Porphyria Cutanea Tarda, Familial Type
Porphyria Cutanea Tarda, Familial Type Causes
PCT, familial type, as the term familial suggests, is inheritted. Individuals suffering from this disorder have inherited mutations of the UROD gene which producces an enzyme critical to the production of heme. The capacity of the enzyme is reduced to half than normal for persons with PCT, familial.
Porphyria Cutanea Tarda, Familial Type Definition
Porphyria cutanea tarda (PCT), familial type, is the type of PCT that is inheritted. It constitutes 20% of all cases of the disease. In general, PCT is a disease characterized by having low levels of the enzyme used in producing heme, a molecule vital to all organs of the body.
Porphyria Cutanea Tarda, Familial Type Diagnosis
Primary diagnosis of PCT, familial can be based on the blisters and skin lesions that appear on the skin of individuals suffering from the disease. A more conclusive diagnosis of the disease, however, can only be made through laboratory testing. Persons with PCT commonly have high levels of uroporphyrinogen in their urine. It is also strongly suggested that testing for Hepatitis C and hemochromatosis be made since these conditions are closely related to PCT.
Porphyria Cutanea Tarda, Familial Type Symptoms and Signs
Individuals with PCT have photosensitive skin that results in blisters or erosions in areas of the skin that are exposed. Othes symptoms include hyperpigmentation and hypertrichosis.
Porphyria Cutanea Tarda, Familial Type Treatment
Being a chornic condition, PCT familial can be treated best with proper management. Individuals suffering from PCT are strongly advised to avoid alcoholic beverages, iron supplements, excess exposure to sunlight, chlorinated cyclic hydrocarbons and estrogen.