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(E80.2) Other porphyria
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484 961 in individuals diagnosis other porphyria confirmed
2 087 deaths with diagnosis other porphyria
Diagnosis other porphyria is diagnosed Men are 12.73% more likely than Women
273 360
Men receive the diagnosis other porphyria
1 076 (0.4 %)Died from this diagnosis.
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211 601
Women receive the diagnosis other porphyria
1 011 (0.5 %)Died from this diagnosis.
Risk Group for the Disease other 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 other porphyria
Absence or low individual and public risk
Other porphyria - what does this mean
Other porphyria is a group of rare metabolic disorders caused by a deficiency of enzymes in the heme biosynthesis pathway. this leads to an accumulation of porphyrins and their precursors in the body, resulting in a variety of symptoms including abdominal pain, vomiting, constipation, photosensitivity, neurological problems, and psychological disturbances.
What happens during the disease - other porphyria
Other porphyria is a group of rare inherited disorders caused by a deficiency in the production of heme, an essential component of hemoglobin. this deficiency results in an accumulation of porphyrins, which are toxic to the body’s cells and can cause a wide range of symptoms, including skin issues, abdominal pain, neurological problems, and mental health issues. in some cases, exposure to certain drugs, alcohol, or other environmental triggers can exacerbate the symptoms.
Clinical Pattern
More details coming soon
How does a doctor diagnose
- Complete physical examination
- Blood tests to measure levels of enzymes and proteins in the body
- Urine tests to measure levels of porphyrins in the body
- Genetic testing to detect mutations in the genes responsible for porphyria
- Skin tests to check for sensitivity to light
- Liver biopsy to examine the health of the liver
- Imaging tests such as X-rays, CT scans, and MRI scans to check for any abnormalities in the body
- Enzyme assays to measure the activity of enzymes in the body
- Stool tests to measure levels of porphyrins in the stool
Treatment and Medical Assistance
Main Goal: Treating Other Porphyria
- Prescribing medications to reduce the severity of symptoms
- Providing dietary advice and nutritional supplements
- Recommending lifestyle changes to reduce stress and avoid triggers
- Monitoring for signs and symptoms of the condition
- Administering blood transfusions to reduce the amount of porphyrins in the body
- Administering medications to reduce the amount of porphyrins in the body
- Prescribing therapies to reduce pain and other symptoms
- Referring patients to specialists for further evaluation and treatment
9 Days of Hospitalization Required
Average Time for Outpatient Care Not Established
Other porphyria - Prevention
Other porphyria can be prevented by avoiding exposure to sunlight, certain drugs, and alcohol, as well as eating a balanced diet and getting regular exercise. additionally, individuals should seek medical advice if they have any symptoms, as early diagnosis and treatment can be beneficial.