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
  • Diagnosis

    You will be asked about your symptoms. A medical and family history will be taken. A physical exam will also be done.

    Your bodily fluids and waste may be tested. This can be done with:

  • Blood tests
  • Urine tests
  • Stool tests
  • Treatment

    For all types of porphyria, treatment includes the following:

  • Avoiding known triggers and drugs
  • Eating a high-carbohydrate diet
  • IV glucose
  • Medication, if glucose therapy is not effective
  • Porphyria that affects the skin requires special attention to protect the skin from injury and/or infection.

    Additional treatment depends on the type of porphyria:

    Acute Intermittent Porphyria

    You may need to be hospitalized during an attack. Your doctor will work with you to determine what triggered the attack. Common triggers include:

  • Drugs, such as:     
  • Barbiturates
  • Sulfa drugs
  • Seizure drugs
  • Steroid hormones such as:     
  • Estrogen
  • Progesterone
  • Hormonal changes related to the menstrual cycle
  • Weight-loss diets or fasting
  • Infections
  • Alcohol
  • Stress
  • Surgery
  • Cigarette smoke
  • Treatment for acute intermittent porphyria may include:

  • Stopping or substituting any medication suspected to be the cause
  • Medication to reduce symptoms
  • Glucose delivered by IV
  • Monitoring and treatment for side effects like heart problems, breathing difficulties, and seizures
  • Porphyria Cutanea Tarda

    Your doctor may need to identify the triggers. Common triggers include:

  • Iron
  • Alcohol
  • Estrogens
  • Hydrocarbons
  • Certain pesticides or chemicals
  • Treatment of porphyria cutanea tarda may include:

  • Avoiding:     
  • Sun exposure
  • Alcohol consumption
  • Iron supplement and iron rich foods
  • Blood removal weekly to monthly to reduce porphyrins in blood
  • Low doses of antimalarial drugs may reduce symptoms in some
  • Annual doctor visits for liver monitoring
  • Erythropoietic Protoporphyria

    The primary treatment step is to avoid or limit exposure to sunlight. Other treatment steps may include:

  • Medications to increase light tolerance such as beta-carotene
  • Medication to help remove porphyrins from body
  • Treatment for complications:     
  • Blood transfusion or removal of spleen for anemia
  • Liver transplant
  • Erythropoietic protoporphyria may also be triggered by dieting or fasting. Your doctor will discuss a healthy diet plan.

    Congenital Erythropoietic Protoporphyria

    The primary treatment step is to avoid or limit exposure to sunlight. Other treatment steps may include:

  • Medications to increase light tolerance such as beta-carotene
  • Removal of the spleen to reduce need for blood transfusion for anemia
  • Bone marrow transplantation
  • Prevention

    Genetic testing may identify people at risk for porphyria. If there are people in your family with porphyria, you may be at risk. The counselor will help find the risks for this disorder in you and your offspring.