Porphyria Disease

Porphyria Disease is a group of disorder caused by abnormalities in the chemical steps leading to the production of heme. The cutaneous porphyrias affect the skin while acute porphyrias affect the nervous system. Some type of porphyria caused due to inheriting an abnormal gene from one parent while other types are caused due to inheriting an abnormal gene from each parent. Dr. Schultz discover this porphyria disease first an give name it as porphyria disease.

Porphyria Disease causes to the skin problems and neurological complications. Many enzymes are required for the production of the heme if any one is abnormal then it can not continue then it causes to the porphyria disease.

Types of Porphyria Disease

Hepatic porphyrias

Hepatic porphyrias also known as acute porphyrias. It generally causes to the nervous system. It shows the symptoms like pain in the chest, abdomen, limbs, muscle numbness, tingling, paralysis, vomiting, constipation, and personality changes or mental disorders.

Erythropoietic porphyrias

Erythropoietic porphyrias also known as cutaneous porphyria. It causes to the skin. It shows the symptoms like blisters, itching swelling of their skin when it is exposed to sunlight. In some type of porphyrias heme excreted into the urine shows the color changes after exposure to sunlight to dark reddish or dark brown color.

Causes of Porphyria Disease

• The porphyria caused due to the autosomal recessive inheritance of genes which encodes to the abnormal uroporphyrinogen III synthase enzyme protein.
• It can be caused by drugs.
• The porphyria causes due to the excess heme and porphyria production. Heme is made up of four ring of porphyrin.
• It is caused due to mutation.
• Estrogens and infection with hepatitis C causes to the porphyria disease.
• It also causes due to hormone replacement.
• Excess alcohol drinking is responsible factor for porphyria disease.
• The defective genes are cause to the enzyme which convert porphyrin to heme to abnormal.
• Fasting, sun exposure, smoking are also responsible for cause of porphyria disease.

Symptoms of Porphyria Disease

• Weakness in the arms and legs
• Darkening and thickening of the skin.
• Nausea
• Hair growth on the forehead
• Pain in chest
• Swelling
• Depression
• Necrosis of the skin and gums
• Vomiting
• Mental disorder
• Teeth have reddish color.
• Diarrhea
• hallucinations
• Personality changes
• Abdominal distention
• Itching

Treatment of Porphyria Disease

The diagnosis of porphyria is very difficult because the range of symptoms is very common to many disorders and interpretation of the tests complex. Each form is treated differently.

• The diagnosis of porphyria is done through the spectroscopy and biochemical analysis of blood, urine, and stool.
• Urine screening test has been done to detect the porphyria disease.
• Biochemical tests are used to identify the kidney disease.
• Acute porphyria treated with intravenous glucose injections, special high glucose drinks and heme medications like Panhematin.
• The antioxidant beta carotene s used to reduce the tissue damage from the exposure of the chemical reaction which help to reduce the symptoms of cutaneous porphyria.
• Hormonal treatment is done in women having porphyria disease.
• Porphyria seizures treatments are used to cure some symptoms.
• Take high-carbohydrate diet to cure porphyria.
• Avoiding overexposure to the sunlight.
• Some different medications can be used in the treatment of Porphyria which consist of chlorpromazine, chlorpromanyl, largactil, novochlorpromazine, ormazine, thora-Dex, thorazine, thorazine SR etc.
  

Prevention of Porphyria Disease

• Avoid sunlight go out only at night.
• Avoid fasting.
• .Avoid consumption of wine, beer and alcoholic substances.
• Avoid dehydration.
• Avoid iron supplements and vitamins containing iron

Prognosis of Porphyria Disease

Normal life span possible in many cases of the porphyria. Limited treatments are available. Prognosis is not poor. Avoidance of sunlight scarring and mutation minimize.

People who suffered from Porphyria Disease?

• The poet Robert Browning.
• King George III.
• King Nebuchadnezzar of Babylon.

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