Patient Perspective on Acute Hepatic Porphyria with Sporadic Attacks: A Chronic Disease with Substantial Health-Related Quality of Life Impacts.

ABSTRACT:

Introduction

Acute hepatic porphyria (AHP) is a family of rare metabolic diseases characterized by potentially life-threatening acute attacks and, in some patients, chronic debilitating symptoms. While patients with frequent or recurrent attacks (three or more attacks annually) are known to have reduced health-related quality of life (HRQoL) as most aspects of daily living are impacted, limited data exist in patients with sporadic attacks. This research aims to identify porphyria-related symptoms between attacks, characterize the frequency, severity, and bothersomeness of these symptoms, and more generally understand the burden of this disease in patients who experience attacks sporadically.

Methods

Patients with AHP with sporadic attacks (AHP-SA) (at least one porphyria att

SUBMITTER: Wheeden K 

PROVIDER: S-EPMC9402748 | biostudies-literature | 2022 Sep

REPOSITORIES: biostudies-literature