Study finds link between acute porphyria, high healthcare needs
Comorbidities, hospitalizations higher than among general public
A study in Germany found that people with acute porphyria had significant healthcare needs and a higher number of comorbidities (other medical conditions) than the country’s general publication, resulting in increased use of the healthcare system.
The findings “highlight the need for healthcare strategies and policies tailored to the complex needs of acute porphyria patients,” the researchers wrote. Their study, “High disease burden and healthcare resource usage in patients with acute porphyria—A population-based analysis,” was published in Liver International.
Porphyria, a chronic disease caused by defects in heme production in the liver, has diverse clinical presentations and significant complications. The disease is classified according to acute and cutaneous types. Acute porphyrias are known for sudden, potentially severe attacks that can include neurological and non-neurological symptoms.
Real-world data on porphyria prevalence is limited, and “systematic studies on the disease burden in this population are scarce,” the researchers wrote. One European study found it affected 9.1 people per million, and another put the prevalence in Germany at 11 per million.
The researchers set out to gain insight into the prevalence of acute porphyria, patient characteristics, and care in Germany, using data from national health insurers.
Matching patients
They analyzed data from 5.47 million people over six years. Between January 2019 and December 2020 (the study’s index period), 420 of them, aged 12 and older, were diagnosed with acute porphyria. The researchers matched 405 of these patients with two reference groups — 405 fibromyalgia patients and 405 people with no diagnosis of acute porphyria or fibromyalgia — for age and sex.
During the index period, 339 patients (83.7%) had no acute porphyria attacks and were classified as chronic patients with no active disease; 30 patients (7.4%) had active porphyria with at least two attacks within 12 months; and the remaining 36 patients (8.9%) had active porphyria with fewer than two attacks within 12 months. A porphyria attack was defined as either a hospital admission with a primary diagnosis of acute porphyria, or an emergency outpatient visit with an acute porphyria diagnosis.
Data showed that acute porphyria’s prevalence was 79.8 per million people. Extrapolated to the German population, this corresponds to 6,641 porphyria patients in the country. Looking at only those with active disease, researchers found a prevalence of 12.9 per million, corresponding to 1,075 porphyria patients in the country.
The median age of all acute porphyria patients was 53. Female patients comprised 62.5% of the group analyzed.
The team found that 29.9% of all porphyria patients reported gastrointestinal comorbidities in the year before their porphyria diagnosis, compared with 22.2% of the general population. Renal (kidney) comorbidities were diagnosed in 10.6% of porphyria patients, versus 6.4% in the general population. About 20.5% of patients presented nervous system disorders, vs. 11.6% in the general population, and 30.4% had psychiatric disorders, vs. 18% in the general population.
All these comorbidities, with the exception of renal diseases, were more common in the group with fibromyalgia than in the group with porphyria.
Pain was reported in 15.6% of all porphyria patients, compared with 4.2% in the general population. In all three patient groups, the percentage of those experiencing pain increased with the number of attacks: 14.2% among chronic patients, 16.7% in those with active disease with fewer than two attacks, and 30.2% in those with active disease and at least two attacks.
“Acute porphyria patients, particularly with frequent attacks, demonstrated a higher comorbidity burden compared to the general population,” the team wrote.
In particular, acute porphyria patients with at least two attacks had more frequent renal comorbidities and nervous system issues than porphyria patients with less frequent or no attacks.
Active porphyria patients received significantly more pain medication than those with a chronic disease course (no attacks).
Tests, hospitalizations, sick days higher for porphyria patients
Blood, immunological, and cytological examinations in the year before diagnosis were also significantly higher among porphyria patients than in the general population. During the same period, porphyria patients had a median of 23 physician visits, significantly higher than the general population’s median of 16 but lower that the median of 35.2 visits reported in the fibromyalgia group. The number of consultations among porphyria patients increased with the number of attacks.
In the year before a porphyria diagnosis, 33.8% of patients were hospitalized at least once, a value notably higher than the 19.3% for the general population. Among porphyria groups, the ones with at least two attacks had a higher proportion of hospitalizations (53.3%), compared with those with less than two attacks (52.8%) and those with a chronic disease course (30.1%).
On average, porphyria patients took 16 sick days in the year before their diagnosis, significantly more than the 13 days taken by the general population.
Overall, “acute porphyria places a considerable burden … on patients and on the healthcare system,” the team concluded. “The increased frequency of doctor visits, hospitalizations, and sick leave among acute porphyria patients, particularly those with higher attack frequency, calls for a recalibration of healthcare strategies tailored to this vulnerable population.”
Stratifying patients based on attack frequency provides nuanced insights into their healthcare needs, which is crucial for designing patient-centered interventions, the researchers said.
Study limitations included the retrospective nature of the data, which may introduce biases and overlook certain patient experiences, and the fact that Germany’s healthcare system separates outpatient and inpatient care, limiting the generalization of the findings to other countries. Also, some treatments were approved after the years analyzed in the study.
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