CEP patient needed liver transplant after developing PSVD in rare case

Report highlights that condition 'can indeed manifest' in this porphyria type

Andrea Lobo, PhD avatar

by Andrea Lobo, PhD |

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A 21-year-old woman with congenital erythropoietic porphyria (CEP) — the rarest type of porphyria — required a liver transplant after she developed porto-sinusoidal vascular disease (PSVD), a condition characterized by high blood pressure, or hypertension, in the portal vein that runs through the liver.

According to the authors, this study highlights that “PSVD can indeed manifest in CEP, emphasizing the need for monitoring of [liver] function in affected patients.”

The case was described in “Porto-Sinusoidal Vascular Disease in Congenital Erythropoietic Porphyria Needing Liver Transplantation,” a report published in the ACG Case Reports Journal.

“We report a unique case of a patient with CEP who developed porto-sinusoidal vascular disease with complications of portal hypertension that necessitated liver transplantation,” the researchers wrote.

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Patient diagnosed in infancy found to have PSVD as adult

Porphyria encompasses a group of genetic disorders caused by the disruption in the cascade of producing heme, a molecule needed to transport oxygen throughout the body. When this occurs, porphyrins and their precursors accumulate to toxic levels, most commonly in the skin, causing a series of symptoms.

CEP, most often seen in infancy, is the most rare form of porphyria and is caused by mutations in the UROS or GATA1 genes. Symptoms are present at birth, and include severe light sensitivity and subsequent infections that can lead to the loss of fingers and facial features. Liver involvement has also been reported in people with CEP.

“However, there are no reports of [PSVD] with portal hypertensive complications requiring liver transplantation (LT) in patients with CEP,” the researchers wrote.

Here, a team in the U.S. described the case of a young woman who had been diagnosed with CEP when she was 1 month old. She was evaluated after experiencing recurrent ascites, or fluid buildup in the abdomen, that did not respond to treatments.

She avoided sun exposure, which prevented acute porphyria attacks, and was not on chronic medication.

At age 20, she experienced sudden-onset blood vomiting and abdominal swelling, which led her to seek treatment. At the time, she required blood transfusions, as her hemoglobin levels were very low. Hemoglobin is the protein that carries oxygen in red blood cells.

The patient was found to also have enlarged veins, or varices, with active bleeding in the esophagus, as well as ascites.

She underwent a procedure called paracentesis to remove fluid from the abdomen and started treatment to prevent varices, as well as to manage hypertension and ascites. Despite this, she continued having to undergo paracentesis every two to three weeks to remove fluid from her abdomen.

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Patient reportedly doing well 2 months after liver transplant

At the described time of treatment, the woman had scarring in sun-exposed areas, and showed signs of anemia and ascites. Laboratory evaluation indicated her hemoglobin levels were below normal. Other parameters associated with abnormal liver function, inflammation, and less effective blood clotting also were noted.

Genetic testing revealed the presence of disease-related variants in the UROS gene, but no genetic cause for PSVD was identified. The woman also had liver and spleen enlargement, and moderate to severe ascites.

Six months later, she underwent a procedure that involved creating a shunt inside the liver that lowered blood pressure in the portal vein. Two months later, after she continued to have recurrent ascites, she received a liver transplant from an unrelated living donor.

The patient was doing well two months after the transplant and was under evaluation for a stem cell transplant, which can prevent CEP from recurring, or even cure it, according to the researchers.

The team noted that further studies should address the underlying mechanisms driving liver involvement in people with porphyria.