Variegate Porphyria

Variegate porphyria is a type of disorder that occurs when there is a genetic deficiency of one of the enzymes in an individual. It is not a common complication and equally affects both males and females only after puberty. Sometimes, the disorder also affects small kids but rarely. The researchers are still trying to figure out permanent cure for variegate porphyria but there are certain treatment techniques through which this disorder can be controlled.

This complication surfaces when the production of hematin is not normal in the body. Hematin is a red colored organic pigment in the complex form and not only comprises iron but even other atoms that help in binding oxygen. You can find hematin in any of the tissues of the body but it amply exists in the liver and erythrocytes. Similarly there are pigments called porphyrins that are also present in the tissues of the body and they are converted into hematin by enzymes. This continuous conversion process hampers when any of the enzymes is deficient in the body due to heredity thus causing accumulation of porphyrins that may lead to the occurrence of variegate porphyria.

Symptoms

The signs of this complication become evident when there are certain disturbances in specific parts of the body like that happens with the alimentary tract as a result of which stomach related problems occurs suddenly such as constipation. Variegate porphyria can also affect the nervous system due to which an individual may suffer from epilepsy or psychosis apart from feeling of pain accompanied by extreme weakness in the entire body. If the cardiovascular system is affected by the problem then there will be a fluctuation of blood pressure. Your skin can also become hypersensitive owing to this complication and it starts itching and sometimes swells. In several cases, blisters also appear on the skin. The urine of the affected person becomes red in color.

Causes

Heredity is one of the major reasons for the occurrence of variegate porphyria. An affected person can receive a defective gene either from one of the parents or from both. And owing to this defective gene there is a deficiency of one of the enzymes that eventually coverts porphyrin into hematin. In spite of the transfer of defective gene from parents to children, in a majority of the cases, this complication does not show any symptom and may remain dormant in the body, therefore it is said to be the rare occurring disease.

Variegate porphyria can also be caused due to other factors like tension, too much consumption of alcohol, recently undergone operation, overexposure to sunrays, hormonal change during menstruation cycle or because of any type of fungal, bacteria or viral infection. An individual may also get affected by this disorder if he/she is taking drugs like sedative-hypnotics, sulfa or even oral contraceptives.

Diagnosis

Although the complication has few symptoms but they so common that several other diseases are also characterized by them thus making the doctor more confused. Being a rare occurring disease, it is really not possible to diagnose variegate porphyria without conducting certain laboratory tests. Hence the doctor will first take out the sample of the blood to find out whether porphyrins have been increased or not. Similarly, if the urine test shows that the color of the urine is red and contain ample porphyrins then a person is suffering from variegate porphyria. The doctor may also take out stool test if the urine test does not show any evident sign of the complication.

Treatment and prevention

Although there are no specific treatment methods to cure variegate porphyria, however the doctor can give some pain relievers to the affected person to get rid of pain and would quickly try to cure any infection or disease that might have resulted into the occurrence of the complication. The doctor will also take certain measures to maintain carbohydrate level in the body of an individual. There are medicines which also helps the body to reduce the amount porphyrin and this can somewhat comfort the patient. Apart from this, the doctor will ask the affected person not to use or consume those things that can cause variegate porphyria.