Monitoring Patients on Afamelanotide for EPP: Skin Exams, Labs, and Counseling

In this Dermatology Times Expert Perspectives video series episode, Elizabeth Buzney, MD, a dermatologist at Brigham and Women's Hospital and part of Mass General Brigham Dermatology in Boston, Massachusetts, shared her clinical approach to follow-up care for patients with erythropoietic protoporphyria (EPP) receiving afamelanotide. Buzney outlined the monitoring parameters she uses, how she tailors treatment schedules to individual patients, and a counseling point she described as counterintuitive but essential.

Skin Surveillance and Pigmentation Changes

The most important dermatologic monitoring consideration, Buzney said, is routine skin exams with attention to pigmentation changes. Many patients' skin tans while on afamelanotide, and existing moles darken as well. She emphasized afamelanotide does not cause melanoma, but the pigmentation changes complicate surveillance.

"Their moles are changing, they are darkening, and so it makes it more difficult to identify—in theory—if there had been a mole changing in such a way as to imply melanoma," Buzney said. "Not that the drug itself is causing melanoma, but rather the moles are changing, and we have to continue to monitor them as a result."

Buzney conducts skin exams every 6 months for patients on afamelanotide.

Laboratory Monitoring and Implant Site Assessment

Liver function test monitoring is part of Buzney's standard follow-up protocol, driven by the hepatic risk intrinsic to EPP rather than the drug itself. She pairs liver function tests with protoporphyrin testing annually, or more frequently if concerning changes emerge. Implant site reactions are also assessed at each visit, though she noted local reactions occur infrequently.

"I typically do protoporphyrin testing along with liver function test testing once yearly, or more frequently if there seems to be a need for it," Buzney said.

Seasonal Treatment and Sun Protection Counseling

Buzney tailors treatment schedules to each patient's symptom patterns and lifestyle. In Boston, some patients discontinue treatment over winter months when outdoor exposure is minimal, while others, particularly those with visible light sensitivity or who participate in winter outdoor activities such as snow sports, require year-round treatment.

She also highlighted a counseling challenge unique to this patient population: for many EPP patients, afamelanotide is the first time they can tolerate sun exposure, making sun protection education a new and necessary conversation.

"You start having to reinforce sun protective behavior in conjunction with treatment; this is for patients who have never gone out in the sun before, and all of a sudden you're giving them a medication allowing them to go out in the sun," Buzney said. "They may be so excited to be able to go out in the sun that they overdo it, and so this is also very important."

She covers all of these points both at implant visits and during the skin exams she schedules every 6 months.