Secrets of porphyria, or why English kings were afraid of the sun

This disease causes photophobia and is exacerbated by the sun, leading to blanching of the skin, its thinning and cracking. Acute porphyria suffered from the English king George the Third, who avoided sunlight all his life, the Scottish Queen Mary Stuart and the last Russian Empress Alexandra Feodorovna had it. In the Middle Ages, patients with porphyria were considered vampires, because they burst the mucous membrane of the inside of the lips, the gums bled and the roots of the teeth were exposed. Porphyria is especially common in the countries of Northern Europe, which is probably why the stories of ghouls have come down to us mainly from British, Scottish and Swedish sources. Today, doctors are quite well aware of this difficult disease, which causes considerable suffering to the patient.

 

Symptoms of porphyria and the nature of the course of the disease

Porphyria develops due to a hereditary disorder in pigment metabolism, which causes an increased content of porphyrins in the blood. The essence of the problem is that the body is not able to synthesize heme – the non-protein part of hemoglobin, which is responsible for the transfer of iron, but at the same time accumulates intermediate products of its synthesis, which turn into porphyrins in the light. When interacting with atmospheric oxygen, porphyrins form active free radicals that damage skin cells. The skin damaged by radicals darkens, becomes very thin and fragile, and bursts under the influence of the sun. Over time, the patient's skin becomes covered with ulcers and scars that damage cartilage and tendons. That is why patients with porphyria often have crooked fingers and ulcerated faces and eyelids. As the suffering intensifies, when sunlight hits the skin. During the day, patients experience lethargy and loss of energy, and at night they are able to lead a more active lifestyle.

Porphyria is classified according to where hemoglobin synthesis errors occur – in the liver or bone marrow. The disease is inherited, although it does not necessarily manifest itself in every member of the family who inherited it. The following factors can provoke the transition of latent porphyria into an acute illness:

• viral and bacterial infections (especially hepatitis);
• fasting, excessive alcohol intake;
• taking certain medications (antibiotics, sulfonamides, NSAIDs, barbiturates);
• hormonal fluctuations (puberty, pregnancy);
• excessive insolation.

The first signs of porphyria are usually swelling of the skin, redness and itching in places exposed to sunlight, then blisters appear there and in their place – ulcers. Sometimes the picture is supplemented by the formation of hemorrhages on the skin. Patients often do not associate the manifestations of the disease with insolation, since they do not develop immediately. At the reception, they complain of fragility of the skin with the slightest injury, especially on the back of the hands, as well as the appearance of tense blisters and erosions on the face, feet, and back. Sclerotic thickened plaques, milia may appear on the face and chest.

 Characteristic symptoms of porphyria in a patient

• pigmentation and hypertrichosis in open skin patches;
• fragility of the skin and its slight vulnerability;
• nail deformity;
• redness of urine;
• contracture of small joints.

Polyneuritis, abdominal pain, mental disorders, high blood pressure can serve as additional symptoms that help the doctor not make a mistake in the diagnosis.

 

Possible treatments for patients with porphyria

Modern medicine does not yet have the ability to cure porphyria, but has a sufficient arsenal of tools designed to alleviate the patient's condition and achieve an acceptable quality of life for him. So, a good effect in some cases gives splenectomy, which makes it possible to reduce the amount of porphyrins released and reduce photosensitivity. Reduces the release of porphyrins by intravenous administration of a concentrated glucose solution, as well as taking delagil, which binds to skin porphyrins and excretes them in the urine. If drugs are not effective enough, plasmapheresis may be prescribed.

It should be remembered that analgin and tranquilizers should not be prescribed for pain syndrome, as they can cause an exacerbation of the disease. Patients with porphyria can be recommended chlorpromazine. If necessary, prescribed therapy aimed at lowering blood pressure. The patient is strongly advised to give up alcohol and avoid sun exposure.