Photo Credit: Ilya Burdun

The following is a summary of “Real-world assessment of the patient profile, clinical characteristics, treatment patterns, and outcomes associated with erythropoietic and X-linked protoporphyria,” published in the January 2025 issue of Dermatology by Silver et al. 

Erythropoietic protoporphyria (EPP) and X-linked protoporphyria (XLP) are rare genetic disorders with limited data on the real-world management.  

Researchers conducted a retrospective study to demonstrate the characteristics and treatment patterns of patients diagnosed with EPP or XLP in real-world settings in the United States.  

They reviewed medical records of patients diagnosed with EPP (n=299) or XLP (n=91) before July 1, 2020. Data were analyzed for demographic and clinical characteristics, diagnostic tests, therapy recommendations, office visits, emergency department visits, and hospitalizations, with healthcare resource costs assigned. The mean time from the first documented symptom to diagnosis was 2.9 (standard deviation (SD) 5.1; median 1.3) years. The most common pre-diagnostic tests were liver function, total plasma and erythrocyte protoporphyrin, genetic tests, and renal function.  

The results showed that 85% of patients were advised to use sunscreen, and 83% were advised to modify their lifestyle. Within 12 months of diagnosis, the mean (SD; median) number of office visits, emergency department visits, and hospitalizations for EPP or XLP were 4.0 (3.5; 3.0), 0.8 (1.6; 0), and 0.4 (1.3; 0), respectively.  

Investigators concluded the patients with EPP or XLP had unmet needs, including delays in diagnosis, symptom relief, and effective prevention of phototoxic reactions. 

Source: onlinelibrary.wiley.com/doi/full/10.1111/1346-8138.17607