Outcomes for children with CEP improved in recent decades: Study
More widespread genetic tests have helped with timely diagnosis, treatment
Outcomes for children with congenital erythropoietic porphyria (CEP) have improved over the last few decades, and babies with CEP today are more likely to receive treatment that can improve their survival.
That’s according to findings from a study, “Severe Perinatal Presentations of Günther’s Disease: Series of 20 Cases and Perspectives,” published in the journal Life.
CEP, also known as Günther disease, is the rarest type of porphyria. It is mainly caused by mutations in the UROS gene, and is marked by symptoms involving the skin, as well as red blood cell destruction that may cause serious health problems in the perinatal period, which refers to the period at or near the time of birth.
Short-term treatment of CEP usually involves blood transfusions to provide the body with healthy blood cells, while the main long-term treatment is a hematopoietic stem cell transplant (HSCT).
HSCT replaces blood stem cells in bone marrow with donated cells
Sometimes referred to simply as a stem cell transplant, a HSCT is a procedure that aims to replace blood stem cells in the bone marrow with new ones from a donor. The donor stem cells can then give rise to a steady supply of healthy blood cells, which can substantially alleviate CEP symptoms and potentially even cure the disorder.
In this study, scientists in France reviewed data for all cases of genetically confirmed perinatal CEP that were documented by the French Center for Porphyria between 1990 and 2021.
Over the more than three decades studied, 20 cases of CEP were identified. The researchers classified the 20 patients into three groups, based on how their clinical course played out.
The most recent cases in this series are remarkable, with better outcomes than expected.
Seven patients were classified as having an antenatal presentation, meaning health problems were evident while the fetus was developing in the womb. These issues included hydrops fetalis, in which there is an unusual buildup of fluid around the fetus, an enlargement of the liver and spleen, anemia, and malformations. In most of these cases, the fetuses did not survive to birth, and the diagnosis of CEP was made only in retrospect after lab tests were conducted.
Another five patients were classified as having an acute neonatal presentation, meaning problems may not have been detected before birth, but they were apparent at the time of birth. All five had symptoms that included difficulty breathing, bleeding, and liver dysfunction. Three of the babies died soon after birth, but the other two survived until they were able to receive a HSCT.
Stem cell transplant successful in six children with post-natal symptoms of CEP
The remaining eight patients, classified as having a post-natal presentation, didn’t have any obvious signs of CEP when they were born, but as they grew, they started showing signs of the disease, such as skin reactions to sunlight (photosensitivity), anemia, and teeth and urine discoloration. These children were diagnosed between 6 and 18 months of age, and all of them were able to undergo a stem cell transplant. The transplant was successful in six of them, but led to fatal complications in two children.
The researchers highlighted that, across all three classifications, diagnoses were generally made earlier and positive outcomes from HSCT were more likely in patients who were born more recently.
“The most recent cases in this series are remarkable, with better outcomes than expected,” the scientists wrote.
This finding underscores that, although there’s still a long way to go in the fight against CEP, real progress has been made in recent decades. The scientists noted that CEP care has been improved by more widespread availability of genetic tests to confirm its diagnosis.
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