OBJECTIVES: Erythropoietic protoporphyria (EPP) and X-linked protoporphyria (XLP) are rare genetic disorders of the heme biosynthetic pathway that cause acute and painful cutaneous phototoxic reactions. Comprehensive studies on the healthcare costs of these disorders in the United States (US) are lacking, thus we sought to document the healthcare resource use and costs among patients with EPP and XLP in routine clinical practice.
METHODS: A retrospective medical record review of patients diagnosed with EPP or XLP at any time prior to July 1, 2020, was conducted. Data were analyzed from 136 US physicians, representing the records of 299 patients with EPP and 91 patients with XLP. Costs in 2022 US dollars were assigned to healthcare resources (diagnostic testing, specialist referrals, prescription therapy, emergency department visits, and inpatient hospitalizations) derived from established sources.
RESULTS: Mean (SD) direct per-patient diagnostic pathway cost (testing and specialist referrals) was $601.54 ($518.50), which was driven primarily by referrals to specialists ($330.64 [$432.35]). Following diagnosis, mean (SD) direct per-patient cost of tests and specialist referrals within the first year of diagnosis was $397.68 ($432.02), driven primarily by specialist referrals ($244.21 [$320.57]), of which dermatology referrals were most costly ($81.74 [$110.27]). 263 patients (67% of the total sample) received a prescription for EPP/XLP; the total mean (SD) per-patient cost of prescription therapy was $27,177.59 ($109,181.97), with a median per-patient prescription cost of $192.66. The direct per-patient cost of inpatient hospitalizations and emergency department visits between symptom onset and 12 months following diagnosis was $2,731.85 ($7,270.04).
CONCLUSIONS: EPP and XLP are associated with significant healthcare costs and require multiple specialist referrals and testing.
