Brazilian registry of patients with porphyria: REBRAPPO study

Abstract

Background Porphyrias are a rare group of disease due to inherited defects of heme synthesis with important systemic manifestations and great burden of disease for patients and families due to the exceptional course of disease with disabling chronic symptoms interposed by life-threatening acute attacks. Unfortunately, the porphyrias are usually underrecognized reflecting a lack of medical and disease awareness as well as few studies about natural history in large cohorts of patients. The main aim of this article is present consistent data about natural history and burden of disease in a large Brazilian cohort. Methods We conducted a national cross-sectional registry with retrospective clinical data of Brazilian patients with porphyria collected with Brazilian patients Association with Porphyria in collaboration with a tertiary care center for rare diseases. Results A cohort of 172 patients was analyzed in which 148 (86%) patients had the diagnosis of acute hepatic porphyria [AHP] that needed a mean of 62.04 medical visits and 9.6 years to achieve a definitive diagnosis. About AHP cohort, the most common first clinical manifestation were abdominal pain in 77 (52%) patients and acute muscle weakness in 23 (15.5%) with 73 (49.3%) patients presenting only one attack during disease course and 37 (25%) exhibiting 4 or more attacks in the last year. Of note, 105 patients with AHP reported chronic manifestations and the scores for quality of life are lower when compared with general healthy population. Conclusions Brazilian patients with AHP had a higher prevalence of chronic disabling manifestations and a poor quality of life like other cohorts and a higher proportion of patients with recurrent attacks than previously reported.

A case report of acute intermittent porphyria leading to severe disability

“…Acute attacks manifest as the classic triad of abdominal pain, neurological symptoms, and psychiatric abnormalities ( 5 ). An analysis of the REBRAPPO study, which examines Brazilian patients suffering from porphyria, reveals that among 148 individuals diagnosed with AHP, the most common initial clinical manifestations were abdominal pain in 77 patients (52.0%) and acute muscle weakness in 23 patients (15.5%) ( 7 ). Similarly, a prospective, multinational observational study of patients with recurrent AHP found that 92% of patients experienced abdominal pain, while 91% presented with a change in urine color.…”

Neurofilament light chain as a biomarker for acute hepatic porphyrias

“…Lately, a growing body of research has highlighted that individuals with AHPs experiencing sporadic attacks face substantial declines in their quality of life and exhibit a high frequency of chronic symptoms, resulting in a notable medical and economic burden (7,9,17,(22)(23)(24).…”

“…A significant proportion of patients with AHPs, around 65-70% in large cohorts, experience chronic symptoms that markedly impair their quality of life, requiring extensive pharmacological treatment and clinical management, regardless of the number of attacks experienced throughout the course of the disease (7)(8)(9).…”

“…Patients experiencing recurrent or sporadic attacks in AHPs often report progressive physical and neurological deterioration, including symptoms such as pain, fatigue, depression, anxiety, insomnia, gastrointestinal issues (such as constipation, nausea, vomiting), and neuropathy. Individuals with recurrent attacks also may encounter challenges in adapting to the limitations imposed by disease, negatively impacting their relationships and work activities (7)(8)(9).…”

Clinical feature and genetic analysis of HMBS gene in Chinese patients with acute intermittent porphyria: a systematic review

“…A prospective, multinational, natural History study showed abdominal pain is the most common symptom during acute attacks (92%) ( Gouya et al, 2020 ), which is consistent with our results. However, the incidence of abdominal pain in the Chinese patients is significantly higher than that in Brazilian patients (77/172,52%) ( Souza et al, 2023 ).…”