
Erdheim-Chester disease. MRI of the kidney area showing "Hairy Kidney" (uneven kidney capsules). Gastroenterology Unit, Southern District Health Board, Dunedin, New Zealand. CC BY 2.0
Erdheim-Chester disease (sclerosing skeletal histiocytosis) ICD-10: C96.1
Contents
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)
- Pain in arms and legs
- 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
- 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