Standard treatment efficacy poor in CEP over 5 years, case study shows

Armenian man, now 27, has worse symptoms despite preventive measures

Steve Bryson, PhD avatar

by Steve Bryson, PhD |

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before birth | Porphyria News | congenital erythropoietic porphyria | illustration of one person highlighted in red amid a large crowd of bodies

Five years of standard treatment did not slow the progression of congenital erythropoietic porphyria (CEP) — the rarest type of porphyria, marked by severe light sensitivity — in a young man in Armenia, according to a study on the first reported case of the condition in that country.

For the patient, now age 27, the lack of treatment efficacy has led to increasing damage to his skin, and worsening deformity of his nose and ears.

“The five years of follow-up have revealed worsening symptomatology despite preventative measures and demonstrate that standard recommendations did not alleviate the patient’s deteriorating conditions,” the researchers wrote.

Details of the case were reported in “Congenital erythropoietic porphyria five years observation with standard treatment: a case report,” published in the journal Oxford Medical Case Reports.

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CEP, also known as Günther disease, is the most rare type of the group of genetic disorders known as porphyria, which are caused by disruptions in the production of heme — an essential molecule that helps transport oxygen in the body. As a result of these disruptions, porphyrins and their precursors accumulate to toxic levels and cause tissue damage.

Most often seen in infancy, CEP is marked by severe light sensitivity and infections that can lead to the loss of fingers and disfiguring facial features. This type of the disease is caused by mutations in either the UROS or GATA1 genes, which result in a deficiency in one of the enzymes involved in heme production.

With an estimated 250 cases reported worldwide, CEP affects males and females equally, with no apparent ethnic predisposition.

Now, researchers at the Yerevan State Medical University, in Armenia, have described the first case of CEP in that country.

The man, who was 22 at the start of the case study, was born with excessive hair growth, disfigured fingers and ears, and pinkish-colored urine. At age 7, he developed a rash on his face and upper extremities after being exposed to sunlight while playing outdoors. That marked the onset of the disease.

He was admitted to a local hospital and given a red blood cell transfusion. He was then followed by various dermatology clinics for his rash through childhood and adolescence. Due to suspicion that he might have a form of porphyria affecting the skin, he was suspended from military service.

When he was examined at a hematology center for blood disorders, infected fluid-filled blisters were found on his face and hands, with disfigurement of his index fingers and the bridge of his nose. He also was noted to have discolored gums, excessive hair growth, and an enlarged spleen. Further, the man disclosed having a history of red urine and feces.

Based on these findings, two types of porphyria were suspected: CEP and hepatoerythropoietic porphyria (HEP), which is caused by mutations in the UROD gene.

With the risk of further deterioration of his condition, intervention with [a stem cell transplant] remains a feasible and curative treatment option.

Blood tests showed he was anemic, as indicated by lower than normal levels of hemoglobin — the protein that carries oxygen in red blood cells — and elevated reticulocytes, or immature red blood cells. An ultrasound confirmed his spleen was enlarged.

CEP was confirmed following porphyrin screening in red blood cells, urine, blood, and feces. These tests showed elevated levels of those molecules, coupled with another test showing unusually low activity of the UROS enzyme.

He underwent various supportive treatments, including sunscreens, antibiotics, vitamin D supplementation, and phlebotomy, or therapeutic bloodletting. His blisters healed after 10 days of antibiotic treatment. However, due to intolerance to repeated phlebotomy, he refused further treatment. A stem cell transplant was suggested as a curative option, but was also refused.

Over five years of follow-up, the patient’s condition continued to deteriorate, such that his index and middle finger were amputated. The destruction and deformation of his nose bridge, nostrils, and ears also continued to worsen due to the lack of treatment efficacy.

At the time of the report, a stem cell transplant was “under strong consideration.”

“With the risk of further deterioration of his condition, intervention with [a stem cell transplant] remains a feasible and curative treatment option,” the researchers wrote.