Experiences and concerns of patients with recurrent attacks of acute hepatic porphyria: A qualitative study

•All AHP patients identified prodromal symptoms days prior to acute severe pain.•Patients used alternative treatments to manage pain with varying effectiveness.•Stress was reported by many patients to cause acute attacks or worsen chronic pain.•Individualized support is crucial for AHP patients with recurrent attacks.

BackgroundThe acute hepatic porphyrias (AHPs) are rare inborn errors of heme biosynthesis, characterized clinically by life-threatening acute neurovisceral attacks. Patients with recurrent attacks have a decreased quality of life (QoL); however, no interactive assessment of these patients' views has been reported. We conducted guided discussions regarding specific topics, to explore patients' disease experience and its impact on their lives.MethodsSixteen AHP patients experiencing acute attacks were recruited to moderator-led online focus groups. Five groups (3-4 patients each) were conducted and thematic analyses to identify, examine, and categorize patterns in the data was performed.ResultsAll patients identified prodromal symptoms that began days prior to acute severe pain; the most common included confusion (“brain fog"), irritability, and fatigue. Patients avoided hospitalization due to prior poor experiences with physician knowledge of AHPs or their treatment. All patients used complementary and alternative medicine treatments to avoid hospitalization or manage chronic pain and 81% reported varying degrees of effectiveness. All patients indicated their disease impacted personal relationships due to feelings of isolation and difficulty adjusting to the disease's limitations.ConclusionPatients with recurrent attacks recognize prodromal warning symptoms, attempt to avoid hospitalization, turn to alternative treatments, and have markedly impaired QoL. Counseling and individualized support is crucial for AHP patients with recurrent attacks.