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:
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:
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:
Some of the medicines used to treat a sudden (acute) attack of porphyria may include:
Other treatments may include:
Depending on the type of porphyria you have, your doctor may tell you to:
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.
ComplicationsSeek 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.
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 porphyria have a 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:
Attacks can occur suddenly, usually 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. They may be disfiguring. Urine may turn red or brown after an attack.
Other symptoms may include:
Attacks can sometimes be life threatening, producing:
Your 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 or others) 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:
Some of the medicines used to treat a sudden (acute) attack of porphyria may include:
Other treatments may include:
Depending on the type of porphyria you have, your doctor may tell you to:
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 prolong the time between attacks.
ComplicationsSeek 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 benefit people who want to have children and who have 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.
Wiley JS, Moore MR. Heme biosynthesis and its disorders: porphyrias and sideroblastic anemias. In: Hoffman R, Benz EJ Jr., Shattil SJ, et al, eds. Hoffman Hematology: Basic Principles and Practice. 5th ed. Philadelphia, Pa: Churchill Livingstone Elsevier; 2008:chap 38.
Reviewed ByReview Date: 02/28/2011
David C. Dugdale, III, MD, Professor of Medicine, Division of General Medicine, Department of Medicine, University of Washington School of Medicine; and Yi-Bin Chen, MD, Leukemia/Bone Marrow Transplant Program, Massachusetts General Hospital. Also reviewed by David Zieve, MD, MHA, Medical Director, A.D.A.M., Inc.
Swedish porphyria, pyrroloporphyria, and intermittent acute porphyria.
both depending on the type of porphyria
Porphyria's Lover was created in 1836.
The cast of Porphyria - 2013 includes: Jasmin Egner as Porphyria Simon McCay as Thomas
it can be, if the porphyria is ACQUIRED, rather than inherited.
Yes, congenital erythropoeitic porphyria (CEP).
CEP is also called Gunther's disease, erythropoietic porphyria, congenital porphyria, congenital hematoporphyria, and erythropoietic uroporphyria.
Porphyria
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.
Yes, in acute intermittent porphyria, both pyrroles and porphyrins are excreted in the urine to an excessive degree.
Urine test, blood plasma tests, biochemical tests to determine type of porphyria, enzyme test.
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.