(E80.0) Hereditary erythropoietic porphyria

More details coming soon

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484 961 in individuals diagnosis hereditary erythropoietic porphyria confirmed
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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.

100
95
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70
65
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55
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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

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In Men diagnosis is most often set at age 0-94
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Less common in men the disease occurs at Age 95+Less common in women the disease occurs at Age 95+
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In Women diagnosis is most often set at age 0-94

Disease Features hereditary erythropoietic porphyria

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Absence or low individual and public risk
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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
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9 Days of Hospitalization Required
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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.

Specified forms of the disease

(G31.0) Circumscribed brain atrophy
(G31.1) Senile degeneration of brain, not elsewhere classified
(G31.2) Degeneration of nervous system due to alcohol
(G31.8) Other specified degenerative diseases of nervous system
(G31.9) Degenerative disease of nervous system, unspecified