Long-term follow-up of acute porphyria in female patients: Update of clinical outcome and life expectancy.

ABSTRACT:

Background

Acute hepatic porphyria includes four inherited disorders caused by partial deficiencies of enzymes related to the heme biosynthesis. Clinical manifestations include acute attacks, occurring mainly among female patients. This study describes the diversity of acute symptoms, changes in triggering factors and life expectancy among female patients during the past five decades.

Methods

107 Finnish female patients were enrolled into a retrospective, longitudinal study during 2015. Clinical, biochemical and genetic data was obtained from the medical reports, registry data and a questionnaire designed for the study. Causes of death were studied in additional 32 female patients.

Results

Of the 43 patients with hospitalization, 33% had non-complicated, 35% prolonged

SUBMITTER: Baumann K 

PROVIDER: S-EPMC8856918 | biostudies-literature | 2022 Mar

REPOSITORIES: biostudies-literature