Disease of Erdheim - what pathology?

Despite the fact that medicine is developing rapidly, many diseases have not yet been studied to 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's disease. The illness is only discovered in the 20th century. It belongs to rare diseases, so there is no way to start a deep study of this pathology. The causes and pathogenesis of this disorder are not completely known. Nevertheless, there are several theories of the onset of the disease. All of them are actively studied. To date, there are only 500 cases of incidence in the world. Since pathology is considered rare, it is not always possible to identify it.

What is Erdheim's disease?

For the first time about this disease it 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 the Erdheim-Chester syndrome. According to the data collected over the years, pathology is more common in men. In most cases, the ailment first appears at the age of over 50 years. Nevertheless, there are several cases of morbidity among children. Symptoms of pathology can be different. The most common clinical manifestations are: bone damage, neurological disorders and diabetes insipidus. Illness (syndrome) of Erdheim-Chester is characterized by infiltration of various tissues of the body with non-lergergant histiocytes. These cells belong to the elements of the immune system. Normally, they perform a protective function. But with this pathology there is an unmotivated multiplication of histiocytes, as a result of which they affect various organs.

Disease of Erdheim: symptoms of pathology

The clinical picture of this rare syndrome can be different. It depends on what 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 identified:

• Osteosclerosis of the periosteum. This manifestation is present in most patients. Nevertheless, in most cases this symptom does not bother patients. Only a part of people suffering from this disease complains of pain in the lesions.
• Exophthalmos. This sign of pathology develops as a result of the damage to the space behind the eyeball. Also, the proliferation of histiocytes can cause compression of the optic nerve and muscles. Therefore, a symptom such as diplopia is observed in some patients. Some patients report decreased visual acuity.
• Histiocytic infiltration of endocrine organs. Manifestations are the development of diabetes insipidus (thirst, polyuria), metabolic disorders.
• Hydro- and uteronephrosis. These symptoms develop as a result of clamping the kidneys and ureters with histiocytic tissue.
• The defeat of the cardiovascular system and lungs.
• Xanthelasma (fat deposits) on the eyelids and xanthomas. Neoplasms can be located throughout the body.

Diagnosis of the syndrome of Erdheim

It is difficult to suspect Erdheim-Chester disease because of its rare occurrence and a large number of manifestations that can occur in 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 limbs, skulls. Also, if there is a suspicion of this disease, a biopsy of the organs in which pathological infiltration is detected is performed. In addition, the examination of the fundus, CT and MRI of the retroperitoneal space is performed . When skin manifestations occur, a biopsy of pathological sites is performed (xantham). Confirm the diagnosis can be done by genetic examination.

Methods of treatment of Erdheim's disease

To begin therapy it is necessary right 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 medication depends on the size of the infiltration sites. Recently, the drug "Vemurafenib", which is an inhibitor of a mutant protooncogene, is used. In addition, depending on the clinical picture, symptomatic therapy is performed. The prognosis of the disease depends on the speed of its course, manifestations. Exophthalmos and the defeat of the respiratory system are considered unfavorable symptoms.