What is Porphyria?
Porphyria is a category of problems that can be called a cluster of collective problems caused due to the abnormalities leading as to the production of a chemical compound called Heme. Heme is an important substance that is produced by the body. The bone marrow and blood is the most content that holds the Heme.
The name Porphyria is derived from the Greek language. This is a condition that the affected person turns purple. What really turn purple are some body fluids in the patient suffering from a Porphyria attack.
Studies have shown that the condition is an inherited condition and in some cases an acquired disorder. There are certain forms of Porphyria that are believed to be inherited from one of the parents. In some cases if both the parents are infected then there is a likelihood that one gene from each parent may be inherited and the infection / disorder is passed on. There is a high chance that the infection / disorder can be passed on to the children.
There are certain drugs or emotional content that can trigger of a Porphyria attack. And if Porphyria does attack then the chances of it being held are for a minimum of two days and it can last for as much as 4-5 weeks. Porphyria is triggered by barbiturates, birth control pills, certain tranquilizers, sulfa drugs and sedatives. There are also some industrial chemicals that cause Porphyria. Porphyria can also be caused by fasting, drinking alcohol, smoking, exposure to the sun and menstrual hormones.
Major Function of Heme
The designated function of Heme is meant to carry oxygen. Heme is found in bone marrow, blood and the liver.
How is Heme Produced?
Heme is produced by multiple enzymes. There are approximately some eight enzymes in the Heme biosynthetic pathway. Four are them are in the cytosol, the first and the last three being in the mitochondria. If among these eight enzymes, any one of them is found to be abnormal, the production of Heme cannot continue and this leads to the condition of porphyrin. This may build up and then go down in the stool or in the urine.
Types of Porhyria Disorders
The types of Porphyrias disorders can be basically classified into two types. They are cutaneous porphyries and acute porphyries.
This form of porphyries affects the skin. It shows up as blisters with severe itching of the skin. The skin may also swell when exposed to sunlight.
Here the porphyries affect the central nervous system. The symptoms of porphyries manifest itself as pain in the chest, with pain the back, limbs and the abdomen. Though constipation is normally felt when one is suffering from acute porphyries, diarrhea may also be present. Externally one may experience personality changes and mental disorders.
How is Porphyria Diagnosed?
Porphyria is difficult to diagnose. It is checked by conducting a number of tests of the blood, urine and the stool.
In case of a severe attack, the patient may need to be hospitalized for two weeks or so.