Causes of Gunther’s disease
Gunther’s disease is a rare hereditary disease named after the German doctor Hans Gunther who described it. He was researching this mysterious disease in the Transylvania region, in 1911. The second name of this disease is congenital erythropoietic porphyria. This name is given to the disease due to the fact that the disease is characterized by an increase in the content of a substance in the cells of the body – porphyrin. Porphyrin is a pigment substance that is part of hemoglobin, which gives the blood a characteristic red color.
Erythropoietic porphyria is congenital and hereditary, transmitted by an autosomal recessive type. The cause is genetic mutations. It is generally believed that Gunther’s disease may be a consequence of incest (closely related incest), since it is most often observed in isolated settlements. Mutations lead to an increased content of pigment, sometimes its amount in a sick person exceeds the norm in red blood cells by several tens or even hundreds of times. Also, in the presence of congenital erythropoietic porphyria, there is a possibility of developing various diseases of the cardiovascular and hematopoietic systems. The most common concomitant disease to Gunther’s disease is anemia.
Symptoms of Gunther’s disease
Since the disease is congenital, its first signs can be detected in a child at an early age, most often already in the first year of life. The disease is popularly known as “vampire disease” – because of its specific appearance and extremely acute photosensitivity (fear of sunlight in the patient). Most likely, this disease served as the prototype of many mythological creatures, primarily vampires. For a long time Gunther’s disease was considered a curse, and the patients themselves were persecuted and destroyed as monsters. The manifestations of Gunther ‘s disease include:
hypertrichosis (abundant hair growth on the face and body);
increased pigmentation of the skin;
photosensitivity, up to the occurrence of burns;
erythrodontia (staining of teeth in brown or red);
numerous erosions and ulcers on the skin;
secretions (urine, feces, mucous secretions) are colored red;
enlargement of the liver, spleen;
Diagnosis of Gunther’s disease
Since the disease is an extremely rare pathology, there is no single approach to its diagnosis and treatment. The diagnosis of “congenital erythropoietic porphyria” can be made on the basis of patient complaints, as well as after a blood serum analysis, the result of which is aimed at determining the content of porphyrin levels. Patients with Gunther’s disease should be registered with a number of specialists, primarily a hematologist.
Treatment of Gunther’s disease
Unfortunately, there is no single approach to the treatment of this disease. Often, children suffering from Gunther’s disease die in early childhood before they reach puberty. If the disease is mild, it is highly likely that the first symptoms will appear at the age of 15-20 years. All types of supportive therapy are reduced to symptomatic treatment and relief of the sufferings of the patient.
At the moment, modern medicine offers only one treatment option for Gunther’s disease – a donor bone marrow transplant. However, such a method is extremely complex, and there are great difficulties with the selection of a donor, since the possibility of using the bone marrow of close relatives, with a high probability of suffering from the same ailment, is excluded. And yet, the performed transplant does not give an absolute guarantee of cure, besides, it has not yet been possible to prove its effectiveness by experiment.
