The late cutaneous porphyria (PCT) is one of the most common types of porphyria, a disease caused by deficiency of an enzyme called uroporphyrinogen decarboxylase (UROD). The decreased activity of UROD leads to excessive production and accumulation of uroporphyrinogen protein in blood and urine. This leads to an abnormal production of heme, a compound present in all tissues and especially in the liver and red blood cells.
The PCT may originate either triggered by the hemochromatosis (accumulation of iron in the liver), alcohol abuse, intake of estrogen, hepatitis C and other viral infections. The hereditary deficiency of UROD is behind 20% of cases of PCT.
SYMPTOMS
The symptoms of PCT are limited almost exclusively to the skin. It causes skin lesions or blisters that spread mainly by the hands, forearms, neck and face and sun-exposed areas. The skin may redden, form blisters and peeled after sun exposure or a small stroke. In addition, the PCT may be darker or lighter skin, increased facial hair, cause scarring, alopecia (baldness), thicken the skin, causing itching and accelerating skin aging. In severe cases calcium can be deposited in the skin and cause sores that will not heal.
Enzymes that indicate liver function may be abnormal in analytical, but normally are only slightly elevated.
A liver biopsy should be performed to determine the reserves of iron and see the damage that is causing the PCT.
DIAGNOSIS
The diagnosis is established by the presence of skin lesions by a physical examination, together with an analysis of the
UROD in samples of blood, urine and feces.
TREATMENT
The signs and symptoms of PCT can be controlled, but there is no cure. The treatment is to avoid the sun, alcohol, estrogen and iron-rich foods. The extraction of iron in the short term through a phlebotomy (blood collection) is usually the first line of treatment, and improving the signs and symptoms of PCT. The practice of phlebotomy leave when the reserves of iron and porphyrins in the blood return to normal, but if they return the signs and symptoms may need to be more phlebotomy. They are also used anti-malarial drugs such as chloroquine, to treat this disease.
Furthermore, it has been observed that treatment of the underlying disease (hepatitis C) interferon plus ribavirin improves the skin lesions and the concentration of UROD in the urine.
Source: Hepatitis C Support Project.
* The information presented is intended to help understand and treat HCV and is not intended to serve as advisory
doctor.