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

Mol Genet Metab. 2016 Nov;119(3):278-283. doi: 10.1016/j.ymgme.2016.08.006. Epub 2016 Aug 24.


Background: The 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.

Methods: Sixteen 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.

Results: All 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.

Conclusion: Patients 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.

Keywords: Acute hepatic porphyria; Acute intermittent porphyria; Focus groups; Psychosocial experiences; Quality of life.

Publication types

  • Research Support, N.I.H., Extramural

MeSH terms

  • Adult
  • Aged
  • Female
  • Heme / biosynthesis
  • Heme / metabolism
  • Humans
  • Male
  • Middle Aged
  • Patients / psychology*
  • Physician-Patient Relations
  • Porphobilinogen Synthase / deficiency*
  • Porphobilinogen Synthase / metabolism
  • Porphyrias, Hepatic / epidemiology
  • Porphyrias, Hepatic / metabolism
  • Porphyrias, Hepatic / physiopathology*
  • Porphyrias, Hepatic / psychology*
  • Quality of Life


  • Heme
  • Porphobilinogen Synthase

Supplementary concepts

  • Porphyria, Acute Hepatic