Erdheim-Chester disease (sclerosing skeletal histiocytosis) ICD-10: C96.1

Definition

Erdheim-Chester's disease is a non-Langerhans cell histiocytosis which is also called multifocal osteosclerosis and is a consequence of disease in cells in immune system (histiocytes and tissuemacrophages)

Occurrence

Rare disease (about 500 described cases). Described by Chester 1930.

• Men and women of all ages can get the disease, but it is more common among men.
• The average age at the onset of illness is 52 years
• Erdheim-Chester disease is defined as one rare disease

Symptoms

Symptom incidence (%)

• Skeletal pain 50
• Peri-aortic infiltration         60
• 'Coated aorta'                    30
• Pericardial affection 45
• Eksoftalmos                       27
• Diabetes insipidus             27
• Xantelasmer                      19
• 'Hairy Kidney'                    ND
• CNS affection 15–25
• Lung affection 22
• Mortality 60-26

Diagnosis

• Skeletal pain, most often in sub-extremities
• Osteosclerosis on X-rays of the long tube bones
• Maxillary sinus (jaw sinuses) may show signs of disease with densifications and skeletal changes
• CNS: Headache
  • MRI examination of the brain shows typical signal changes in the dura. The changes may be similar meningioma
• Exophthalmos and vision changes
• Biopsy: Erdheim-Chester cells express histiocyte marker CD68, but unlike Langerhans histiocytosis, which do not express CD1a or S100

Complications

• Skeleton (95%):
  • Pain in arms and legs
    • Osteosclerosis detected by X-ray / CT / MRI / Scintigraphy of skeleton (long tube bones)
• Sinuses: Changes in the maxillary sinus
• The Heart (50%)
  • Heart valve (insufficiency)
  • Rhythm Disturbances
  • Peri-aortic fibrotic infiltration with stenoses also in coronary arteries
    • May cause angina and heart attack
    • Cardiomyopathy, most commonly in the right part of the heart
• Lungs: (25-50%)
  • Pleural effusion
  • Parenchyma opacities (milk glass, fibrosis, cysts, nodules)
• Retroperitoneum
  • Hydronephrosis
• CNS
  • Headache
  • Loss of libido
  • Cerebellar: ataxia
  • Pituitary gland: central diabetes insipitus with extreme thirst
  • Dura: infiltration (meningitis)

Biopsy / Histology

Bone marrow biopsy shows histiocyte proliferation by staining CD68 + and CD1a-. Xanthomatous or xanthiogranulomatous infiltration of histiocytes surrounded by fibrosis.

Incorrect diagnosis? (Similar diseases / differential diagnoses)

• Other hematological diseases affecting histocytes (Langerhan's histocytosis) and dendritic cells
• Hemophagocytic lympho-histiocytosis (HLH) / MAS
• Metastases and other cancer diseases
• Paget's disease og POEMS

Treatment

• Surgical removal, high dose steroids (prednisolone), cyclosporin, interferon alpha, chemotherapy, radiation therapy

Prognosis:

• Serious illness. Data from 2005 showed 5's survival 50%

Literature

• Midtvedt O, 2014
• Diamond EL, 2014 (Guidelines)
• Mazoor RD, 2013
• Olsen PAS, 2018
• Grans Compendium for Rheumatology

---

• Bindevevssykdommer.no
• Vaskulitt.no
• revmakompendium.no