Table 1

Clinical and molecular characteristics of patients with Erdheim-Chester disease (ECD)

All (n=262)Anakinra (n=31)Targeted therapies (n=117)
Age at diagnosis, years (mean, SD)57.7 (14.5)55.2 (16.4)57.2 (13.8)
Sex (male/female)179/83 (2.2)18/13 (1.4)74/43 (1.7)
BRAFV600E148/228 (65%)16/24 (67%)95/116 (82%)
ECD involvements
 Long bones206 (79%)27 (87%)101 (86%)
 Cardiac133 (51%)15 (48%)83 (71%)
 Aorta159 (61%)17 (55%)85 (73%)
 CNS96 (37%)8 (26%)56 (48%)
 Xanthelasma58 (22%)7 (23%)30 (26%)
 Retroperitoneal fibrosis164 (63%)20 (65%)84 (72%)
 Lung93 (35%)9 (29%)46 (39%)
Treatments
 IFN-alpha164 (63%)25 (81%)63 (54%)
 Anakinra31 (12%)31 (100%)11 (9%)
 Targeted therapies117 (45%)11 (35%)117 (100%)
Deaths85 (32%)10 (12%)25 (21%)
Median survival from diagnosis (months)139199Undefined
  • CNS, central nervous system; IFN, interferon.