by Wood D

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
Copyright © Nucleus Medical Media, Inc.
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

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:
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.

RESOURCES

American Liver Foundation http://www.liverfoundation.org

National Institute of Diabetes and Digestive and Kidney Diseases http://www2.niddk.nih.gov

CANADIAN RESOURCES

Canadian Liver Foundation http://www.liver.ca

Canadian Organization for Rare Disorders http://www.cord.ca

References

About Porphyria. The American Porphyria Foundation website. Available at: http://porphyriafoundation.com/about-porphyria. Accessed June 3, 2014.

Acute intermittent porphyria. EBSCO DynaMed website. Available at: http://www.ebscohost.com/dynamed. Updated July 9, 2010. Accessed June 3, 2014.

Erythropoietic porphyria. EBSCO DynaMed website. Available at: http://www.ebscohost.com/dynamed. Updated June 9, 2010. Accessed June 3, 2014.

Porphyria. National Digestive Diseases Information website. Available at: http://digestive.niddk.nih.gov/ddiseases/pubs/porphyria/. Updated February 26, 2014. Accessed June 3, 2014.

Porphyria cutanea tarda. EBSCO DynaMed website. Available at: http://www.ebscohost.com/dynamed. Updated November 29, 2012. Accessed June 3, 2014.

Porphyria: treatment and prevention. Rare Diseases Clinical Research Network—National Institutes of Health website. Available at: http://Rarediseasesnetwork.epi.usf.edu/porphyrias/patients/treatment. Accessed June 3, 2014.

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