Cause of low levels of porphyrins? What follow up is recommended?
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Answers:
From what you describe you probably have Polyhyria Cutanea Tardia (PCT). This disease is the most common of the porphyrias and results from a deficiency of the enzyme, uroporphyrinogen decarboxylase (UROD). PCT is essentially an acquired disease, but some individuals have a genetic (autosomal dominant) deficiency of UROD that contributes to its development. These individuals are referred to as having "familial PCT". Most individuals with the inherited enzyme deficiency remain latent and never have symptoms.
PCT is one of the hepatic porphyrias. Large amounts of porphyrins build up in the liver when the disease is becoming active. The disease becomes active when acquired factors, such as iron, alcohol, hepatitis C virus (HCV), HIV,estrogens (used, for example, in oral contraceptives and prostate cancer treatment) and possibly smoking, combine to cause a deficiency of UROD in the liver. Hemochromatosis, an iron overload disorder, also can predispose individuals to PCT. The symptoms in PCT are confined mostly to the skin. Blisters develop on sun-exposed areas of the skin, such as the hands and face. The skin in these areas may blister or peel after minor trauma. Increased hair growth, as well as darkening and thickening of the skin may also occur. Neurological and abdominal symptoms are not characteristic of PCT. Liver function abnormalities are common but are usually mild. These sometimes progress to cirrhosis and even liver cancer.
Hepatitis C is common in PCT. In some areas where this viral infection is quite prevalent, especially in southern Europe and some parts of the U.S., as many as 80% of PCT patients are infected with this virus. How this particular virus contributes to developing PCT is not known. Other hepatitis viruses are seldom implicated.
The reasonable next step would be to treat the PCT first and then look into treatment for HCV later. There are reasons not to treat the virus infection before treating the PCT. The only available treatment for HCV is a new drug called alpha-interferon that is expensive, requires repeated injections, commonly causes flu-like symptoms and only eradicates the virus about one third of the time. Also, liver damage progresses slowly if at all in many people with HCV. However, once the PCT is in remission it is important to assess the amount of liver damage the virus has already caused and to have follow up visits to a doctor to monitor the liver. In some cases it may be important to treat HCV infection to try and prevent progressive liver damage. Consult your primary MD and get a GI specialist to confirm the diagnosis. Hope this helps.
Take care.
Other Answers:
Having Hep C depending on if you are a chronic carrier, can cause problems with your liver's job of detoxifying things (like hemoglobin which leaves porphyrins to be excreted). This could easily lead to an increased level. Though im sure you Dr. was checking you for a group of conditions called the Porphyria's. You can read about them for yourself, you could be a carrier of a recessive form called Congenital Eyrthopoetic Porphyria. You can carry this mutation, but not express it. Read about it and talk with your Dr. Good Luck.
http://en.wikipedia.org/wiki/Porphyria#Erythropoietic_porphyria
same problem. only my hands look like they have been through a meat grinder with the scarring from the little blisters that appear on them.very painful. a dematologist told me that removing several units of blood would put it into remission. I followed his instructions over a period of 6 to 8 weeks and when some level or other became acceptable we stopped removing the blood. I couldn't believe the results.hands cleared up.urine became clear.it was amazing! but it was only in remission.now it is back after two years and i have to be bled again.what a @#$%! when he diagnosed this condition a few years ago he asked if i was ever tested for hep c. and sent me to some other ologist who confirmed that i did indeed have the c. dermatologist told me that he remembered reading that there was a connection between hep c and the porphyria. after a couple of liver biopsy's in five years i was told that it was a mild case of the hep.no treatment was needed at this time.friggin doctors are probably waiting for the liver to fail and cash in all at once.sorry for the novel.never had a real person to discuss this with. good luck, stay well.
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