Erdheim–Chester disease

Maladie de Chester-Erdheim

Erdheim–Chester disease (ECD) is a rare non-Langerhans cell histiocytosis characterized by the abnormal multiplication of histiocytes, a type of white blood cell. This disease was first described by the Austrian pathologist Jakob Erdheim and the American pathologist William Chester in 1930.

Presentation

ECD can affect multiple organ systems, leading to a wide range of symptoms. Commonly affected areas include the long bones, cardiovascular system, central nervous system, kidneys, and retroperitoneum. Patients may present with bone pain, diabetes insipidus, neurological deficits, and cardiovascular symptoms such as pericardial effusion.

Pathophysiology

The exact cause of ECD is unknown, but it is believed to involve a clonal proliferation of histiocytes. These cells infiltrate various tissues and organs, leading to fibrosis and organ dysfunction. Mutations in the BRAF gene, particularly the BRAF V600E mutation, have been identified in a significant number of ECD cases.

Diagnosis

Diagnosis of ECD is challenging due to its rarity and the variability of its symptoms. It often requires a combination of imaging studies, biopsy of affected tissues, and genetic testing for mutations such as BRAF V600E. X-ray and MRI are commonly used to identify characteristic bone lesions, while CT scan and PET scan can help assess the extent of organ involvement.

Treatment

There is no standard treatment for ECD, and management often involves a multidisciplinary approach. Treatment options may include:

• Interferon-alpha
• Targeted therapy with BRAF inhibitors (e.g., vemurafenib)
• Chemotherapy
• Radiation therapy
• Corticosteroids

Prognosis

The prognosis for ECD varies widely depending on the extent of organ involvement and response to treatment. Some patients may experience a chronic course with relatively stable disease, while others may have a more aggressive progression.

Related Pages

• Histiocytosis
• Langerhans cell histiocytosis
• BRAF gene
• Jakob Erdheim
• William Chester