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Unusual Diseases: Porphyria

What is porphyria
Porphyria, or rather, porphyria is a whole group of genetic diseases characterized by impaired porphyrin metabolism.

Porphyrins are red pigments (porphyria translated from Greek is purple), from which heme is formed – an integral part of hemoglobin. Porphyrins are synthesized in the liver and bone marrow.

In a patient with porphyria, the level of porphyrins in the blood is increased, they are excreted in the feces and urine and stain them in a reddish color.

This disease is also called vampire disease, as it causes quite definite changes in appearance and behavior.

Due to the increased photosensitivity, the patient’s skin under the influence of the sun turns red and becomes covered with blisters, ulcers, therefore, sufferers of porphyria are forced to lead a nocturnal lifestyle. Their teeth and whites also turn red.

Cartilage and joints are affected, as a result of which the nose, ears are deformed, fingers are bent, and nails fall out.

The skin at the mouth dries and stretches, exposing the pink fangs – a typical grin of a vampire.

True, such strong changes in appearance occur with the congenital, most severe form of porphyria – Gunther’s disease and in its later stages.

The causes of porphyria are gene mutations, the disease is hereditary.

Interesting fact: most cases of congenital porphyria are registered in Transylvania – the region of Romania, which is traditionally considered the birthplace of vampires.

Depending on where the synthesis of porphyrins is impaired, hepatic and erythropoietic porphyria are distinguished (impaired metabolism in the bone marrow).

Erythropoietic forms include Gunther’s disease (congenital erythropoietic porphyria) and erythropoietic protoporphyria.

Gunther’s disease
Very serious and, fortunately, a rare disease – occurs in one out of a million children. The disease manifests itself already in the first year of the baby’s life – the baby’s urine is colored red. Under the influence of the sun (even the infrared spectrum), the skin turns red, itches, becomes covered with a rash. In the future, ulcers and scars form on it.

Over time, cartilage and joints begin to suffer. The teeth also turn red.

There is enhanced growth of hair on the body.

The patient has an enlarged spleen and liver, due to the destruction of red blood cells, hemolytic anemia occurs.

It is impossible to cure Gunter’s disease today. You can only reduce the manifestations of the disease: avoid sunlight, protect the skin from them with clothing, creams.

Protoporphyria
Usually begins in childhood or adolescence, but may occur later. It is characterized by strong photosensitivity.

Symptoms, as a rule, are cutaneous – the skin in open areas under the action of the sun turns red, swells, bubbles form on it – everything, as with a sun allergy. Most often, after some time after the cessation of sun exposure, skin manifestations disappear on their own. Sometimes the vesicles become crusty, after which small scars remain.

Although this disease is also not treated (you can only protect yourself from the sun), but it proceeds much easier than Gunther’s disease, and over time, the condition of patients even improves.

Hepatic porphyria, which include acute intermittent porphyria, hereditary coproporphyria, coproprotoporphyria, are characterized by their own characteristics. As a rule, they begin in adulthood, the central nervous and autonomic systems are affected, gastrointestinal symptoms (diarrhea, abdominal pain, vomiting) are observed.

Acute intermittent porphyria
This disease affects more often girls and young women. The reason is the pathological gene, and predispose to it pregnancy, childbirth, taking certain medications, in particular barbiturates, analgin, tranquilizers, surgical interventions (more precisely, the use of certain drugs for anesthesia).

The main symptom of acute intermittent porphyria is severe abdominal pain, sometimes a delay in menstruation.

Another sign of the disease is damage to the nervous system: pain and movement disorders in the limbs, paresis, seizures with seizures, hallucinations.

In severe cases, with lesions of the nervous system, the disease can lead to the death of the patient, but remission can occur until the next exacerbation.

There is a latent form of the disease (more often it occurs in men), which can manifest itself as an exacerbation under the influence of adverse factors.

The treatment of acute intermittent porphyria is mainly aimed at relieving symptoms. There is no cure for the disease forever, but by eliminating provocative factors, a stable remission can be achieved.

Hereditary hepatic coproporphyria
Also a genetically determined disease. The manifestations are very similar to acute intermittent porphyria, only the main symptom is acute abdominal pain, but neurological disorders: pain in the limbs, motor disorders, cramps – are not so pronounced.

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