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
Who are the top Porphyria Local Doctors?
Elite
Highly rated in
5
conditions

Karolinska University Hospital

Stockholm, AB, SE 

Eliane Sardh is in Stockholm, Sweden. Sardh is rated as an Elite expert by MediFind in the treatment of Porphyria. She is also highly rated in 5 other conditions, according to our data. Her top areas of expertise are Acute Hepatic Porphyria, Porphyria, Acute Intermittent Porphyria, and Hereditary Coproporphyria.

Elite
Highly rated in
8
conditions

Karolinska University Hospital

Stockholm, AB, SE 

Pauline Harper is in Stockholm, Sweden. Harper is rated as an Elite expert by MediFind in the treatment of Porphyria. She is also highly rated in 8 other conditions, according to our data. Her top areas of expertise are Porphyria, Acute Hepatic Porphyria, Acute Intermittent Porphyria, and Variegate Porphyria.

 
 
 
 
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Elite
Highly rated in
23
conditions

The Mount Sinai Hospital Pharmacy Association

New York, NY 

Robert Desnick is in New York, New York. Dr. Desnick is rated as an Elite doctor by MediFind in the treatment of Porphyria. He is also highly rated in 23 other conditions, according to our data. His top areas of expertise are Porphyria, Acute Intermittent Porphyria, Acute Hepatic Porphyria, and Congenital Erythropoietic Porphyria. He is licensed to treat patients in New York. Dr. Desnick is currently accepting new patients.

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?
Dental Health, Diet, Inflammation and Biomarkers in Patients With Acute Intermittent Porphyria(AIP)
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Longitudinal Study of the Porphyrias
What are the Latest Advances for Porphyria?
Two Novel Hydroxymethylbilane Synthase Splicing Mutations Predispose to Acute Intermittent Porphyria.
Profiling of Serum Metabolites of Acute Intermittent Porphyria and Asymptomatic HMBS Mutation Carriers.
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Sight-threatening progressive corneo-scleral involvement in porphyria cutanea tarda.
What are our references for Porphyria?

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.