EPP Case 2: Breakthrough Phototoxicity in a Young Construction Worker

"EPP Case 2: Breakthrough Phototoxicity in a Young Construction Worker" takes up a second case, this one involving a young man whose livelihood depends on controlling his symptoms.

Dr. Bonkovsky presents a 24-year-old construction worker who has been reassigned from framing crews to indoor tasks for the second time this year. His supervisor has warned that further accommodations may not be possible. He was diagnosed with EPP at age 12 after a long history of immediate painful photosensitivity and has relied on photoprotection alone. He now has breakthrough episodes several times a month. Burning, stinging, and deep pain begin within 10 to 20 minutes of direct sun in spring and summer and can last for hours. He uses tinted mineral sunscreen and protective clothing but removes gloves and sleeves in summer heat, and his schedule does not allow him to avoid midday sun.

Dr. Bonkovsky notes that keeping a white zinc oxide paste on the hands during manual work is difficult. The patient has also tinted his vehicle windows and tried oral beta carotene as a child without benefit. Laboratory tests show mildly elevated aminotransferases with normal bilirubin and hemoglobin, and his vitamin D is still low despite supplementation, so he would benefit from a higher dose. A hepatic ultrasound shows no significant disease, although its sensitivity and specificity are limited and the gallbladder should be checked for stones.

On liver monitoring, Dr. Bonkovsky again emphasizes hepatitis A and B immunization. Men should have no more than two drinks a day, preferably about one, women no more than one, and physicians should choose the lower-risk drug when a cholestatic option exists. He would obtain a baseline FibroScan. If stiffness rises or aminotransferases stay elevated over three to six months, he would perform a needle biopsy and look for protoporphyrin precipitates, including pathognomonic Maltese crosses. For this patient he would move to bitopertin expanded access or afamelanotide implants, and ideally to indoor work.

Our next episode, "Melanocortin Therapy in EPP: Access, Adherence, and Multidisciplinary Care," examines therapy after the second case, including access barriers, adherence, and how specialists should share care.