When the diagnosis is written in the DNA: a case of erythropoietic protoporphyria in a patient with a chromosome 18 deletion

Abstract

We present a case of erythropoietic protoporphyria (EPP) in a 21-year-old man who sought medical attention in April 2022 due to diffuse edema and erythema of the hands, which he had been experiencing since childhood and occurring shortly after sun exposure. The patient's medical history revealed a partial deletion of the long arm of chromosome 18. Based on the patient's medical background and clinical symptoms, we conducted various tests, including measuring total erythrocyte protoporphyrin levels and evaluating the fluorometric emission peak of plasma porphyrins using a spectrofluorometer. Additionally, a genetic analysis revealed a complete deletion of the FECH gene on one allele and the presence of an intronic variant on the other allele, identified as c.315–48T>C (IVS3–48T>C) and classified as a susceptibility polymorphism. In June 2022, the patient underwent an Afamelanotide implant, which resulted in an improvement in his clinical condition.

Keywords

• Erythropoietic protoporphyria
• chromosome 18
• afamelanotide