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

introductionAcute 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.

methodsPatients with AHP with sporadic attacks (AHP-SA) (at least one porphyria attack in the past 2 years, but no more than two attacks per year in the previous 2 years) were recruited, via outreach performed by patient advocacy groups, for participation in qualitative telephone interviews. Interviews were conducted using a semi-structured guide and were audio-recorded, transcribed, anonymized, coded, and analyzed to determine if saturation was reached.

resultsA total of 14 participants with AHP-SA were interviewed (mean age 45 years, 100% female). The most frequently reported chronic symptoms were fatigue, pain, heartburn, and constipation. The most frequently experienced chronic impacts were difficulty performing daily activities, difficulty exercising, negative impact on work, need for a special diet, anxiety, and depression. Beyond these chronic symptoms and impacts, participants also frequently described flares in their porphyria that were severe, did not qualify in their minds as an acute attack, but were nonetheless more severe than their typical chronic experience.

conclusionPatients with acute hepatic porphyria who experience sporadic attacks face significant chronic symptoms and impacts that frequently require significant pharmacological and clinical treatment. The reported severity of these symptoms and impacts suggests that the humanistic burden of AHP-SA is substantial and may lead to a significant decrease in health-related quality of life in these patients between acute attacks. The presence of flares that do not reach the level of what is considered an acute attack by patients is a unique finding of this study not reported elsewhere and requires additional investigation.