Early diagnosis in porphyria key to better quality of life: 20-year study
Patients in Taiwan found to use more healthcare, have higher death rates
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Getting an early diagnosis could potentially improve quality of life and alleviate “healthcare burdens” for people in Taiwan who are living with porphyria, according to a 20-year nationwide study that showed higher mortality rates and a younger age at death for patients compared with the general population.
The retrospective, two-decade study also found far greater use of healthcare services for people with the rare genetic condition versus those without it.
While the overall number of diagnosed cases in Taiwan was lower than in many other countries, the researchers noted that an earlier diagnosis would allow people with porphyria to “receive appropriate treatment” and may improve patients’ life quality.
With porphyria, the “substantial disease burden not only diminishes quality of life but also places significant strain on the healthcare system. Early diagnosis is a critical initial step in improving clinical outcomes and reducing this burden,” the researchers wrote.
The study, “Epidemiological characteristics and natural history of porphyria – a twenty-year population-based analysis in Taiwan,” was published in the Orphanet Journal of Rare Diseases.
Porphyrias are a group of rare genetic conditions that disrupt the body’s ability to make heme, the molecule that allows red blood cells to carry oxygen throughout the body. Heme is produced through a multistep process that requires several enzymes. Each type of porphyria arises when one of these enzymes is missing or not functioning properly.
When that happens, the intermediate molecules used to build heme begin to accumulate to toxic levels, while the body produces too little heme overall. Together, these changes can lead to a wide range of symptoms, with attacks that can last days to weeks. Based on the organs they primarily affect, porphyrias are broadly grouped into acute porphyrias, which mainly involve the nervous system, and cutaneous porphyrias, which primarily affect the skin.
Likely underdiagnosis of porphyria tied to ‘delayed management’
“Owing to its rarity, porphyria may be underdiagnosed, resulting in delayed management,” the researchers wrote, noting that real-world data from everyday medical practice are essential for understanding how often porphyria occurs and for improving doctors’ awareness and early recognition of the condition.
To help close this knowledge gap, a research team analyzed health insurance records from 2001 to 2022 using Taiwan’s National Health Insurance Research Database. The database has recorded 99.9% of medical care across the country since its launch in 1995, through the study period.
Over these 20 years, the team identified 128 people with confirmed porphyria in a population that averaged about 23 million. After excluding two individuals with missing information, data from 126 patients were used in the final analysis.
Porphyria was more common in women, who accounted for 97 (77%) of the cases. The average age at diagnosis was 35.12 years, and patients were followed in the health system for an average of 10.32 years.
Across the study period, new diagnoses ranged from one to 14 per year, equivalent to 0.04 to 0.62 cases per million people each year. Overall, the number of people living with porphyria rose from 0.04 per million in 2002 to 5.15 per million in 2022. Still, the authors noted these figures were markedly lower than those seen in other countries.
During follow-up, eight people with porphyria died, corresponding to a mortality rate that was more than double the average in the general population, the researchers noted.
Patients with porphyria died at an average age of 62.38 years compared with 79.84 years nationally. Causes of death included infections, liver cancer, dementia, brain bleeds, stroke, and other serious complications.
Porphyia patients in Taiwain average 2-6 hospital admissions per year
Between 2001 and 2022, people with porphyria also frequently used outpatient care, most often visiting neurology clinics (10,448 visits), followed by family medicine (6,779), ear, nose, and throat clinics (5,493), internal medicine (5,046), and obstetrics and gynecology (3,886).
Many of these visits involved porphyria-related concerns, the data showed.
Under the older ICD-9 system, used until 2015, porphyria or related metabolic problems were documented 7,918 times, alongside common issues such as upper-respiratory infections (2,289), sinus infections (1,048), tonsillitis (620), and acute bronchitis (615). The ICD system is a global coding system that classifies diseases and health conditions, allowing them to be recorded and tracked consistently.
Under ICD-10, adopted in 2016, outpatient visits were most often associated with acute intermittent porphyria (AIP), the most common form of acute porphyrias, which appeared in 3,978 visit records, followed by unspecified porphyria (3,668) and congenital erythropoietic porphyria (CEP), the rarest type, recorded 1,025 times.
Porphyria patients have significantly higher rates of outpatient visits, emergency visits, hospital admissions, and mortality than the general population does, highlighting both a reduced quality of life and a substantial burden on the healthcare system.
On average, each person had between 15.99 and 35.54 outpatient visits per year, notably higher than the general population of Taiwan, which averaged 13.8 to 16.2 visits per year between 1998 and 2019.
Hospital care showed a similar pattern, with people with porphyria most often admitted to pediatrics, neurology, gastroenterology, oncology, and nephrology departments.
The main reasons for admission included porphyria-related metabolic issues, bowel motility problems, episodes of paranoid-type schizophrenia, noninfectious gastroenteritis and colitis, and connective-tissue conditions.
Under ICD-10 coding, AIP was once again the most common porphyria-related reason for hospitalization, with 664 admissions recorded, followed by unspecified porphyria (395 admissions) and other porphyria types (120 admissions).
Each year, a person with porphyria had an average of 2.06 to 6.58 hospital admissions — far higher than the general population, where hospital use averages about 0.11 to 0.15 admissions per person per year, according to the researchers.
Emergency-room use ranged from 2.85 to 9.11 visits per year, compared with 0.22 visits per person in the general population.
“Porphyria patients have significantly higher rates of outpatient visits, emergency visits, hospital admissions, and mortality than the general population does, highlighting both a reduced quality of life and a substantial burden on the healthcare system,” the researchers wrote.
New treatments makes early diagnosis more important, researchers say
The scientists emphasized that with new and effective porphyria treatments now available — including those for AIP, the most common subtype found in Taiwan — an early diagnosis is especially important.
That means better education and knowledge of porphyria is key, for both patients and healthcare providers, according to the team.
“Increasing awareness could improve patient outcomes while reducing the strain on healthcare resources,” the researchers concluded.
