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Porphyria Cutanea Tarda

What is Porphyria Cutanea Tarda?

This medical condition belongs to a group of disorders that can cause skin or nerve problems called porphyria. Porphyria cutanea tarda (PCT) affects your skin and is also the one that is most treatable. It is also the one that people most commonly have. There are two other types called acute porphyria that affects your nervous system and cutaneous porphyria that also affects your skin. It is estimated that one in twenty-five thousand people have porphyria cutanea tarda, which makes it a rare medical condition. Approximately eighty percent of the cases of porphyria cutanea tarda are not inherited, also known as sporadic.

Porphyria Cutanea Tarda Symptoms

Porphyria cutanea tarda is often asymptomatic which means there are no symptoms but some of the characteristics of this medical condition can include:

  • Detachment of your nail from the nail bed called onycholysis
  • Blistering of your skin in places that have a higher level of exposure to sunlight, which is usually your lower legs, face, forearms, and hands. This is the most common skin problem with this form of porphyria. When these blisters heal it is usually done slowly and will leave scars.
  • Having hyper-pigmentation, which makes you look as if you are getting a tan
  • Having hypertrichosis which is an abnormal amount of hair growth, especially on top of your cheeks.
  • Your skin appearing to thicken or becoming so delicate that your skin can be damaged by even the smallest injury like a scratch.
  • Your skin may peel after minor trauma
  • Having sensitivity to sunlight.

In addition, a person may also have mild chronic liver problems such as inflammation or scarring of your liver in people who have not inherited porphyria cutanea tarda but sometimes it can progress to poor liver function called cirrhosis or sometimes liver cancer. Chronic liver problems are less common in patients who have the inherited form of porphyria cutanea tarda.

Causes of Porphyria Cutanea Tarda

The three types of porphyria have the same root cause which is a problem with the production of heme, which is a component of hemoglobin and is called a porphyrin. Hemoglobin is a protein that is found in your red blood cells that carries oxygen from your lungs to the rest of your body. Heme is what gives your blood the red color because it contains iron. Heme is produced in your bone marrow and liver. There are eight different enzymes involved in the production of heme. When there is a shortage of any of these eight enzymes it can create an excessive buildup of certain chemicals compounds that are involved in the production of heme. Which enzyme that is lacking, or having a shortage of, determines which type of porphyria you have.

When you have porphyria cutanea tarda it is the fifth step in the production of heme. The enzyme that you have a deficiency is called uroporphyrinogen decarboxylase (UROD). This type of porphyria is one of hepatic porphyrias. When this medical condition starts to become active it is because there is a large amount of porphyrin building up in your liver.

When a person has porphyria cutanea tarda it is often an acquired disease but it can be inherited. Most people who have inherited this enzyme deficiency never develop symptoms but instead this medical condition will become active when the enzyme deficiency is triggered by certain lifestyle choices or certain conditions which included:

  • Excessive intake of iron whether through supplements or foods that are rich in iron
  • Drinking alcohol
  • Having an infection caused by a virus such as HIV or Hepatitis C
  • Smoking
  • The inability to filter the blood for long term kidney failure called hemodialysis
  • Estrogen used in prostate cancer treatment and in oral contraceptives
  • Being exposed to toxic chemicals

Any of these triggers or a combination of triggers can cause a deficiency of UROD in your liver resulting in porphyria cutanea tarda. There are three different types of porphyria cutanea tarda which are:

  • Type 1 – inherited
  • Type 2 – sporadic
  • Type 3 – there is an inherited pattern in which more than one member of the family is affected but this type does not involve a mutation of the UROD gene. In this type the generic factor may be the human hemochromatosis protein (HFE) gene mutation. This type is the one that is the rarest.

The difference between Type1 and Type 2 is that in Type 1 shows no mutations in the UROD gene but instead your body has an unusually high demand for heme and the enzymes that are involved in the production of heme.

Diagnosis

Although the most common symptom is blistering and appearance of skin lesions in order to definitively diagnosis porphyria cutanea tarda your physician will have stool, urine, and blood tests done. The best time to have these tests done is around the time you have the symptoms or when you have an outbreak of the symptoms. The preferred screening tests for this type of porphyria are to measure the porphyrin in your plasma or a urine test to see if there is a high level of uroporphyrinogen. Your physician may also test you for Hepatitis C virus infection by doing a blood test in order to detect if there are any antibodies to this virus.

Porphyria Cutanea Tarda Pictures

Collection of Pictures, Photos and Images of Porphyria Cutanea Tarda…

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Treatment

Although porphyria cutanea tarda is the one that is most treatable at this time there is no known cure for it. It is a chronic medical condition so the most effective treatment is managing the medical condition and will often include:

  • Avoiding the triggers that can cause this medical condition to become active such as not drinking alcohol, avoiding excessive exposure to sunlight, etc.
  • Taking low doses of either of these anti-malarial medications hydroxychloroquine or chloroquine.
  • Reducing the amount of iron in your liver by having regular blood removal called phlebotomies or venipuncture. When you have this procedure done blood is removed through the vein.

You will often see a remission of porphyria cutanea tarda within six to twelve months. Because there is a strong association between Hepatitis C virus infection and porphyria cutanea tarda it is vital that the Hepatitis C virus infection is also treated if it shows that you have this medical condition. Porphyria cutanea tarda is normally treated first and then Hepatitis C virus infection is treated. Treating porphyria cutanea tarda is almost always successful with an excellent prognosis.


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