Porphyria

Definition

Porphyria is a group of disorders. The disorders lead to a buildup of porphyrins in the body. Porphyrins help to make a part of the red blood cell. Excess amounts of porphyrins can cause damage to your body. It most often affects the nervous system and skin.
Hemoglobin Transporting Oxygen
Hemoglobin - anemia
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Some porphyria disorders include:
  • Acute intermittent porphyria
  • Porphyria cutanea tarda
  • Erythropoietic protoporphyria
  • Congenital erythropoietic protoporphyria—present from birth

Causes

Most types of porphyrias are inherited through genes. They may be passed on by 1 or both parents.

Risk Factors

Caucasians are at greater risk for porphyria. Women are also at increased risk, because porphyria is related to the menstrual cycle. The most common risk of porphyria is having a family member with the disease.Porphyria attacks may be triggered by:
  • Drugs
  • Infections
  • Alcohol consumption
  • Dieting
  • Smoking
  • Stress

Symptoms

Porphyria can cause skin or nervous system problems. Urine may also be reddish in color or darken after standing in the light. Other specific symptoms will depend on the type of porphyria.

Acute Intermittent Porphyria (AIP)

Nervous system symptoms occur most often after puberty. Nerves of the intestines can cause gastrointestinal problems. Attacks can last from days to weeks. Symptoms may include:
  • Abdominal pain and cramping
  • Nausea and vomiting
  • Constipation
  • Pain in limbs, head, neck, or chest
  • Impaired movement
  • Rapid heart rate
  • Breathing problems
  • Seizures
  • Difficulty urinating
  • Mental symptoms such as:
    • Behavioral changes
    • Hallucinations
    • Difficulty sleeping
    • Confusion

Porphyria Cutanea Tarda (PCT)

This is the most common porphyria. Most are not inherited. They are acquired at some point.Symptoms are primarily in the skin and increase with sun exposure. Symptoms may include:
  • Fragile skin—minor injury may damage the skin
  • Blisters on the face, hands, arms, feet, and legs
  • Skin that thickens and scars
  • Skin color changes
  • Red, pink, or brown urine particularly after sun exposure

Erythropoietic Protoporphyria (EPP)

Skin symptoms may occur before or during sun exposure. Symptoms include:
  • Redness or swelling, but usually no blisters
  • Itching or burning sensation
  • Long-term skin and nail changes
Other symptoms may include:
  • Abdominal pain
  • Difficulty sleeping
  • Irritability
  • Nausea
  • Headache
  • Insensitivity to temperature
  • Depressed mood

Congenital Erythropoietic Protoporphyria (CEP)

This form is rare.Symptoms may include:
  • Reddish urine, in infancy
  • Sun sensitivity, beginning in early infancy
  • Blisters that open and are prone to infection
  • Skin color changes
  • Skin thickening
  • Nail changes, ridging, or absence of nail
  • Reddish-brown teeth
  • Excess tears
  • Sensitivity to light
  • Headache
  • Diarrhea or vomiting

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