Erdheim-Chester Disease

Erdheim-Chester disease (ECD) is a rare non-Langerhans cell, non-familial multisystemic histiocytosis, with widespread manifestations and of highly variable severity. The most common presenting symptom is bone pain.

Epidemiology

Erdheim-Chester disease is a rare, non-inherited disease of middle age with a slight male predominance .

Clinical presentation

Patients may present with a variety of symptoms, ranging from focal neurological deficits to multiorgan failure . The most common presenting symptom is bone pain. Patients may also present with focal neurological signs, exophthalmos, retroperitoneal fibrosis, diabetes insipidus, and dyspnea due to extraskeletal involvement of these systems.

Pathology

Erdheim-Chester disease is a systemic lipogranulomatous disorder with infiltration by lipid-laden histiocytes (foamy macrophages), Touton giant cells and a variable amount of background fibrosis . In contrast to Langerhans cell histiocytosis (LCH), no S-100 nor CD1 are detected , but CD68 is positive .

Both Erdheim-Chester disease and LCH may coexist, and cases of double infiltration have been reported .

Radiographic features

Musculoskeletal involvement is most common, with multifocal extraskeletal involvement seen in 30-50% of patients .

Skeletal involvement
  • bilateral, symmetric metaphyseal and diaphyseal sclerosis
  • increased uptake on Tc-MDP bone scan
  • cortical thickening
Visceral
Intracranial

Intracranial involvement of the dura, brain and pituitary are rare :

  • meninges
    • dural accumulations may mimic meningiomas, with enhancing soft tissue masses
    • T2 signal characteristics are somewhat different, as the accumulations in Erdheim-Chester disease are hypointense
  • brain: usually affecting the hypothalamus ; intraparenchymal masses in ECD appear non-specific
  • pituitary infundibulum: presenting with diabetes insipidus

Treatment and prognosis

Steroids, radiotherapy and chemotherapy have all been used but with little effect, with some patients relentlessly progressing . Pulmonary fibrosis and cardiac failure are the most common causes of death . Given the small volume of published data, mortality rates are sketchy but may be as high as 60% .

Surgical or percutaneous intervention for hydronephrosis, orbital or meningeal involvement is useful for symptomatic local disease.

History and etymology

It was first described in 1930 as "lipid granulomatosis" by Jakob Erdheim (1874-1937), an Austrian pathologist, and William Chester (1903–1974), an American pathologist .

Differential diagnosis

The differential diagnosis for Erdheim-Chester disease is very dependent on location although some entities will be considerations in most locations (e.g. lymphoma).

Intracranial

The differential for intracranial involvement is that of other causes of dural masses including:

Perinephric

See also