Health&Fitness Talk

Supporting Healthy Life Styles

Porphyrias Porphyrias
by Kimberly Allen, RN Porphyrias are a group of disorders that can affect your skin or nerves.  The most common type of porphyria is... Porphyrias

by Kimberly Allen, RN

Porphyrias are a group of disorders that can affect your skin or nerves.  The most common type of porphyria is called porphyria cutaneous tarda or PCT.  PCT can be either acquired or inherited.  approximately 80% of PCT cases are acquired with the remaining 20% being inherited.  PCT can be found worldwide though in the US approximately 1 in 25,000 people are affected.  PCT can develop at any age, however it is most commonly seen in people over 30 years of age and is very rare in children.skin-porphyria

PCT is a member of the hepatic porphyrias.  It is caused by insufficient amounts of the enzyme uroporphyrinogen decarboxylase or UROD.  People with the inherited type of PCT have type 2 or familial PCT which is an autosomal dominant disorder.  People with spontaneous or sporadic PCT have type 1.  In both types the liver enzyme UROD is inhibited.  Also, in both the familial as well as the sporadic types of PCT an environmental trigger initiates the disease.  Factors that can trigger PCT include alcohol, hepatitis C and HIV as well as high iron levels and estrogen’s used as contraceptives and to treat prostate cancer.

People with PCT have symptoms that almost exclusively involve the skin.  Most areas of the skin that are exposed to sun light blister and become fragile.  The most common areas affected are the backs of your hands , your forearms and frequently your face and neck.  The skin in the affected areas also tends to blister and peel after a minor injury.  Some people with PCT also experience increased hair growth which can be spontaneous.  Others notice a thickening and even darker skin.  PCT is also usually accompanied by other impairments in liver function which can be mild or progress to cause cirrhosis or cancer of the liver.

Fortunately PCT is the most treatable of type of the porphyrias, both for the familial PCT and sporadic PCT.  The first step in treating PCT is to determine the trigger and remove it.  the standard treatment and most widely accepted treatment is regular blood draws or phlebotomy’s to reduce the level of iron in your liver.  Usually about 1 pint of blood is removed every 2 weeks for a total of 5 to 7 pints. for most people with PCT.  Some doctors may prefer an alternative treatment approach by giving low doses of either chloroquine or hydroxychloroquine two times a week.  However, caution must be used with this approach as too much of these medications can cause increased liver damage and worsen the PCT.  After treatment you may continue to require periodic measurements of your plasma porphyrines.

Because as many as 80% of those with PCT also have hepatitis C it’s important to address treatment of hepatitis C as well.  In most cases your doctor will want to treat the PCT first.  In most people with hepatitis C liver damage progresses very slowly therefore treatment of PCT is done first and then the liver is assessed for damage before beginning treatment for hepatitis C.

Treatment for PCT is usually effective and the prognosis is usually excellent.  However, you will need to have your liver function monitored periodically and continue to avoid triggers like alcohol and in some cases oral contraceptives.  Even with treatment you will need to wear sunscreen and take precautions against skin cancer.

Kimberly Allen is a registered nurse with an AND in nursing. She has worked in ACF, LCF and psychiatric facilities, although she spent most of her career as a home health expert. She is now a regular contributor to HealthAndFitnessTalk.com, dispensing advice and knowledge about medical issues and questions. You can reach her with any comments or questions at  mussatti3@gmail.com.

 

 

Clemdog