# Epidemiological characteristics and natural history of porphyria – a twenty-year population-based analysis in Taiwan

## TL;DR

This study provides insights into the epidemiology and healthcare impact of porphyria in Taiwan over 20 years, highlighting high mortality and the need for early diagnosis.

## Contribution

The study presents population-based epidemiological data on porphyria in Taiwan, including incidence, prevalence, and healthcare utilization patterns.

## Key findings

- Porphyria prevalence in Taiwan was 5.15 per million in 2022, with a mortality rate of 1543.4 per 100,000.
- Healthcare utilization for porphyria patients was over 2-fold higher than in the general population.
- Neurology, family medicine, and otolaryngology accounted for most outpatient visits, while hospitalizations were common in pediatrics and gastroenterology.

## Abstract

Porphyrias are a group of rare, genetic disorders of heme biosynthesis in which reduced activity of any of the eight pathway enzymes leads to accumulation of intermediates and distinct clinical syndromes. These disorders are heterogeneous—not a single polymorphic condition—and are associated with impaired quality of life and increased mortality. Global epidemiological data, particularly from Asia, remain limited. This study analyzes population-based data from Taiwan to provide real-world evidence.

This study utilized the Taiwan National Health Insurance Research Database (~ 23 million population), which is linked with the Cause of Death Database and the Registry for National Health Insurance Catastrophic Illness Card database. Cases were validated through the rare disease registry of the Health Promotion Administration. The annual case numbers (2002–2022) were analyzed, with follow-up data on survival and causes of death. Outpatient and inpatient visits by specialty (2001–2022) and the average annual number of medical visits per person (2001–2022), including outpatient, inpatient and emergency visits, were assessed.

Among 126 patients with porphyria, 77.0% were female, with a mean age at diagnosis of 35.12 years. The annual incidence ranges from 0.04 to 0.62 per million, with a prevalence of 5.15 per million in 2022. The neurology, family medicine, and otolaryngology departments accounted for the most outpatient visits, whereas hospitalizations were common in the pediatrics, neurology, and gastroenterology departments. The mortality rate was 1543.4 per 100,000 people, and healthcare utilization was significantly 2-fold and above than that in the general population.

The incidence and prevalence of porphyria in Taiwan are lower than those reported in previous studies. The high mortality rate and diverse clinical manifestations emphasize the need for early diagnosis and timely management to reduce the disease burden.

The online version contains supplementary material available at 10.1186/s13023-025-04110-7.