porphyria diagnosed
Porphyria, also known as “vampire disease,” is diagnosed through special tests, such as blood tests, fecal tests and urine tests, to look for excessive levels of porphyrin in the body.

Also known as “vampire disease” because of its ability to cause extreme photosensitivity, porphyria is a rare, hereditary condition that affects fewer than 200,000 people in the United States. It is characterized by excessive levels of porphyrin in the blood. Porphyrin is formed from heme, which is a component of hemoglobin that gives the blood its red color. Hemoglobin helps transport oxygen to all cells of your body.

Symptoms of porphyria are also commonly seen in many other diseases. Hence, diagnosing it requires many special tests, which include blood tests, fecal tests and urine tests to look for porphyrin and other related substances. Genetic tests (deoxyribonucleic acid [DNA] test) are also a confirmatory blood test that looks for the genetic mutation responsible for porphyria.

What are the signs and symptoms of porphyria?

Signs and symptoms of porphyria depend on the type of the condition, whether it is acute or cutaneous porphyria.

Acute porphyria

Acute porphyria affects the nervous system. Symptoms appear quickly in the form of episodes and can last for a few days to weeks.

The most common subtype is acute intermittent porphyria, and its symptoms include:

Cutaneous porphyria

Cutaneous porphyria is the type that affects the skin. The most common type is porphyria cutanea tarda (PCT), which may not be hereditary.

Signs and symptoms are responses of the skin exposed to sunlight and include:

  • Itching of the skin
  • Edema or redness of the skin
  • Erosions or abrasions
  • Blisters
  • Scarring of the skin exposed to the sun

What factors can trigger porphyria?

Porphyria is a chronic condition that comes in episodes. This means you may get symptoms suddenly that disappear after some time and then come back again.

Certain factors trigger porphyria attacks, which include:

How do doctors treat porphyria?

Porphyria is a chronic illness, and you have to live with it for a lifetime. Treatment of the condition differs as per the type. It involves avoiding triggering factors, providing symptomatic relief and reducing the severity of the condition.

Treatment for acute porphyria

Treatment aims to provide fast relief from symptoms and avoid complications.

  • Hemin injections: It is a form of heme that helps limit the production of porphyrins in the body.
  • Intravenous or oral glucose: This helps maintain a sufficient amount of carbohydrates in the body.

Hospitalization may be needed in complications such as severe pain or difficulty breathing.

Sometimes, invasive treatments may be needed to manage symptoms, with treatment options such as:

  • Blood transfusions
  • Surgery to remove the spleen and liver
  • Bone marrow transplantation

A person may need to sustain a high-carbohydrate diet to help with the symptoms.

Treatment for cutaneous porphyria

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Medically Reviewed on 8/17/2021
References
Porphyria. https://my.clevelandclinic.org/health/diseases/17760-porphyria

Porphyria. https://emedicine.medscape.com/article/1389981-overview