Definition

The term porphyria refers to a group of disorders. They do differ in some ways, but all share the same problem. They all have a build up of porphyrins in the body. Porphyrins help to make heme a part of the red blood cell. However, a build up of the porphyrins in the body cause damage. 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

Some types of porphyria start in early childhood, some at puberty, and others during adulthood. Attacks may be separated by long periods of time. The attacks can be triggered by drugs, infections, alcohol consumption, and dieting.

Causes

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

Risk Factors

Factors that may increase you chance of porphyria:

  • Having a family member with this disease—most common risk
  • Caucasians are at greater risk than Blacks or Asians
  • Sex: female (related to the menstrual cycle)
  • Most onsets happen between age 20-40

Symptoms

Porphyria can cause skin or nervous system problems. Urine from some may be reddish in color. This is due to the presence of excess porphyrins. The urine may darken after standing in the light. Specific symptoms depend on the type.

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 of future attacks resemble the initial episode and may include:

Porphyria Cutanea Tarda (PCT)

This is the most common porphyria. Most are not inherited. They are acquired at some point.

Symptoms may include:

  • Sun sensitivity
  • Sun-exposed skin is fragile
  • Minor injury may damage the skin
  • Blisters on the face, hands, arms, feet, and legs
  • Skin heals slowly
  • Skin susceptible to infection
  • Skin thickens and scars
  • Skin color changes
  • Excess hair growth
  • Reddish urine in infancy or childhood

Erythropoietic Protoporphyria (EPP)

Symptoms may include:

  • Sun sensitivity
  • Redness or swelling, but usually no blisters
  • Itching or burning sensation
  • Long-term skin and nail changes
  • Gallstones

Congenital Erythropoietic Protoporphyria (CEP)

This form is extremely rare.

Symptoms may include:

  • Reddish urine, in infancy
  • Sun sensitivity, beginning in early infancy
  • Sun-exposed skin is fragile
  • Blisters on sun-exposed skin
  • Blisters open and are prone to infection
  • Skin color may change
  • Skin thickens
  • Excess hair growth
  • Scarring
  • Reddish-brown teeth
  • Enlarged spleen
  • Hemolytic anemia

Diagnosis

The doctor will ask about any symptoms. A medical and family history will be taken. A physical exam will also be done.

The symptoms can be very vague. As a result, the diagnosis is often delayed.

Tests differ for the various types. They may include blood, urine, and/or stool tests. These tests check for excess porphyrin or a specific enzyme deficiency. In some cases specific genetic testing may be available as well.

Treatment

For all types of porphyria, treatment includes the following:

  • Avoiding known triggers and drugs that can precipitate an attack
  • Eating a high-carbohydrate diet

Porphyria that affects the skin require special attention to protect the skin from injury and/or infection.

Specific treatment depends on the type of porphyria.

Acute Intermittent Porphyria

You may need to be hospitalized during an attack. In the hospital, you may be given the following:

  • Heme by vein (intravenous) in the form of hematin, heme albumin, or heme arginate
  • Glucose by vein
  • Drugs to control symptoms such as pain, nausea, anxiety, and insomnia

Porphyria Cutanea Tarda

Treatment may include:

  • Blood removal weekly to monthly
  • Low doses of antimalarial drugs, such as:
  • Radiology imaging to monitor for increased risk of liver cancer

Erythropoietic Protoporphyria

Treatment may include:

  • Oral beta-carotene
  • Maintaining normal iron levels with food or supplements
  • Medication to aid excretion of porphyrins in stool, such as:
    • Activated charcoal
    • Cholestyramine
    • Blood transfusions
    • Heme by vein in the form of hematin, heme albumin, or heme arginate
    • Splenectomy —removal of the spleen

Congenital Erythropoietic Protoporphyria

Treatment may include:

  • Oral beta-carotene
  • Oral charcoal, to aid excretion of porphyrins in stool
  • Blood transfusions
  • Splenectomy —removal of the spleen
  • Bone marrow transplantation

Prevention

Genetic testing may identify people at risk for porphyria. If there are people in your family with the diagnosis of porphyria, you may be eligible for testing. If the family member has had a test that showed DNA changes, that change can be looked for in you.

A genetic counselor can review your family history. The counselor will help find the risks for this disorder in you and your offspring. They will also discuss appropriate testing for you.

Genetic mutation cannot be corrected. However, attacks can be anticipated, prevented, or controlled. Steps to avoid porphyria attacks and complications include the following:

  • Protect skin from injury or infection
  • Avoid drugs and other triggers

Triggers for porphyria include:

Acute Intermittent Porphyria

  • 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

Porphyria Cutanea Tarda

  • Iron
  • Alcohol
  • Estrogens
  • Hydrocarbons
  • Certain pesticides or chemicals

Erythropoietic Protoporphyria

  • Sunlight
  • Weight-loss diets or fasting

Congenital Erythropoietic Protoporphyria

  • Sunlight