Boy’s congenital erythropoietic porphyria diagnosis takes years
Medical odyssey highlights importance of timely recognition of CEP: Report
A boy’s long medical odyssey, which eventually led to a diagnosis of congenital erythropoietic porphyria (CEP) but left the child with long-term disabilities, demonstrates the need for timely recognition of this rare form of porphyria, per a report from India.
“This case report illustrates the complex and challenging journey of a boy in early adolescence with severe CEP symptoms, highlighting the profound impact of delayed recognition and management,” the researchers wrote.
The child was left with significant scarring and amputations, with a “patient’s perspective” notation in the report that “I don’t have much hopes for this child now.”
According to the researchers, “this case underscores the critical need for heightened clinical awareness, multidisciplinary care and genetic [counseling] to [optimize] outcomes and provide holistic support for affected individuals and their families.”
The study, “Congenital erythropoietic porphyria: the overlooked inherited disorder,” was published in the journal BMJ Case Reports.
Congenital erythropoietic porphyria is rarest disease type
Porphyrias are a group of genetic disorders marked by problems with the production of heme, a molecule that’s required for oxygen transport in the bloodstream. As a result of impaired heme production, intermediary molecules called porphyrins and their precursors build up to toxic levels in the body, causing damage to tissues and organs.
CEP is the rarest form of porphyria, and also one of the most severe. It is usually marked by severe photosensitivity, or skin damage caused by sunlight exposure, and hemolytic anemia, which is anemia driven by the destruction of red blood cells.
In this report, researchers from the All India Institute of Medical Sciences detailed the case of a boy in his early teens who was diagnosed with CEP after a lengthy healthcare journey.
The boy first began to show signs of skin damage when he was 2. At that time, he also had reddish urine, which is a hallmark sign of porphyria, but this wasn’t recognized by his doctors.
As he grew, the boy experienced substantial damage to the skin on his face, hands, and feet. As tissue damage became increasingly severe, his fingers and toes grew shorter, and he ultimately lost many digits. The boy’s sister, who had died from severe anemia in early childhood, had experienced similar symptoms, suggesting that the boy’s condition was genetic. Doctors, however, were unable to pinpoint the cause.
“My child was healthy until the age of [2] when rash appeared on his face,” the perspective part of the report said. “Initially, we thought it would resolve on its own, but it gradually worsened, leading to ulcers, vision problems, a whitish appearance of the eyes, difficulty in walking, and shortening of fingers and toes. Despite consulting many doctors, no proper diagnosis was made and no treatment was started.”
Researchers note early diagnosis could have led to better treatment
After failing to get an answer from many doctors over the course of the boy’s childhood, he finally was evaluated by the institute’s specialists.
Among the results, lab tests showed high levels of porphyrins in the urine and signs of hemolytic anemia. These results, combined with the boy’s clinical symptoms, suggested a diagnosis of CEP.
Timely recognition is crucial to reduce complications and long-term disabilities [in CEP].
CEP is usually caused by mutations in the UROS gene, which provides instructions to make an enzyme called uroporphyrinogen III synthase that’s required for heme production. The researchers noted that genetic and/or enzyme tests would normally be used to definitively confirm the diagnosis, but such testing was not possible in this case due to logistical issues.
After the diagnosis, the boy’s family was given counseling to limit sun exposure, which has helped to halt further skin damage, per the report. The boy was referred for a bone marrow transplant, which can cure CEP by enabling the body to produce red blood cells that do not carry the disease-causing mutation. However, the child has not yet been able to undergo the transplant due to financial constraints. At present, the boy’s condition is being managed with sunlight avoidance and regular red blood cell transfusions.
Had the child’s condition been diagnosed earlier, the researchers noted, his family may have been able to get more effective guidance and treatment earlier, might have limited some of the disease’s long-term effects.
In a “learning point,” the researchers stressed the need for early diagnosis, noting that “timely recognition is crucial to reduce complications and long-term disabilities” in CEP.
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