Porphyria Symptoms, Causes and treatment

Porphyria is a disease related to groups of disorder that affected to nervous systems or skin. The most common problems of all phorphyria are the body cumulated porphyrins or porphyrin precursors, these chemicals are usually not cumulated. In general, depending on what type of phorphyria will build up what’s chemical.

The Symptoms of Phorphyria

  • Buring
  • Blister
  • Scar of sun expose
  • Pain in the back, arms and legs
  • Redish color in urine or/and urine retention
    Nausea
  • Vomiting
  • Confusion, hallucinations and seizures
  • Constipation
  •  Muscle weakness
  • Liver function abnormalities.

The Causes of Phorphyria

There are about 8 types of phorphyria, and the causes will be different for each type.

  • Acute Intermittent Porphyria (AIP): caused by The deficient enzyme is porphobilinogen deaminase (PBGD), also known as hydroxymethylbilane synthase. These are others  factors may be activating the problems such as change in hormones, drugs, and diets.
  • Congenital Erythropoietic Porphyria (CEP): caused by deficiency of uroporphyrinogen III cosynthase. Porphyrins are increased significantly in bone marrow, red blood cells, plasma, urine, feces, the teeth and bones. Most of the problems occur during infancy.
  • Porphyria Cutanea Tarda (PCT): Caused by deficiency of uroporphyrinogen decarboxylase (UROD). Most people have this problems show no symptoms, but when disease are triggered by these factors such as iron, alcohol, hepatitis C virus (HCV), HIV, estrogens, PCT will be active. Porphyrine will build up Large amounts of porphyrins in the liver.
  • ALAD Porphyria (ADP): caused by deficiency of the enzyme delta-aminolevulinic acid dehydratase (ALAD). This disease is very rare.
  • Hepatoerythropoietic Porphyria (HEP): Caused by deficiency of uroporphyrinogen decarboxylase. Porphyrins build up in liver, plasma, urine, feces, in bone marrow and red blood cells.
  • Hereditary Coproporphyria (HCP): caused by deficiency of coproporphyrinogen oxidase.
  • Variegate Porphyria (VP): caused by deficiency of protoporphyrinogen oxidase.
  • Erythropoietic Protoporphyria (EPP) or Protoporphyria: caused by abnormally elevated levels of protoporphyrin IX in erythrocytes (red blood cells), feces and plasma (the fluid portion of circulating blood). The porphyrins build up in bone marrow, red blood cells and sometimes the liver.

The Treatment of phorphyria

The best treatment will be consulted by your physician to decide what the main cause of the disease is. Here some of the options are available.

  • Patient with EPP: should avoid sunlight according to their personal sensitivity. Taking some products that contain Lumitene/Beta-Carotene for treatment, it can be found in green plant. Access of vitamins A and D can cause serious health issues. the patient should consume the foods are rich iron such as red meat, spinach, baked potato with skin, red kidney beans, raisins, etc.
  • Patient with AIP: most of the patient is attacked by low intake of glucose and carbohydrates with weight loss purpose. Medication for pain, nausea and vomiting are needed. A high intake of glucose or other carbohydrates are recommended.
  • Patient with CEP: removing the spleen, blood transfusion, Bone Marrow Transplantation may reduce the porphyrines. In some case, taking Activated charcoal by mouth will help as well.
  • Patient with PCT: repeated a schedule to the removal of blood (phlebotomies) to reduce amount of iron in the liver.

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