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Table 2 Profile of the ECD patient

From: Erdheim-Chester Disease: a comprehensive review of the literature

Age at onset 5th - 7th decade of life Arnaud et al. [1]
Presenting symptoms Diabetes insipidus, bone pain and exophthalmos Veyssier-Belot [5]
Disease distribution Skeleton: Long bones osteosclerosis (bone pain) Dion et al. [30]
Cranium & CNS: Drier et al. [10]
Pituitary defects (diabetes insipidus, panhypopituitirism)
Retro-orbital lesions (exophthalmos)
Cerebellar lesions (ataxia)
Cardiovascular: Haroche et al. [54]
Pericardial infiltration / effusion
Periaortic sheathing ("coated aorta")
Myocardial infiltration / right atrial tumor
Pulmonary: Arnaud et al. [26]
Interstitial lung disease
Pleural effusion
Renal & Retroperitoneal: Haroche et al. [2]
Perirenal infiltration ("hairy kidney")
Post renal obstruction (hydronephrosis)
Renal artery stenosis (renovascular hypertension)
Cutaneous: Periorbital xanthelasmae Veyssier-Belot [5]
Imaging 99mTc Bone Scintigraphy Gotthardt et al. [76]
PET/CT Arnaud et al. [77]
Treatment 1st line alternatives: Arnaud et al. [1]
Interferon-α / Peginterferon alfa-2a Hervier et al. [92]
2nd line alternatives:  
Cladribine* Myra et al. [93], Adam et al. [103]
Vemurafenib Haroche et al. [101]
Anakinra Aouba et al. [88]
Infliximab Dagna et al. [85]
Prognosis 1 year survival: 96% Arnaud et al. [1]
5 year survival: 68%
  1. (*) may be advocated as a first line treatment modality among some specialists.