Opinion|Videos|November 11, 2026
EPP Patient Case: Laboratory Findings and Commitment to Clinical Research
Author(s)Herbert Bonkovsky, MD
Laboratory and imaging findings show severe disease with preserved liver health, and the patient explains why he stayed in clinical trials. His closing message reflects the value of research participation for future patients.
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"EPP Patient Case: Laboratory Findings and Commitment to Clinical Research" closes the series with a review of Mr. Willis's data and his reasons for staying in research.
Dr. Bonkovsky reviews Mr. Willis's laboratory and imaging findings. His erythrocyte protoporphyrin has averaged between 3,100 and over 6,000 micrograms per deciliter, far above the roughly 500 typically needed for symptoms, which marks severe disease. Photosensitivity also depends on how well the liver clears protoporphyrin, so he stresses hepatitis A and B vaccination, minimal alcohol, and avoidance of cholestatic drugs. Plasma protoporphyrin has also run high, in keeping with severe disease, and most patients never reach the 14 to 21 range. Mr. Willis has a chronically low white count, mildly low platelets, mild splenomegaly, low ferritin, and low transferrin saturation.
His liver has fared well. FibroScan stiffness has remained normal, and a biopsy taken during his acute episode looked relatively normal, so he has no cirrhosis. Liver fat rose on FibroScan but improved with weight loss, and he continues on bitopertin through expanded access.
Dr. Bonkovsky asks why Mr. Willis never took afamelanotide after approval. Mr. Willis cites accessibility, since approved clinics are far away, and says he wanted to stay in the testing process to help children who come after him.
Dr. Bonkovsky then turns to Mr. Willis's family. Disease generally requires two abnormal alleles, his wife is unaffected, and none of his children or grandchildren has symptoms. His three biological children were tested, and one daughter carries only the minor ferrochelatase variant. Mr. Willis recalls a great-uncle, a farmer whose hands swelled and split in the sun and who was never diagnosed.
Dr. Bonkovsky thanks him for his willingness to join trials, which advance the field and bring new treatments to the clinic. Mr. Willis thanks Dr. Bonkovsky for his research over the years and says he does not know where patients would be without him and others who started so long ago.
Thank you for watching this Dermatology Times Case-Based Peer Perspectives series on erythropoietic protoporphyria. Please subscribe to our eNewsletter for information on upcoming video series.
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