . The diagnosis was delayed by a mean of 15 years. @entity148 and @entity308 were common, and 18% complained of chronic symptoms, especially @entity9 . The incidences of and @entity262 arterial @entity101 , @entity740 , @entity302 , and @entity146 conditions were markedly increased. Mutations of the known causative genes were found in 102/105 of those tested, with novel mutations being found in 37 including in 7/8 subjects with @entity10154 . Therapy with intravenous @entity8868 was the most effective therapy both for treatment of acute attacks and for prevention of recurrent attacks. CONCLUSIONS: @entity6052 often remain undiagnosed for more than a decade after first symptoms develop. Intravenous hematin is the treatment of choice, both for treatment of acute attacks and for prevention of recurrent attacks. TRIAL REGISTRATION: clinicaltrials.gov identifier: NCT01561157.
