Self-efficacy and self-management strategies in acute intermittent porphyria.

ABSTRACT:

Background

Acute intermittent porphyria (AIP) is an inherited metabolic disease with low clinical penetrance caused by mutations in the hydroxymethylbilane (HMBS) gene. Although most patients experience little or no symptoms, serious attacks may include excruciating pain, severe electrolyte disturbances, paresis, and respiratory failure. Several drugs and lifestyle factors are potential attack inducers and avoiding known triggers is important to avoid symptomatic disease in both patients and genetically predisposed carriers. Our aim in this study was to describe self-efficacy and self-management strategies in self-reported symptomatic and asymptomatic HMBS mutation carriers, and to elucidate motives for predictive genetic testing.

Methods

This is a cross-sectional retrospect

SUBMITTER: Hammersland MH 

PROVIDER: S-EPMC6607542 | biostudies-literature | 2019 Jul

REPOSITORIES: biostudies-literature