Definition | Causes | Risk Factors | Symptoms | Diagnosis | Treatment | Prevention

Definition

Porphyria is a group of disorders. The all lead to a build up of porphyrins in the body. Porphyrins help to make a part of the red blood cell. However, 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 one or both parents.

Risk Factors

Factors that may increase you chance of porphyria include:

  • 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)

Porphyria attacks may be triggered by:

  • Drugs
  • Infections
  • Alcohol consumption
  • Dieting
  • Smoking
  • Stress

Symptoms

Some types of porphyria start in early childhood, some at puberty, and others during adulthood. Attacks may be separated by long periods of time.

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.

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:

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 thickens and scars
  • Skin color changes
  • Red, pink, or brown urine particularly after sun exposure

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

This form is extremely rare.

Symptoms may include:

  • Reddish urine, in infancy
  • Sun sensitivity, beginning in early infancy
  • Sun-exposed skin is fragile and may have blisters
  • Blisters open and are prone to infection
  • Skin color may change
  • Skin thickens
  • Nail changes, ridging, or absence of nail
  • Reddish-brown teeth

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 missing enzyme. 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.

Additional treatment depends on the type of porphyria:

You may need to be hospitalized during an attack. Your doctor will work with you to determine what set off 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:

  • Withdrawal or replacement of 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

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

Primary 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.

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

Prevention

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