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Porphyrias are a group of rare disorders passed down through families, in which an important part of hemoglobin, called heme, is not made properly. Heme is also found in myoglobin, a protein found in certain muscles.
Alternative NamesAcute intermittent porphyria; Hereditary coproporphyria; Congenital erythropoietic porphyria; Erythropoietic protoporphyria
Causes, incidence, and risk factorsNormally, the body makes heme in a multi-step process. Porphyrins are made during several steps of this process. Patients with poryphyria have a lack (deficiency) of 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.
SymptomsPorphyrias involve three major symptoms:
- Abdominal painor cramping (only in some forms of the disease)
- Light sensitivity causing rashes and scarring of the skin (photodermatitis)
- Problems with the nervous system and muscles ( seizures, mental disturbances)
Attacks can occur suddenly, usually with severe stomach 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. They may be disfiguring. Urine may turn red or brown after an attack.
Other symptoms may 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 severe electrolyte imbalances, low blood pressure, and shock.
Signs and testsYour doctor will perform a physical exam, which includes listening to your heart. You may have a fast heart rate (tachycardia). The doctor may find that your deep tendon reflexes (knee jerks) do not work properly.
Blood and urine tests may reveal kidney problems or other problems. Special tests can measure porphyrins in the blood.
Some of the other tests that may be done include:
- Blood gases
- BUN
- Creatinine clearance
- Liver function tests
- Serum creatinine
- Serum potassium
- Tests to measure the level of porphyrins and other chemicals linked to this condition
- Urinalysis
Some of the medicines used to treat a sudden (acute) attack of porphyria may include:
- Hematin given through a vein (intravenously)
- Pain medication
- Propranolol to control the heartbeat
- Sedatives to help you feel sleepy and less anxious
Other treatments may include:
- Chloroquine
- Fluids and glucose to boost carbohydrate levels, which helps limit the production of porphyrins
- Removal of blood (phlebotomy)
- Beta-carotenesupplements
Depending on the type of porphyria you have, your doctor 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
Porphyrias are life-long diseases with symptoms that come and go. Some forms of the disease cause more symptoms than others. Proper treatment and avoidance of triggers can help reduce the time between attacks.
Complications- Coma
- Gallstones
- Lung failure
- Loss of movement (paralysis) that gets worse
- Scarring of the skin
Seek medical attention as soon as you have signs of an acute attack. Talk to your doctor about your risk for this condition if you have a long history of undiagnosed abdominal pain, muscle and nerve problems, and sensitivity to sunlight.
PreventionGenetic counseling may be of benefit to prospective parents with a family history of any type of porphyria.
ReferencesAnderson K. The porphyrias. In: Goldman L, Ausiello D, eds. Cecil Medicine. 23rd ed. Philadelphia, Pa: Saunders Elsevier; 2007:chap 229.
What else can I help you with?
What is acute intermittent porphyria also called?
Swedish porphyria, pyrroloporphyria, and intermittent acute porphyria.
Is porphyria dominant or recessive?
both depending on the type of porphyria
When was Porphyria's Lover created?
Porphyria's Lover was created in 1836.
What actors and actresses appeared in Porphyria - 2013?
The cast of Porphyria - 2013 includes: Jasmin Egner as Porphyria Simon McCay as Thomas
What is congenital erythropoietic porphyria also called?
CEP is also called Gunther's disease, erythropoietic porphyria, congenital porphyria, congenital hematoporphyria, and erythropoietic uroporphyria.
Did count Dracula suffer from porphyria?
There is no definitive evidence to suggest that Count Dracula, a fictional character created by Bram Stoker, suffered from porphyria. The link between porphyria and vampire lore is largely a modern interpretation. Stoker's inspiration for Dracula came from various sources, and there is no direct reference to porphyria in the novel.
What does Porphyria's lover desire?
Porphyria's lover desires to possess Porphyria completely, to have her love him and be with him forever. He wants her to be devoted solely to him and not to anyone else, even if it means resorting to extreme measures to ensure her loyalty.
How is porphyria diagnosed?
Urine test, blood plasma tests, biochemical tests to determine type of porphyria, enzyme test.
What is the difference between paraerythropoietic porphyria and erythropoietic porphyria?
Paraerythropoietic porphyria does not exist in standard medical textbooks on porphyria. "Para" means beside. Apparently, this name should indicate that is something like erythopoietic porphyria. Erythropoietic porphyria is in most cases a very severe disease starting in neonates, in most instances. A disease named erythropoietic protoporphyria is less severe, but begins also in childhood. The main symptom of both diseases is intolerance of sunlight that induces pain and/or blisters in sun-exposed skin.
How do you pronounce porphyria?
Porphyria (Poor-fear-E-ah) Porphyria is not a single disease but a group of at least eight disorders that differ considerably from each other. A common feature in all porphyrias is the accumulation in the body of "porphyrins" or "porphyrin precursors." Although these are normal body chemicals, they normally do not accumulate. Precisely which of these chemicals builds up depends upon the type of porphyria.
What is variegate porphyria also called?
Also known as porphyria variegata, protocoproporphyria, South African genetic porphyria, and Royal malady (supposedly King George III of England and Mary, Queen of Scots, suffered from VP).
How does the speaker kills porphyria?
If by this question you're making reference to the Robert Browning poem "Porphyria's Lover" the poem's speaker strangled Porphyria with her hair. If you are actually asking about a speech someone has perhaps made on the disease called porphyria, I have no idea as to how one might cure oneself of it and thus tender instead my sincere apologies.
