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Diagnostic Delay in Erythropoietic Protoporphyria.
Sajel M Lala1, Hetanshi Naik1, Manisha Balwani1
1Department of Genetics and Genomic Sciences, Icahn School of Medicine at Mount Sinai, New York, NY.
The Journal of Pediatrics
|July 26, 2018
Summary
Erythropoietic protoporphyria causes severe sun-induced pain in children. Delayed diagnosis is common due to low pediatrician awareness, impacting patient care.
Area of Science:
- Dermatology
- Genetics
- Pediatrics
Background:
- Erythropoietic protoporphyria (EPP) is an inherited disorder.
- It causes severe pain upon sun exposure, often starting in childhood.
- Diagnostic delays are frequent due to limited awareness.
Observation:
- This study details the diagnostic journey of two children with EPP.
- A survey of 129 individuals with EPP was conducted.
- The survey aimed to understand the experiences of affected individuals.
Findings:
- EPP diagnosis is often delayed, highlighting a gap in pediatrician knowledge.
- The diagnostic odyssey can be prolonged and distressing for patients.
- Survey results underscore the need for increased awareness and education.
Implications:
- Improved awareness among healthcare professionals can expedite EPP diagnosis.
- Earlier diagnosis leads to better management and quality of life for affected children.
- Further research is needed to understand the full impact of EPP on patients.
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