Journal Article

Clinical features of acute attacks, chronic symptoms, and long-term complications among patients with acute hepatic porphyria in Japan: a real-world claims database study

Adachi, Tomohide, Horie, Yutaka, Yasuoka, Yuka

2023

Overview

Background Acute hepatic porphyria (AHP) is a family of rare genetic diseases, including acute intermittent porphyria, variegate porphyria, hereditary coproporphyria, and delta-aminolevulinic acid dehydratase-deficient porphyria. The objective of this retrospective cohort study was to provide information on the clinical features of AHP in Japan—including acute attacks, chronic symptoms, and long-term complications. Methods Patients with AHP between April 2008 and June 2020 were selected from Japan’s Medical Data Vision claims database. Patients with AHP were matched 1:10, by sex and age, to patients without AHP. The outcomes were evaluated overall, for patients age ≥ 55 years, and for the matched population. Results A total of 391 patients with AHP were included from the Japanese Medical Data Vision database. During the observation period (April 2008–June 2020), 18.2% (71/391) of patients experienced 1 acute attack and 10.5% (41/391) experienced ≥ 2 attacks. Chronic symptoms with rates ~ 10% or higher in the AHP population compared with the matched population included neurotic, stress-related, and somatoform disorders (21.7% vs. 6.7% [15.0% difference]); sleep disorders (23.0% vs. 9.9% [13.1% difference]); other and unspecified abdominal pain (13.6% vs. 3.7% [9.9% difference]); and nausea and vomiting, excluding chemotherapy-induced emesis (17.9% vs. 8.1% [9.8% difference]). Long-term complications with higher incidence rates in the AHP population compared with the matched population included fibrosis and cirrhosis of liver (15.9% vs. 3.0% [12.9% difference]), polyneuropathies and other disorders of the peripheral nervous system (20.5% vs. 7.9% [12.6% difference]), liver cancer (16.9% vs. 4.7% [12.2% difference]), renal failure (16.4% vs. 4.3% [12.1% difference]), and hypertension (26.1% vs. 18.8% [7.3% difference]). Among AHP patients age ≥ 55 years, the most common long-term complications were hypertension, kidney failure, and liver cancer. Conclusions In Japan, patients with AHP experience a high clinical burden in terms of acute attacks, chronic symptoms, and long-term complications. The clinical burden related to chronic symptoms and long-term complications was substantially higher in Japanese patients with AHP compared with a matched population without AHP. Recognizing these signs and symptoms of AHP may aid physicians in making an earlier diagnosis, which may help patients avoid attack triggers, implement disease management, and reduce lifetime disease burden.

• Publisher: BioMed Central,BioMed Central Ltd,Springer Nature B.V,BMC
• Subject: Abdomen / Aminolevulinic acid / Anxiety / Attacks / Chemotherapy / Chronic symptoms / Cirrhosis / Complications / Complications and side effects / Diagnosis / Disease prevention / Fibrosis / Genetic disorders / Health facilities / Hospitalizations / Human Genetics / Humans / Hypertension / Inherited metabolic diseases / Japan / Japan - epidemiology / Liver cancer / Liver cirrhosis / Liver Neoplasms / Medical research / Medicine / Medicine & Public Health / Middle Aged / Nausea / Nervous system / Observational studies / Pain / Patients / Pharmacology/Toxicology / Porphobilinogen Synthase - deficiency / Porphyria / Porphyria, Acute Intermittent - complications / Porphyria, Acute Intermittent - genetics / Porphyrias, Hepatic - complications / Porphyrias, Hepatic - epidemiology / Quality of life / Rare diseases / Renal failure / Retrospective Studies / Sleep disorders / Somatoform disorders / Statistics / Vomiting