Medical and financial burden of acute intermittent porphyria.
Neeleman RA, Wagenmakers MAEM, Koole-Lesuis RH, Mijnhout GS, Wilson JHP, Friesema ECH, Langendonk JG
Journal of inherited metabolic disease, 2018 09
Abstract
A small proportion of patients with acute intermittent porphyria (AIP) suffer from recurrent porphyric attacks, with a severely diminished quality of life. In this retrospective case-control study, the burden of disease is quantified and compared among three AIP patient subgroups: cases with recurrent attacks, cases with one or occasional attacks and asymptomatic carriers.