Background Acute Hepatic Porphyrias (AHP) are mostly autosomal dominant inborn metabolic errors of one of the enzymes involved in the heme biosynthetic pathway. Clinical manifestations in acute attacks comprise abdominal pain, autonomic features, progressive peripheral neuropathy, PRESS-like syndrome, hyponatremia, hypertension, psychiatric features, encephalopathy and coma. Nevertheless, a subset of patients can experience recurrent acute attacks that can be not only life-threating, but also chronically debilitating.

Methods Retrospective data from patient records and clinical questionnaires with patients with acute porphyrias followed in a reference center in Brazil

Results 24 patients (20 females and four males) were enrolled. Media age of symptons onset was 22 years (range: 12–47 years). All patients reported recurrent porphyria related symptoms, such as pain, neurological and/or psychiatric disorders, nevertheless other systemic complications as hypertension and chronic kidney disease were seen in 10 patients. All patient – but one - had high levels of delta-aminolevulinic acid and porphobilinogen measured in 24 hours urine collection. 10 out of 20 female patients were treated with induced menopause lasting 1–2 years, and 4/27 received the treatment of hematin All patients had ate least one acute attack in t three months. The median frequency of acute attacks in the last year was 3 times (0–12 times), and the duration of every attack was 8 days (4–20 days). Analgesic dependency to opioid was a problem in 12 patients. Heme therapy was initiated in all patients with remission of the symptoms in most of the patients for more than 6 months in its first use; recurrent attacks followed by repeated heme injections seemed to alleviate symptoms for a shorter period of time. Orthotopic liver transplant was performed in three patients with recurrent attacks (one of the patients passed away one month after liver transplant due to fulminant heart attack, apparently not related to porphyria).

Conclusions Our cohort of patients showed frequent recurrent attacks of acute porphyria ( >3 per year) requiring in most of them intravenous heme therapy. Although for patients with recurrent attacks prophylactic heme infusions may be benefic in remitting the symptoms, a subset of patients showed less response to this therapy overtime. Not only facing a debilitating disease state, but patients with recurrent attacks can also bear a significant burden on health care systems. Acute porphyria patients who suffer from recurrent attacks also report a low quality of life (QoL) and a negative impact on several aspects of everyday life, such as unemployment, personal relationships and long-term disability.