Porphyria Cutanea Tarda Causes, Symptoms And Treatment
Summary: Porphyria cutanea tarda is a disease marked by skin lesions and blisters and may be either inherited or sporadic. Its causes, symptoms and treatment are discussed here.
Porphyria cutanea tarda, a paraneoplatic disorder, is usually caused by the Inherited and irregular mutations of a gene known as UROD and this causes about 20 % of the reported cases. The other 80 % cases are usually sporadic. The basic cause for the condition is the low excretion ( as low as 50%) of the uroporphyrinogen III decarboxylase enzyme, which is important for heme production.
The nongenetic factors responsible for Porphyria cutanea tarda include alcohol abuse and excessive iron intake which usually increase heme demand as also the enzymes that produce heme. This sudden spurt in demand and reduced uroporphyrinogen decarboxylase enzyme secretion disturbs the production of heme thus making way for excess byproducts to be stored in the human body and triggers the condition.
The third cause for Porphyria cutanea tarda is the irregular mutation of the HFE gene that causes hemochromatosis or iron overload condition. When the disease is inherited, it is in a pattern that is autosomal dominant which in simpler terms is, one altered gene is responsible for decreased enzymatic activity and may trigger the disorder. The Hepatitis C virus can also cause the disease as also excessive exposure to cyclic carbons that contain chlorine in high doses.
Multiple skin lesions and blisters are the main symptoms of this skin disease. An urine test will reveal a high level of uroporphyrinogen. Tests for hemochromatosis and Hepatitis C are also done to ascertain the diagnosis but laboratory tests may turn out to be negative also. In such cases, treatment is done for pseudoporphyria.
Porphyria Cutanea Tarda Treatment
Treatment for this disease involves comprehensive management as it is a chronic disease. Alcohol intake should be stopped immediately as also intake of iron in whatever form. In summer, direct sunlight should be avoided as also estrogen which can aggravate the condition considerably. Phlebotomy, a process to drain blood gradually from the patient may be resorted to to reduce excess iron in the blood. The use of antimalarial drugs in low doses to remove excessive porphyrins in the liver also leads to providing relief to the patient within six to twelve months. Moreover, if Hepatitis C is present in the patient, this too, calls for suitable treatment. Drugs like Chloroquine are known to treat the condition effectively as also venesection.
In sum, Porphyria cutanea tarda is a condition that can be easily diagnosed either clinically or through blood examinations. There are lines of treatment for it and it is not a life threatening disease.