Porphyria is a group of at least eight diseases caused by abnormalities in the chemical steps that lead to heme production. Found mostly in the blood, bone marrow, and liver, heme is a vital molecule for all of the body's organs. Heme is a component of hemoglobin, the molecule that carries oxygen in the blood. Genetic changes are related to the following types of porphyria. acute intermittent porphyria ALAD deficiency porphyria congenital erythropoietic porphyria erythropoietic protoporphyria hepatoerythropoietic porphyria hereditary coproporphyria porphyria cutanea tarda variegate porphyria The signs and symptoms of porphyria vary among types. Some types of porphyria (called cutaneous porphyrias) cause the skin to become overly sensitive to sunlight. Areas that are exposed to the sun develop redness, blistering, and often scarring. The clinical features of other types of porphyria (called acute porphyrias) affect the nervous system. Appearing quickly and lasting from days to weeks, these signs and symptoms include chest and abdominal pain, emotional and mental disorders, seizures, and muscle weakness. Some porphyrias have a combination of acute symptoms and symptoms that affect the skin. Environmental factors can strongly influence the occurrence and severity of signs and symptoms in some types of porphyria. Alcohol, smoking, certain drugs, hormones, exposure to sunlight, stress, and dieting or fasting can all trigger the signs and symptoms of the disorder.

GoldBamboo

... Porphyria is a group of at least eight diseases caused by abnormalities in the chemical steps that lead to heme production. Found mostly in the blood, bone marrow, and liver, heme is a vital molecule for all of the body's organs. Heme is a component of hemoglobin, the molecule that carries oxygen in the blood.

Genetic changes are related to the following types of porphyria.

  • acute intermittent porphyria
  • ALAD deficiency porphyria
  • congenital erythropoietic porphyria
  • erythropoietic protoporphyria
  • hepatoerythropoietic porphyria
  • hereditary coproporphyria
  • porphyria cutanea tarda
  • variegate porphyria

The signs and symptoms of porphyria vary among types. Some types of porphyria (called cutaneous porphyrias) cause the skin to become overly sensitive to sunlight. Areas that are exposed to the sun develop redness, blistering, and often scarring. The clinical features of other types of porphyria (called acute porphyrias) affect the nervous system. Appearing quickly and lasting from days to weeks, these signs and symptoms include chest and abdominal pain, emotional and mental disorders, seizures, and muscle weakness. Some porphyrias have a combination of acute symptoms and symptoms that affect the skin.

Environmental factors can strongly influence the occurrence and severity of signs and symptoms in some types of porphyria. Alcohol, smoking, certain drugs, hormones, exposure to sunlight, stress, and dieting or fasting can all trigger the signs and symptoms of the disorder. ...

Genetics Home Reference - more...

... Acute intermittent porphyria is probably the most common porphyria with acute (severe but usually not long-lasting) symptoms. The disorder results from low levels of the enzyme responsible for the third step in heme production. Heme is a vital molecule for all of the body's organs. It is a component of hemoglobin, the molecule that carries oxygen in the blood.

Acute intermittent porphyria is a subtype of porphyria.

About 80 percent of people with reduced enzyme activity never experience signs or symptoms of acute intermittent porphyria, and others may have only one or a few acute attacks during their lives. When symptoms occur, they are the most severe of any type of porphyria. Acute attacks cause abdominal pain, vomiting, diarrhea, and constipation. During an attack, a person may also experience muscle weakness, seizures, and mental changes such as anxiety and hallucinations. These symptoms can be life-threatening in rare cases. Attacks are triggered by nongenetic factors such as certain drugs, alcohol, smoking, dieting or fasting, certain hormones, other illnesses, and stress.

In addition to acute attacks, people with acute intermittent porphyria are at an increased risk of developing abnormal liver function and liver cancer. ...

Genetics Home Reference - more...

This article is about the disease. For the poem by Robert Browning see Po ...
Wikipedia - [full article]

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Porphyria Other

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Porphyria
... Porphyria is a group of different disorders caused by abnormalities in the chemical steps leading to the production of heme, a substance that is important in the body. The largest amounts of heme are ...
Source: Cleveland Clinic

Porphyria
... Porphyria is a group of different disorders caused by abnormalities in the chemical steps leading to the production of heme, a substance that is important in the body. The largest amounts of heme are ...
Source: National Institute of Diabetes and Digestive and Kidney Diseases

   

Porphyria Articles

  • Acute intermittent porphyria
    ... Acute intermittent porphyria is probably the most common porphyria with acute (severe but usually not long-lasting) symptoms. The disorder results from low levels of the enzyme responsible for the thi...
  • ALAD deficiency porphyria
    ... ALAD deficiency porphyria is a very rare type of porphyria. The disorder results from low levels of the enzyme responsible for the second step in heme production. Heme is a vital molecule for all of t...
  • Congenital erythropoietic porphyria
    ... Congenital erythropoietic porphyria is a rare type of porphyria that mainly affects the skin. The disorder results from low levels of the enzyme responsible for the fourth step in heme production. Hem...
  • Erythropoietic protoporphyria
    ... Erythropoietic protoporphyria is an uncommon type of porphyria that mainly affects the skin. The disorder results from reduced levels of the enzyme responsible for the eighth and final step in heme pr...
  • Hepatoerythropoietic porphyria
    ... Hepatoerythropoietic porphyria is a rare type of porphyria that mainly affects the skin. The disorder results from very low levels of the enzyme responsible for the fifth step in heme production. Heme...
  • Hereditary coproporphyria
    ... Hereditary coproporphyria is a rare type of porphyria that can have acute (severe but usually not long-lasting) symptoms along with symptoms that affect the skin. The disorder results from low levels ...
  • Porphyria
    ... Porphyria is a group of different disorders caused by abnormalities in the chemical steps leading to the production of heme, a substance that is important in the body. The largest amounts of heme are ...
  • Porphyria
    ... Porphyria is a group of at least eight diseases caused by abnormalities in the chemical steps that lead to heme production. Found mostly in the blood, bone marrow, and liver, heme is a vital molecule ...
  • Variegate porphyria
    ... Variegate porphyria is a type of porphyria that can have acute (severe but usually not long-lasting) symptoms along with symptoms that affect the skin. The disorder results from low levels of the enzy...

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