EPP diagnosis urged for young people with skin, liver issues
Report describes case of woman whose disease went undiagnosed for years
A combination of skin and liver problems in a young person should prompt doctors to suspect erythropoietic protoporphyria (EPP), according to a case report about a woman who’d had signs of sun sensitivity related to EPP since childhood that had gone undiagnosed.
By the time she reached the researchers’ clinic at age 21, she had severe liver disease that required a transplant.
The findings show the need for doctors to be better trained to recognize early skin manifestations of EPP in children so interventions can be started to prevent liver disease, the researchers noted. The report, “Jaundice in an Adult Female Patient With Photosensitivity,” was published in the ACG Case Reports Journal.
Porphyria refers to a group of rare genetic disorders wherein the production of heme — a molecule that enables red blood cells to transport oxygen through the body — is disrupted, causing its precursors, known as porphyrins, to accumulate. In EPP, which is caused by FECH gene mutations, protoporphyrin accumulates in red blood cells, the skin, and the liver.
The hallmark symptom is light sensitivity, or photosensitivity, marked by painful skin reactions with sun exposure that usually begin in childhood. The skin manifestations of EPP can be nonspecific and overlap with more common conditions in children, such as allergies or eczema.
Some people with EPP also have liver involvement. Cholestasis, or the stalled flow of the digestive fluid bile out of the liver, can lead to jaundice, a yellowing of the skin and eyes that occurs when bile components accumulate in the bloodstream. Jaundice also manifests in other common liver diseases.
While photosensitivity and jaundice individually could suggest a number of different disorders, “their concurrence, especially in young patients, may indicate … porphyrias,” the researchers wrote.
Reaching an EPP diagnosis
The woman, 21, had had severe photosensitivity since she was a child, with painful burning that led to swelling and redness on her hands and face after exposure. She came to the researchers’ clinic with progressive jaundice and abdominal discomfort, and reported that two weeks earlier, she’d had fatigue, appetite loss, jaundice, and dark reddish urine discoloration. She didn’t report any notable risk factors for liver disease.
A physical examination showed she appeared jaundiced, but was stable without a fever or other signs of chronic liver disease. A dermatologic exam showed skin dryness, scaling, and thickening. The physicians considered that she might have hepatitis, but lab and imaging tests ruled that out. Still, there was evidence of liver injury due to an unexplained cause.
Skin and liver biopsies showed characteristic signs of porphyria and evidence of protoporphyrin accumulation. The findings pointed toward an EPP diagnosis, and genetic testing confirmed FECH mutations.
The woman was treated with supportive care and advised to avoid the sun. Her liver disease progressed, however, and a liver transplant was needed three months after her initial hospital admission.
Although her liver function improved and jaundice eased, the woman’s red blood cell precursors continued overproducing protoporphyrin. She had a stem cell transplant to prevent disease recurrence in the new liver. Still, more than a year after the transplant, the woman developed a fungal infection and died from multi-organ failure, despite treatment and intensive supportive care.
“This case highlights the importance of recognizing [skin] photosensitivity and cholestatic jaundice as signs of porphyrias, especially EPP,” the researchers wrote. “Educational initiatives that emphasize the identification of early cutaneous manifestations may promote timely referrals, advance genetic counseling, and support the implementation of preventative strategies before the onset of [liver] involvement.”
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