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 there is no way 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 being 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'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 Erdheim-Chester syndrome. According to data that has been collected over the years, pathology is more common in men. In most cases, the disease first appears at the age of over 50. Nevertheless, there are several cases of morbidity among children. Symptoms of the pathology can be different. The following clinical manifestations are most often observed: bone damage, neurological disorders and diabetes insipidus. Erdheim-Chester disease (syndrome) is characterized by infiltration of various body tissues by non-allergenic 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 affect various organs.
Erdheim Disease: Symptoms of Pathology
The clinical picture of this rare syndrome may be different. 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:
- Periosteum osteosclerosis. This manifestation is present in most patients. However, in most cases, this symptom does not bother patients. Only a part of the people suffering from this disease complain of pain in the affected areas.
- Exophthalmos. This symptom 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, some patients have such a symptom as diplopia. Some patients report a decrease in visual acuity.
- Histiocytic infiltration of endocrine organs. Manifestations are the development of diabetes insipidus (thirst, polyuria), metabolic disorders.
- Hydro and uteronephrosis. These symptoms develop due to compression of the kidneys and ureters by histiocytic tissue.
- Damage to the cardiovascular system and lungs.
- Xanthelasma (fat deposits) on the eyelids and xanthomas. Neoplasms can be located throughout the body.
Diagnosis of Erdheim Syndrome
Suspecting 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 the organs in which pathological infiltration is detected 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 the pathological sites (xanthoma) is performed. You can confirm the diagnosis with a genetic examination.
Erdheim Disease Treatment Methods
It is necessary to start therapy immediately after diagnosis: Erdheim 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. Recently, the drug "Vemurafenib" is used, which is an inhibitor of mutant proto-oncogen. 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 damage to the respiratory system are considered adverse symptoms.