Porphyria is a group of genetic disorders that affect the nervous system and skin, caused by a buildup of porphyrins in the body. Symptoms vary depending on the type of porphyria, and triggers can include hormonal fluctuations, high levels of iron, viruses, and certain medications. Treatments focus on preventing attacks and lowering porphyrin levels, and may include antimalarial drugs, beta carotene supplements, and IV fluids. The condition has been linked to historical figures such as King George III and Vincent van Gogh, and has been offered as an explanation for vampire and werewolf legends.
Porphyria is a group of at least eight disorders that affect the human nervous system and skin. These disorders are usually genetic, but some people with porphyria may not experience symptoms unless they encounter certain triggers, and others may never experience any symptoms. It is estimated that about 1 in 25,000 people in the United States have this condition, and there may be up to 1 in 50 people worldwide. It can usually be diagnosed with blood, urine, and stool tests and sometimes an ultrasound of the abdomen.
Multiple types
There are two main categories of porphyria: acute and cutaneous. Acute types can affect both the nervous system and the skin, while cutaneous types usually only affect the skin. Two specific types, variegate porphyria and hereditary coproporphyria, are considered both acute and cutaneous because they can affect both the nervous system and the skin.
acute
Cutaneous
Both acute and cutaneous
Acute Intermittent Porphyria (AIP)
Porphyria Cutanea Tarda (PCT)
I will vary the porphyria
Porphyria da deficit of ALAD (ADP)
Protoporphyria erythropoietica (PPE)
Hereditary coproporphyria
Protoporphyria erythropoietica (EPP) or protoporphyria
Epatoerythropoietic porphyria (EPH)
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This condition can be caused by inheriting defective genes from one parent, called an autosomal dominant porphyria, or by inheriting defective genes from both parents, called an autosomal recessive porphyria.
Physiologically, this condition occurs when too much of a group of chemicals called porphyrins, shown above in gray and blue, build up in the body. Humans naturally have some porphyrins in their bodies, but they are normally converted into heme, a chemical compound found throughout the body. Heme is important because it is an important part of hemoglobin, which is a protein that allows blood to carry oxygen and carbon dioxide throughout the body. In those with porphyria, the body doesn’t make enough of at least one of the eight enzymes that convert porphyrin to heme, which leads to the buildup of porphyrins.
Having a buildup or porphyrins can cause a variety of symptoms, depending on where the buildup occurs. This is why there are multiple types of the disease. For example, in PCT, porphyrins accumulate mainly in the liver, while in HEP, porphyrins accumulate mainly in red blood cells, blood plasma, and bone marrow.
One type of porphyria, PCT, is typically acquired, rather than inherited, although conditions that predispose a person to PCT run in families. PCT is a buildup of porphyrins in the liver, which can be caused by a combination of several factors, including too much iron or estrogen in the body, certain viruses, and an inherited deficiency of a certain enzyme called uroporphyrinogen decarboxylase (UROD).
Attack triggers
Even when a person has this condition, they may not experience symptoms unless there is a trigger; a substance or circumstance that triggers an attack. Common triggers include:
Hormonal fluctuations, especially those related to estrogen. Many women with this condition experience attacks before or during menstruation or during pregnancy.
High levels of iron.
A virus or infection, such as hepatitis.
Use of drugs or alcohol and possibly smoking.
Some over-the-counter medications, including some contraceptives, sedatives, barbiturates, some antibiotics, vitamins, anesthetics, and tranquilizers.
However, an attack doesn’t always have a known trigger, which can make it difficult to know when an attack is coming or how to prevent it.
Symptoms
Most people with any type of porphyria develop no symptoms. In this case we speak of latent porphyria. When symptoms do occur, they may include:
Extreme photosensitivity or sensitivity to light. Those with this disease are often extremely allergic to sunlight and can develop severe burns and itchy blisters just from walking outside. These burns and blisters are also known as photodermatitis and often scar.
Urine that turns red or purple in sunlight.
Edema, or water retention, leading to swelling.
Those with acute porphyrias may experience all of the above symptoms and also:
Convulsions.
Paranoia, confusion and anxiety.
Hallucinations.
High blood pressure.
Insomnia.
Vomiting, diarrhea and constipation.
Severe pain in the muscles, stomach, limbs and back sometimes leading to weakness.
Excessive sweating and associated dehydration.
Some types of this condition, especially acute intermittent porphyria, have symptoms that can come and go suddenly, sometimes with no known trigger. This can make diagnosis extremely difficult, because the tests used for diagnosis work by detecting porphyrin levels, which are particularly high just before and during an attack. If a person’s levels are relatively normal between attacks, it is difficult to make a diagnosis. It usually takes several rounds of testing to diagnose porphyria because of the way it tends to come and go and because many of the symptoms are also symptoms of other conditions.
Sometimes other conditions can cause similar symptoms, including something called pseudoporphyria. People with pseudoporphyria are often sensitive to light and may get itchy blisters when their skin is also exposed to light. Doctors can tell the difference between pseudoporphyria and the real thing with a blood or urine test.
treatments
Treatments usually focus on preventing attacks and lowering porphyrin levels in the body. Preventive treatments include:
Identify and avoid triggers.
Minimize stress.
Wear sunscreen and cover up when you go out.
Take care of diseases and infections promptly.
Get good nutrition and eat a high carbohydrate diet. High levels of carbohydrates can limit porphyrin production.
Other treatments focus on lowering porphyrin levels in the body. This can be done either by directly removing the porphyrins or by trying to get the body to produce fewer porphyrins to begin with. These types of treatments include:
Chloroquine and other antimalarial drugs. Although these drugs are usually taken to prevent or treat malaria, they can absorb porphyrin and help the body get rid of it more quickly.
Beta carotene supplements. When taken long-term, these supplements can help increase your skin’s tolerance to light.
Phlebotomy, or blood draw. This removes iron from the body, which temporarily leads to lower porphyrin production.
Intravenous (IV) fluids, especially sugars and other carbohydrates. This helps limit the production of porphyrin.
IV heme substitutes such as Panhematin®.
Most people with the condition are also given pain relievers during attacks and, if needed, psychiatric care. As late as the 1950s people with the condition were treated with electroshock therapy, but it is no longer a recommended treatment.
History and Cultural References
People speculate that several famous historical figures had porphyria, including “Mad” King George III, who ruled the United Kingdom during the American Revolution. While this theory has been popularized and even featured in the movie The Madness of King George, no conclusive evidence has been found. George III’s great-great-grandson Prince William of Gloucester was diagnosed with porphyria variegate in the late 1960s. Other psychiatrists speculate that painter Vincent van Gogh and his brother may also have had the condition.
Porphyria has also been offered as an explanation for the development of vampire and werewolf legends as it causes photosensitivity, which vampires are said to have, and sometimes causes mental breakdowns leading to irrational behavior.
Additional Resources
Web sites
www.porphyriafoundation.com — Detailed information on specific porphyrias, as well as treatments and support for sufferers of this condition.
http://emedicine.medscape.com — General information and a diagram of heme production.
www.mayoclinic.com — A broad overview of this condition, including causes, symptoms, and treatments.
http://digestive.niddk.nih.gov — General information about the illness as well as specific information about the enzymes involved in porphyrin conversion.
www.ncbi.nlm.nih.gov — An overview of causes, symptoms, risk factors, treatments, and complications.
Video
Video 1 — Urine from someone with this condition that changes color in the sun.
Video 2 — General information about this condition and heme conversion.
Video 3 — Learn more with illustrations.
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