Table 1.

Clinical presentation and treatment of 60 NIH patients with Erdheim-Chester disease

Case-sexAge (y) at:Presenting findingTreatment
NIH visitFirst findingsDiagnosis
1-F201618Knee pain, memory lossPEG-IFN
2-F302528Scalp nodules, bone painCladribine
3-F332628Ataxia, blindnessCladribine
4-F332232Dizziness, weaknessPEG-IFN
5-M343333Hypopituitarism
6-M383637Testicular painAnakinra
7-M381837DIPEG-IFN
8-M393739DI, hypogonadismIFN
9-M422436DI, bone painIFN
10-M423242DI, hypogonadismPEG-IFN
11-M443234DIIFN
12-M454244Bone painVemurafenib
13-M454141Bone pain, Horner syndromeDasatinib
14-M453543Pain, fatigue, depressionTocilizumab
15-F462644DI, seizuresCladribine
16-M464343Pain, fatigue, weaknessImatinib
17-M472636ProptosisSteroids
18-M474047PapilledemaDabrafenib, trametinib
19-M474344Liver and respiratory failureIFN
20-F484647SeizureIFN
21-F494648WeaknessPEG-IFN
22-M493444DI, ataxiaPEG-IFN
23-M504046DI, fatigue
24-F505050Skin nodules, lymph nodes6-MP + Vincristine
25-M504649Bone painPEG-IFN
26-M504749Abdominal mass
27-M514748DI, hypogonadism
28-M514548Lung surgery, leg painIFN
29-M515051Bone pain, fatigueIFN
30-M525151MalaiseVemurafenib
31-M534752DIAnakinra
32-M545152Testicular and bone painIFN
33-M564051Fatigue, painVemurafenib
34-M565054Bone lesion, pain
35-M574650Pain, fatigueIFN
36-F575353Cardiac tamponade, skin rashCladribine
37-F574444Periorbital swellingMethotrexate
38-M585557Pain, fatigue
39-M584857DI, hypogonadismCyclophosphamide
40-F584758Skin lesions and rash
41-M594649DIImatinib
42-M595758SinusitisVemurafenib
43-M594857DIPEG-IFN
44-F605559Renal artery stenosis, HTAnakinra
45-M615960Skin nodulesLCH chemotherapy
46-M615961Bone painIFN
47-F646264Pericardial effusionCladribine
48-F646063SinusitisAnakinra
49-M646060Malaise
50-F646161Abdominal massVemurafenib
51-M655354Ataxia, proptosisAnakinra
52-M653357DIPEG-IFN
53-M656464Malaise
54-M666464Cerebellar syndrome
55-M676161NoneAnakinra
56-M686465Blindness and right-sided weaknessCyclophosphamide
57-M696868Pain, fatigue, ataxiaMethotrexate
58-M696768Fatigue, kidney lesionMethotrexate
59-M735169DIAnakinra
60-M747374Incidental imaging findings
  • Of the 60 patients included, 51 were white, 4 were Hispanic, 3 were Middle Eastern, 1 was African American, and 1 was Asian.

  • DI, diabetes insipidus; F, female; IFN, interferon; M, male; PEG-IFN, pegylated interferon.