Porphyria


Porphyria

Description of porphyria

Porphyria represent a very rare metabolic disorder of red blood cells, which in most cases inborn. Excluded but neither subsequent disease by this disease. The name of the disease originated from the Greek word “porphyrus” – purple. Porphyria cause disruption formation haem porphyrin molecule and atom of iron which is instead stored in the body synthesis. A characteristic manifestation of the disease is red-colored urine. This disorder manifests heme synthesis further predominantly hypersensitivity skin of the patient to light reddening teeth and gingival recession.They probably also in earlier times stemmed rumors about vampires, because patients do not rely on sunlight, which causes them pain and cracking of skin. Thanks to receding gums are also evident throughout the fangs, which needs people about vampires only strengthened the sick had called. Vampire teeth.

Cause and risk factors of porphyria

As mentioned above, porphyria disrupt the formation of heme. The formation of heme consists of several steps, involving the use of different enzymes. When this process is disrupted, the body produces excessive amounts of porphyrin, which is able to absorb, and thus it must be stored in the organism. Enzymes used in the formation of heme is exactly eight. According to the fault of each of them can be porphyria divided into eight types. The most risk factor for ill sunlight, which is the skin of the patient adverse effects. Since this disorder does not occur only inherit, but in rare cases it can be even gain, so we risk factors include eg. Lead poisoning. Risk of disease porphyria emerges also in diseases of the liver or bile. For patients poses a threat and ingestion of garlic, since the substances contained in it, can cause poisoning patient, in some cases, death.

types of porphyria

As mentioned above, it is possible according to the particular disorder porphyria enzyme divided into eight types. Furthermore porphyria but we can be divided according to the place in the body where the excess porphyrins form or by symptoms (e.g. in skin, neurological and psychiatric) etc .. Porphyria can also be divided into primary, which are congenital and secondary porphyria, which are obtained through the course of life. Form of porphyria, which is the most common latecutaneous porphyria, or PCT, which operates mainly skin problems, but also causes sensitivity to light. In this case, the porphyrins accumulate in the liver, and thus can cause cirrhosis and even even liver tumor. Another form of porphyria is then congenital erythropoietic porphyria (CEP, Günther porphyria), which is similar to the previous type of skin symptoms and sensitivity to light. A typical feature of this form is significant decay blood cells (hemolytic anemia), scar tissue and cornea, leading to blindness. The third type of porphyria acute porphyria belonging to theerythropoietic protoporphyrie (EPP). It’s the type of porphyria discovered only recently, and between porphyria are among those rarer. To illustrate the Czech Republic reported only four cases of this porphyria. The opposite of chronic porphyria is acute porphyria. These include acuteintermittent porphyria (AIP), which is the deadliest form of the disease, as well as hereditary coproporphyria (HK) and porphyria variegata (PV). Acute porphyria can include moreplumboporfyrie (Dossova porphyria), should be noted that this type of porphyria was still with us at anyone diagnosed and it is very rare. It should be noted that acute porphyria threaten more women, while, conversely, suffer from chronic back more men.

prevention of porphyria

Since in most cases the disease genetically determined and effective prevention exists.

The symptoms of porphyria

Porphyria is manifested primarily through skin reactions. The skin of the patient is sensitive to sunlight, when exposed to sunlight, the skin quickly dried and cracked. Other cutaneous manifestations include frequent itching. The skin of the patient is unfortunately sensitive only to the sun, but also to UV radiation, which operates unpleasant pain patients. A typical symptom of porphyria are heavily healing blisters. The urine of the patient’s teeth as well as its colored red.Other symptoms of this disorder include hemolysis or blood decay, constipation and receding gums.They can also occur mental or nervous disorder.

treatment of porphyria

Treatment of porphyria is very complicated, because if this disorder is her success in humans and diagnose. E.g. symptoms similar type of porphyria called the AIP (acute intermittent porphyria) has an acute abdomen, which manifests pains and stomach cramps, vomiting and constipation. For many patients, this type of porphyria was diagnosed in time and thus they undergo a lot of unnecessary operations, which did not help the sick. Often they are also ill considered mentally ill and diagnosed as schizophrenic individuals. Awareness of the disease is in fact only a small “ordinary people” but also among doctors. Treatment of individual types of porphyria are very different from each other.So maybe PCT is treated mainly venipuncture. The aim of this treatment is to reduce the level of porphyrin and iron in the organism. Another treatment option is by PCT treatment chloroquine(antimalarial) are however not effective for each. The patient should also pay attention to proper diet and abstinence. In contrast to treatment EPP used beta-carotene, which has beneficial effects on the skin of the patient. Treatment with beta-carotene supplements with cholestyramine, which has the task of freeing the body of porphyrins. Sometimes the treatment of this type is needed and liver transplantation. In principle can be summarized as porphyria treatment so that the patient should pay attention to proper diet (vitamins, abstinence, avoiding garlic …) accompanied by appropriate medications. Furthermore, he should watch sick to sunlight and UV radiation. Although porphyria represent yet incurable diseases thrive medicine often suppress symptoms of disorders and sick and could in principle continue to lead their lives.

complications porphyria

Complications of the disease varies according to its type. They can be eg. Cirrhosis or liver tumor, as well as constipation, abdominal cramps or vomiting.

Other names: Vampire disease, porphyria

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