Case highlights need for awareness, prompt diagnosis of EPP

Teen had experienced nonblistering photosensitivity for most of his life

Marisa Wexler, MS avatar

by Marisa Wexler, MS |

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A man is shown with red blotches on his skin under a magnifying glass held by one doctor as another takes notes.

When patients have unusual sunlight sensitivity combined with liver damage, the possible diagnosis of erythropoietic protoporphyria (EPP) should be considered, a recent study highlights.

“Although rare, EPP is an important cause of nonblistering, cutaneous [skin] photosensitivity that may lead to hepatic [liver] involvement. Awareness and appropriate diagnostic work-up is required to avoid delays in diagnosis, which can severely impair quality of life in these patients,” the researchers wrote.

The report, “An Enigmatic Case of Jaundice and Photosensitivity in an Adolescent,” was published in the ACG Case Reports Journal.

EPP is a type of porphyria caused by mutations in the FECH gene, leading to the toxic buildup of a molecule called protoporphyrin. EPP is usually marked by photosensitivity — skin damage resulting from sunlight exposure — without blistering. Liver damage is a rare, but serious complication of EPP.

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Scientists at the Postgraduate Institute of Medical Education and Research in Chandigarh, India, described the case of a 16-year-old boy who was diagnosed with EPP at their clinic.

The boy had experienced nonblistering photosensitivity for most of his life.

In the five months before being admitted to the researchers’ clinic, he had been experiencing jaundice — yellowing of the skin, which is usually a sign of liver damage — that was getting progressively worse. He also had been experiencing bouts of abdominal pain that occurred once or twice a month and usually lasted a week or slightly longer.

Clinical examinations and initial laboratory tests broadly showed signs of liver damage, prompting an extensive workup to test for infections and autoimmune diseases that can cause liver problems. However, these tests did not reveal anything out of the ordinary.

‘Medusa-head’ blobs characteristic of protoporphyrin

A liver biopsy, a procedure in which a small sample of liver tissue is collected and taken for laboratory analyses, was then performed. Initial tissue examination under a microscope revealed signs of damage and fibrosis (scarring), as well as the presence of many unusual brown pigment blobs amidst liver cells.

More detailed analyses of these tissues using an electron microscope showed that these blobs had a “Medusa-head” appearance, which is characteristic of protoporphyrin that builds up in EPP.

Genetic testing then revealed the presence of two disease-causing mutations in the FECH gene, confirming the diagnosis of EPP. The specific mutations found in this patient, which have both been previously reported, are known as c.481+1G>A and c.333-48T>C.

Researchers noted “this is the first report of these FECH variants in an Indian patient.”

The patient has been treated with ursodeoxycholic acid, a medication that can help prompt protoporphyrin to be excreted, or removed, from the liver into the bile; cholestyramine, a cholesterol-lowering medication that can help prevent protoporphyrin from entering the liver; plasma exchange to lower the levels of protoporphyrin in the bloodstream; and vitamin E supplements that have antioxidant and possible cell-protecting effects.

These therapies partially eased his symptoms and improved his liver health. He has been counseled to undergo liver and bone marrow transplants, and he and his family now are considering their next steps.

“Liver transplant is not a definitive cure because there is a high chance of recurrence because of continued production of protoporphyrin in the bone marrow,” the researchers wrote. “Hence, liver transplant followed by bone marrow transplant should be considered when indicated and feasible.”

Collectively, scientists concluded this case highlights the importance for clinicians to be aware of EPP so patients can be diagnosed early, which can allow appropriate care to start being given before more serious problems develop.