People have chronically recurring blisters on the sun-exposed areas of their bodies.
Excess iron can build up in the liver, causing liver damage.
Doctors test urine and stool samples for high levels of porphyrins.
Removing blood (phlebotomy), giving chloroquine (or hydroxychloroquine), or doing both is helpful.
Porphyrias are a group of disorders caused by abnormalities of enzymes involved in the production of heme. Heme is a chemical compound that contains iron and gives blood its red color. Heme is a key component of several important proteins in the body. (See also Overview of Porphyria Overview of Porphyrias Porphyrias are a group of disorders caused by deficiencies of enzymes involved in the production of heme. Heme is a chemical compound that contains iron and gives blood its red color. Heme is... read more .)
Porphyria cutanea tarda occurs throughout the world. There are two main types:
Type 1: Acquired or sporadic (in about 75 to 80% of people)
Type 2: Hereditary or familial (in about 20 to 25% of people)
As far as is known, the sporadic form of this porphyria is the only porphyria that can occur in people who do not have an inherited deficiency of an enzyme involved in heme production.
Porphyria cutanea tarda results from underactivity of the enzyme uroporphyrinogen decarboxylase, which leads to accumulation of porphyrins in the liver. Liver disease is common. About 35% of people develop cirrhosis Cirrhosis of the Liver Cirrhosis is the widespread distortion of the liver's internal structure that occurs when a large amount of normal liver tissue is permanently replaced with nonfunctioning scar tissue. The scar... read more and 7 to 24% develop liver cancer Primary Liver Cancers Primary liver cancers are cancers that originate in the liver. The most common is hepatocellular carcinoma (hepatoma). At first, liver cancer usually causes only vague symptoms (such as weight... read more . Skin damage occurs because excess porphyrins produced in the liver are transported by the blood to the skin.
Porphyria cutanea tarda has several common precipitating factors. These factors include
Excess iron in the liver
Moderate or heavy alcohol use
Hepatitis C infection is a major risk factor for development of porphyria cutanea tarda, and it should be looked for in all patients with this disorder. If present, the initial treatment of choice is direct-acting antiviral medications to cure hepatitis C virus infection, which will nearly always also lead to remission of porphyria cutanea tarda.
Infection with the human immunodeficiency virus Human Immunodeficiency Virus (HIV) Infection Human immunodeficiency virus (HIV) infection is a viral infection that progressively destroys certain white blood cells and is treated with antiretroviral medications. If untreated, it can cause... read more (HIV) is a less common precipitating factor.
These factors are thought to interact with iron and oxygen in the liver and thereby inhibit or damage the enzyme uroporphyrinogen decarboxylase.
Some people receiving hemodialysis Dialysis Dialysis is an artificial process for removing waste products and excess fluids from the body, a process that is needed when the kidneys are not functioning properly. There are a number of reasons... read more for long periods develop a skin condition that resembles porphyria cutanea tarda because dialysis does not remove porphyrins well. This condition is termed porphyria cutanea tarda of end-stage renal disease.
Kidney failure, ultraviolet radiation (UVA), and certain medications can cause symptoms that resemble those of porphyria cutanea tarda without elevated levels of porphyrin in the liver (a condition called pseudoporphyria).
Symptoms of Porphyria Cutanea Tarda
People with the sporadic type may not develop symptoms until middle age. People with the familial type may develop symptoms during childhood.
Symptoms may not begin immediately after exposure to sunlight, so people may not realize that sun exposure is causing the symptoms.
People with porphyria cutanea tarda experience chronic, recurring blisters of various sizes on sun-exposed areas such as the arms, face, and especially the backs of the hands. Crusting and scarring follow the blisters and take a long time to heal. The skin, especially on the hands, is fragile and sensitive to minor injury.
Sometimes sun exposure causes swelling, itching, or redness. Hair growth on the face and other sun-exposed areas may increase. Sometimes areas of dark or light patches of skin develop.
Diagnosis of Porphyria Cutanea Tarda
Testing blood, urine, and stool for porphyrins
To diagnose porphyria cutanea tarda, doctors test blood, urine, and stool for unusually high levels of porphyrins. The specific porphyrins that are increased provide a pattern that allows doctors to distinguish porphyria cutanea tarda from other porphyrias.
Doctors usually do tests to determine the factor that precipitated the development of porphyria cutanea tarda and to see whether there is too much iron in the liver. If people are not already known to have hepatitis C or HIV infection, doctors do tests for those disorders.
Treatment of Porphyria Cutanea Tarda
Removal of blood (phlebotomy)
Increase porphyrin excretion in the urine
Treatment and cure of hepatitis C infection, if present
Porphyria cutanea tarda is the most readily treated porphyria. Avoiding alcohol and other precipitating factors is beneficial. People should avoid sun exposure as much as possible and should wear hats and clothing to protect themselves from sun exposure. Sunscreens containing zinc oxide or titanium oxide may be helpful. Typical sunscreens that block ultraviolet light are ineffective, but sunscreens that absorb ultraviolet A light, such as those containing dibenzylmethanes, may be effective.
For people with hepatitis C virus infection or HIV infection, treating these disorders with antiviral medication helps the porphyria.
A procedure called phlebotomy, in which a pint (almost half a liter) of blood is removed, is the most widely recommended treatment. Doctors typically do 6 to 10 sessions of phlebotomy, with sessions 2 to 4 weeks apart. With phlebotomy, the excess iron is gradually removed, the activity of uroporphyrinogen decarboxylase in the liver returns toward normal, and porphyrin levels in the liver and blood fall gradually. The skin symptoms resolve.
Phlebotomy sessions are stopped when people become slightly iron deficient (or almost so). Anemia Overview of Anemia Anemia is a condition in which the number of red blood cells is low. Red blood cells contain hemoglobin, a protein that enables them to carry oxygen from the lungs and deliver it to all parts... read more may develop if too many phlebotomy sessions are done or if sessions are done too frequently.
For people taking estrogen, doctors stop the estrogen therapy (because it is a precipitating factor of the porphyria) until phlebotomy has been completed and porphyrin levels are normal.
Medications to increase porphyrin excretion
Very low doses of chloroquine or hydroxychloroquine are also effective in treating porphyria cutanea tarda. These medications remove excess porphyrins from the liver by increasing their excretion in the urine. However, doses that are too high cause porphyrins to be removed too rapidly, resulting in a temporary worsening of the disorder and damage to the liver.
Medications to treat chronic hepatitis C
Several medications and combinations of medications that are highly effective for the treatment and cure of chronic hepatitis C, called direct-acting antiviral medications, are now in widespread use. Use of these medications, along with decreasing alcohol use and quitting smoking, can usually treat and cure both the hepatitis and porphyria cutanea tarda.
The following English-language resources may be useful. Please note that THE MANUAL is not responsible for the content of these resources.
American Porphyria Foundation: Aims to educate and support patients and families affected by porphyrias
The United Porphyrias Association: Provides education and support to patients and their families; provides reliable information to health-care providers; fosters and supports clinical research to improve diagnosis and management of the porphyrias
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