Delayed diagnosis, high healthcare costs in porphyrias EPP, XLP: Study
A real-world study analyzed medical records of patients in the US
Multiple testing and specialist appointments are often needed for diagnosing erythropoietic protoporphyria (EPP) and X-linked protoporphyria (XLP), and both conditions are frequently associated with significant healthcare costs.
That’s according to a real-world study that analyzed the medical records of EPP and XLP patients in the U.S. The patients waited about three years to receive an accurate diagnosis and were often advised to avoid sunlight exposure. Few received specific treatments, like Scenesse (afamelanotide) for EPP.
The study demonstrates that “patients with EPP or XLP have several unmet needs, including timely and accurate diagnosis, symptom relief, and efficacious prevention of phototoxic reactions,” the researchers wrote. The study, “Real-world assessment of the patient profile, clinical characteristics, treatment patterns, and outcomes associated with erythropoietic and X-linked protoporphyria,” was published in The Journal of Dermatology.
Porphyria includes genetic disorders caused by disruptions in producing heme, a molecule needed for oxygen transport in red blood cells. Each type of porphyria is associated with a deficiency or dysfunction in a specific enzyme involved in heme production. EPP and XLP are caused by mutations in the FECH and ALAS2 genes, respectively, that lead to increased protoporphyrin levels. In both conditions, skin is hypersensitive to sunlight and certain artificial lights.
Evaluating EPP, XLP diagnoses, costs
However, “there are limited data regarding how these disorders are managed in real-world settings,” wrote the researchers, who retrospectively analyzed 386 medical records of EPP and XLP patients diagnosed in the U.S. on or before July 2020. The records were obtained from 136 healthcare practitioners, including dermatologists (skin specialists), general practitioners, and other specialists, most of whom were physicians. Most patients were diagnosed with EPP (76%), while 23% had XLP, and 1% had both.
Most patients were male and white. The EPP patients had a mean age of 18.6 at the time of the onset of their symptom, while the XLP patients had a mean age of 22.3. The mean time between the first symptom documented in a medical record and diagnosis was almost three years.
Patients were referred to specialists a mean of 2.8 times before their diagnosis, mainly dermatologists and blood disease specialists, called hematologists. A diagnosis most often involved blood tests to assess liver function (60% of XLP patients, 66% of EPP patients) and protoporphyrin levels (60% vs. 62%), along with genetic testing (56% vs. 60%).
After their diagnosis, patients were mainly advised to use sunscreen (74% vs. 88%) and modify their lifestyle, including avoiding sunlight exposure (80% vs. 85%). Within the first year after diagnosis, the patients had a mean of four consultations, mostly for routine care, and were referred to specialists a mean of 2.1 times.
The average cost from symptom onset to diagnosis was about $600 per patient, and $400 in the year after a diagnosis. This was mainly driven by referrals to specialists and diagnostic tests.
Only about a third of the patients visited an emergency department and were hospitalized due to EPP or XLP, but the visits resulted in a mean cost of about $2,700 per patient.
The total average cost of prescribed medications and procedures was $27,000 per patient. According to researchers, these costs “were determined based on the average wholesale price paid by providers [and are] not necessarily a reflection of the actual price paid to wholesalers, and does not reflect insurance costs or out-of-pocket costs to the patient.”
The most commonly prescribed medications were Scenesse, used by 18% of the patients, followed by antidepressants (14%), cholestyramine and nonsteroid anti-inflammatory medications (13% each).
“This study indicates that patients and [healthcare providers] may benefit from education toward increasing their awareness of EPP and XLP,” the researchers wrote. “These disorders are associated with significant healthcare costs and require multiple specialist referrals and testing.”
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