Despite the fact that medicine is developing rapidly, many diseases have not yet been fully studied. Some of them were described not so long ago. Therefore, there is little data on some pathologies at this stage. An example is Erdheim's disease. The disease was discovered only in the XX century. It belongs to rare diseases, so it is not yet possible to start a deep study of this pathology. The causes and pathogenesis of this disorder are not completely known. However, there are several theories of the origin of the disease. All of them are being actively studied. To date, only 500 cases of morbidity are known worldwide. Since the pathology is considered rare, it is not always possible to identify it.
What is Erdheim's disease?
For the first time this disease became known in 1930. It was discovered by scientists William Chester and his teacher, Jacob Erdheim. They worked together to study this pathology. Therefore, the disease is often called Erdheim-Chester syndrome. According to the data that has been collected over the years, the pathology is more common in men. In most cases, the disease first manifests itself over the age of 50 years. However, there isseveral cases of morbidity among children. Symptoms of pathology can be different. The most common clinical manifestations are bone damage, neurological disorders, and diabetes insipidus. Erdheim-Chester disease (syndrome) is characterized by infiltration of various body tissues by non-Langerhans histiocytes. These cells are part of the immune system. Normally, they perform a protective function. But with this pathology, unmotivated reproduction of histiocytes occurs, as a result of which they affect various organs.
Erdheim's disease: symptoms of pathology
The clinical presentation of this rare syndrome varies. It depends on which organs were affected by histiocytes. In almost all cases, Erdheim's disease is manifested by changes in the skeleton, nervous system and skin. Among the symptoms of this pathology, the following disorders can be distinguished:
- Osteosclerosis of the periosteum. This manifestation is present in most patients. However, in most cases, this symptom does not bother patients. Only a fraction of people suffering from this disease complain of pain in the affected area.
- Exophthalmos. This sign of pathology develops as a result of damage to the space behind the eyeball. Also, the growth of histiocytes can cause compression of the optic nerve and muscles. Therefore, in some patients there is a symptom such as diplopia. Some patients report decreased visual acuity.
- Histiocytic infiltration of endocrineorgans. Manifestations are the development of diabetes insipidus (thirst, polyuria), metabolic disorders.
- Hydro- and uteronephrosis. These symptoms develop due to clamping of the histiocytic tissue of the kidneys and ureters.
- Defeat the cardiovascular system and lungs.
- Xanthelasmas (fat deposits) on the eyelids and xanthomas. Neoplasms can be located throughout the body.
Diagnosis of Erdheim's syndrome
Suspicion of Erdheim-Chester disease can be difficult due to its rare occurrence and the large number of manifestations that can occur with other pathologies.
Most often, attention should be paid to a combination of symptoms such as exophthalmos and bone pain, as well as the gradual development of thirst and polyuria. Foci of infiltration can be detected by radiography of the extremities, skull. Also, if this disease is suspected, a biopsy of organs in which pathological infiltration is found is performed. In addition, an examination of the fundus, CT and MRI of the retroperitoneal space is performed. If skin manifestations occur, a biopsy of pathological areas (xanthoma) is performed. You can confirm the diagnosis with a genetic examination.
Methods of treating Erdheim's disease
It is necessary to start therapy immediately after the diagnosis: Erdheim's disease. Treatment of this pathology at the moment is reduced to the appointment of the drug "Interferon". The dose of the drug depends on the size of the foci of infiltration. Recentlythe drug "Vemurafenib" is used, which is an inhibitor of the mutant proto-oncogene. In addition, depending on the clinical picture, symptomatic therapy is carried out. The prognosis of the disease depends on the speed of its course, manifestations. Exophthalmos and damage to the respiratory system are considered unfavorable signs.
