Learn About Porphyria

What is the definition of Porphyria?

Porphyrias are a group of rare inherited disorders. An important part of hemoglobin, called heme, is not made properly. Hemoglobin is a protein in red blood cells that carries oxygen. Heme is also found in myoglobin, a protein found in certain muscles.

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What are the alternative names for Porphyria?

Porphyria cutanea tarda; Acute intermittent porphyria; Hereditary coproporphyria; Congenital erythropoietic porphyria; Erythropoietic protoporphyria

What are the causes of Porphyria?

Normally, the body makes heme in a multi-step process. Porphyrins are made during several steps of this process. People with porphyria are lacking certain enzymes needed for this process. This causes abnormal amounts of porphyrins or related chemicals to build up in the body.

There are many different forms of porphyria. The most common type is porphyria cutanea tarda (PCT).

Drugs, infection, alcohol, and hormones such as estrogen may trigger attacks of certain types of porphyria.

Porphyria is inherited. This means the disorder is passed down through families.

What are the symptoms of Porphyria?

Porphyria causes three major symptoms:

  • Abdominal pain or cramping (only in some forms of the disease)
  • Sensitivity to light that can cause rashes, blistering, and scarring of the skin (photodermatitis)
  • Problems with the nervous system and muscles (seizures, mental disturbances, nerve damage)

Attacks can occur suddenly. They often start with severe abdominal pain followed by vomiting and constipation. Being out in the sun can cause pain, sensations of heat, blistering, and skin redness and swelling. Blisters heal slowly, often with scarring or skin color changes. The scarring may be disfiguring. Urine may turn red or brown after an attack.

Other symptoms include:

  • Muscle pain
  • Muscle weakness or paralysis
  • Numbness or tingling
  • Pain in the arms or legs
  • Pain in the back
  • Personality changes

Attacks can sometimes be life threatening, producing:

  • Low blood pressure
  • Severe electrolyte imbalances
  • Shock
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What are the current treatments for Porphyria?

Some of the medicines used to treat a sudden (acute) attack of porphyria may include:

  • Hematin given through a vein (intravenously)
  • Pain medicine
  • Propranolol to control the heartbeat
  • Sedatives to help you feel calm and less anxious

Other treatments may include:

  • Beta-carotene supplements to lessen photosensitivity
  • Chloroquine in low doses to reduce levels of porphyrins
  • Fluids and glucose to boost carbohydrate levels, which helps limit the production of porphyrins
  • Removal of blood (phlebotomy) to reduce levels of porphyrins

Depending on the type of porphyria you have, your provider may tell you to:

  • Avoid all alcohol
  • Avoid drugs that may trigger an attack
  • Avoid injuring the skin
  • Avoid sunlight as much as possible and use sunscreen when outside
  • Eat a high-carbohydrate diet
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What are the support groups for Porphyria?

More information and support for people with porphyria and their families can be found at:

  • American Porphyria Foundation -- porphyriafoundation.org/for-patients/patient-portal/
  • National Institute of Diabetes and Digestive and Kidney Diseases -- www.niddk.nih.gov/health-information/liver-disease/porphyria
  • National Organization for Rare Disorders -- rarediseases.org/rare-diseases/porphyria/
What is the outlook (prognosis) for Porphyria?

Porphyria is a life-long disease with symptoms that come and go. Some forms of the disease cause more symptoms than others. Getting proper treatment and staying away from triggers can help lengthen the time between attacks.

What are the possible complications of Porphyria?

Complications may include:

  • Coma
  • Gallstones
  • Paralysis
  • Respiratory failure (due to weakness of chest muscles)
  • Scarring of the skin
When should I contact a medical professional for Porphyria?

Get medical help as soon as you have signs of an acute attack. Talk to your provider about your risk for this condition if you have a long history of undiagnosed abdominal pain, muscle and nerve problems, and sensitivity to sunlight.

How do I prevent Porphyria?

Genetic counseling may benefit people who want to have children and who have a family history of any type of porphyria.

Porphyria cutanea tarda on the hands
What are the latest Porphyria Clinical Trials?
Safety and Efficacy of Panhematin™ for Prevention of Acute Attacks of Porphyria
Summary: The purpose of this study is to determine if Panhematin is safe and effective for prevention of acute attacks of porphyria.~The study aims to provide high quality evidence for the use on hemin for prevention of acute attacks of porphyria. High quality studies have not been done previously for treating or preventing acute attacks with hemin. The lack of strong evidence for efficacy of hemin for tre...
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Effect of Oral Cimetidine in the Protoporphyrias
Summary: Erythropoietic protoporphyria (EPP) and X-linked protoporphyria (XLP) result from genetic defects of heme biosynthesis that cause life-long, painful cutaneous sensitivity to light. The objective of this study is to determine the efficacy and safety of oral cimetidine administration for treatment of the protoporphyrias. Efficacy will be based on protoporphyrin levels, photosensitivity, and quality ...
What are the Latest Advances for Porphyria?
Topical chlormethine gel in the treatment of mycosis fungoides: A single-center real-life experience and systematic review of the literature.
Summary: Topical chlormethine gel in the treatment of mycosis fungoides: A single-center real-life experience and systematic review of the literature.
Cimetidine for erythropoietic protoporphyria.
Summary: Cimetidine for erythropoietic protoporphyria.
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The historical differential diagnosis of the disease that afflicted Aleijadinho, the famous 18th century Brazilian sculptor.
Summary: The historical differential diagnosis of the disease that afflicted Aleijadinho, the famous 18th century Brazilian sculptor.
Who are the sources who wrote this article ?

Published Date: January 19, 2021
Published By: Todd Gersten, MD, Hematology/Oncology, Florida Cancer Specialists & Research Institute, Wellington, FL. Review provided by VeriMed Healthcare Network. Also reviewed by David Zieve, MD, MHA, Medical Director, Brenda Conaway, Editorial Director, and the A.D.A.M. Editorial team.

What are the references for this article ?

Balwani M, Desnick RJ, Anderson KE. The porphyrias. In: Kliegman RM, St. Geme JW, Blum NJ, Shah SS, Tasker RC, Wilson KM, eds. Nelson Textbook of Pediatrics. 21st ed. Philadelphia, PA: Elsevier; 2020:chap 110.

Dinulos JGH. Light-related diseases and disorders of pigmentation. In: Dinulos JGH, ed. Habif's Clinical Dermatology. 7th ed. Philadelphia, PA: Elsevier; 2021:chap 19.

Fuller SJ, Wiley JS. Heme biosynthesis and its disorders: porphyrias and sideroblastic anemias. In: Hoffman R, Benz EJ, Silberstein LE, et al, eds. Hematology: Basic Principles and Practice. 7th ed. Philadelphia, PA: Elsevier; 2018:chap 38.

Hift RJ. The porphyrias. In: Goldman L, Schafer AI, eds. Goldman-Cecil Medicine. 26th ed. Philadelphia, PA: Elsevier; 2020:chap 199.