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(E80.0) Hereditary erythropoietic porphyria
More details coming soon
484 961 in individuals diagnosis hereditary erythropoietic porphyria confirmed
2 087 deaths with diagnosis hereditary erythropoietic porphyria
Diagnosis hereditary erythropoietic porphyria is diagnosed Men are 12.73% more likely than Women
273 360
Men receive the diagnosis hereditary erythropoietic porphyria
1 076 (0.4 %)Died from this diagnosis.
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211 601
Women receive the diagnosis hereditary erythropoietic porphyria
1 011 (0.5 %)Died from this diagnosis.
Risk Group for the Disease hereditary erythropoietic porphyria - Men and Women aged 0
In Men diagnosis is most often set at age 0-94
Less common in men the disease occurs at Age 95+Less common in women the disease occurs at Age 95+
In Women diagnosis is most often set at age 0-94
Disease Features hereditary erythropoietic porphyria
Absence or low individual and public risk
Hereditary erythropoietic porphyria - what does this mean
Hereditary erythropoietic porphyria is an inherited disorder caused by a deficiency in the enzyme uroporphyrinogen iii synthase, resulting in an accumulation of porphyrins in the body. this leads to a variety of symptoms including skin photosensitivity, abdominal pain, and neurological symptoms.
What happens during the disease - hereditary erythropoietic porphyria
Hereditary erythropoietic porphyria is caused by a mutation in the delta-aminolevulinic acid dehydratase (alad) gene, which results in a deficiency of the enzyme delta-aminolevulinic acid dehydratase. this enzyme is responsible for the conversion of delta-aminolevulinic acid to porphobilinogen, which is an essential step in the production of heme. without this enzyme, the body is unable to produce heme, leading to a buildup of porphyrin molecules in the body that can cause a range of symptoms, including skin lesions, abdominal pain, and photosensitivity.
Clinical Pattern
More details coming soon
How does a doctor diagnose
- Complete physical examination
- Comprehensive blood tests
- Urine tests
- Genetic testing
- Stool tests
- Imaging tests such as MRI or CT scan
- Skin biopsy
- Liver biopsy
Treatment and Medical Assistance
Main goal of the treatment: To reduce the symptoms of Hereditary Erythropoietic Porphyria.
- Regular monitoring of blood pressure, pulse, and urine tests
- Frequent blood transfusions
- Regular blood tests to monitor iron levels
- Medication to reduce the production of porphyrins
- Avoidance of drugs that may trigger symptoms
- Protection from sunlight
- Regular monitoring of liver, kidney, and bone marrow function
- Surgery to remove the spleen
- Gene therapy
- Regular exercise
- Stress management
9 Days of Hospitalization Required
Average Time for Outpatient Care Not Established
Hereditary erythropoietic porphyria - Prevention
Hereditary erythropoietic porphyria can be prevented by avoiding environmental triggers such as exposure to sunlight, certain medications, and alcohol, as well as maintaining a healthy diet and lifestyle. genetic counseling is also recommended for those with a family history of the condition.