Disease of Erdheim - what pathology?

Despite the fact that medicine is developingrapidly, many diseases have not been studied until the end. Some of them were described not so long ago. Therefore, data on some pathologies at this stage is not enough. An example is Erdheim disease. The disease is open only in the XX century. It belongs to rare diseases, so there is no opportunity yet to begin a deep study of this pathology. The causes and pathogenesis of this disorder are not fully known. Nevertheless, there are several theories of the occurrence of the disease. All of them are actively studied. To date, only 500 cases of morbidity are known worldwide. Since pathology is considered rare, it is not always possible to identify.

What is Erdheim disease?

For the first time about this disease became known in1930 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 data that have been collected over the years, pathology is more common in men. In most cases, the disease first appears at the age of 50 years. However, there are several cases of morbidity among children. Symptoms of pathology may be different. The most common clinical manifestations are: bone damage, neurological disorders and diabetes insipidus. Erdheim-Chester's disease (syndrome) is characterized by infiltration of various tissues of the body with non-angerganic histiocytes. These cells belong to the elements 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 infect various organs.

Erdheim disease: symptoms of pathology

The clinical picture of this rare syndrome maybe different. It depends on which organs were affected by histiocytes. In almost all cases, Erdheim disease is manifested by changes in the skeleton, nervous system and skin. Among the symptoms of this pathology can distinguish the following disorders:

• Osteosclerosis of the periosteum.This manifestation is present in most patients. However, in most cases, this symptom does not bother patients. Only a part of people suffering from this disease complains of pain in the places of affection.
• Exophthalmos.This sign of pathology develops due to the defeat of 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 such a symptom as diplopia. Some patients report decreased visual acuity.
• Histiocytic infiltration of the endocrine organs. Manifestations are the development of diabetes insipidus (thirst, polyuria), metabolic disorders.
• Hydro and uteronephrosis. These symptoms develop as a result of clamping histiocytic tissue of the kidneys and ureters.
• The defeat of the cardiovascular system and lungs.
• Xanthelasma (fat deposits) on the eyelids and xanthomas. Neoplasms can be located all over the body.

Diagnosis of Erdheim syndrome

It is difficult to suspect Erdheim-Chester disease due to its rare occurrence and a large number of manifestations that can occur in other pathologies.

Most often you should pay attention to the combinationsymptoms such as exophthalmos and bone pain, as well as the gradual development of thirst and polyuria. Foci of infiltration can be detected by X-ray of the limbs, the skull. Also, if a disease is suspected, a biopsy of the organs in which pathological infiltration is detected is performed. In addition, examination of the fundus, CT and MRI of the retroperitoneal space is performed. At occurrence of skin manifestations, a biopsy of the pathological areas (xanthomas) is performed. You can confirm the diagnosis by genetic examination.

Erdheim disease treatment methods

It is necessary to begin therapy immediately afterdiagnosis: Erdheim disease. Treatment of this pathology at the moment boils down to the appointment of the drug "Interferon". The dose of the drug depends on the size of the infiltration sites. Recently used the drug "Vemurafenib", 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 respiratory system damage are considered unfavorable signs.