Characteristics of the 3 ECD patients.
| . | Patient 1 (Female, 46 y old, 65 kg) . | Patient 2 (Male, 55 y old, 94 kg) . | Patient 3 (Male, 41 y old, 65 kg) . |
|---|---|---|---|
| Associated disease(s) | Psychosis and severe depression | Obstructive sleep apnea syndrome | Any disease |
| ECD duration | 7 y before starting anakinra | 9 y before starting anakinra | 5 y |
| Clinical and biological manifestations at diagnosis | Recurrent hectic fever, asthenia, leg and lumbar pains, eyelids xanthelasma, thickening, and permanently increased CRP (80-375 mg/L; n < 5 mg/L) | Episodic fevers, asthenia, leg and lumbar pains, and renovascular hypertension | Recurrent and transient diaphyso-metaphyseal pains in the legs |
| Permanently increased CRP (20-40 mg/L), increased serum creatinine level (156μM) | Episodic slight increases of CRP | ||
| Radiological findings at diagnosis | X-ray: tibial inferior metaphyseal pseudo-infarcts | Urography, ultrasonography, computed tomography scan, renal MRI: retroperitoneal fibroinflammatory mass with right ureteral stenosis and hydronephrosis | X-ray: tibial superior metaphyseal condensation and diffuse cortical thickening |
| Computed tomography scan: retroperitoneal and periureteral fibrosis with bilateral hydronephrosis and mesenteric lymph nodes | Arteriography: periarterial lesion with stenosis of the right renal artery | Scintigraphy: tibial increased uptake | |
| Scintigraphy: widespread areas of increased uptake (skull, legs, pelvis bone; liver, lacrimal glands, eyelids, and retroperitoneal space) | Scintigraphy: increased radionuclide uptake of tibias and distal portion of femurs and retroperitoneal spaces | Computed tomography scan: normal | |
| Cerebral MRI: normal | Aorta angio-MRI: abdominal coated aorta | ||
| Positive biopsy | Retroperitoneal tissue and lymph node | Periureteral infiltrate | Tibial metaphysis |
| Treatments and outcomes | Corticosteroids and zoledronic acid: not effective | Corticosteroids: not effective | No specific treatment (stable and limited disease) but episodic prescription of indomethacin |
| Bilateral ureteral stenting | Bilateral ureteral stenting and bilateral renal artery angioplasty, but consequent non-functional right kidney | ||
| Cladribine (2 monthly courses): regression of eyelid involvement and disappearance of mesenteric lymph nodes, regression of skeleton scintigraphic uptake, but persistent retroperitoneal and periureteral fibrosis with bilateral hydronephrosis; severe thrombocytopenia | IFN-α (for 5 y): good response on periureteral infiltration, allowing removal of ureteral stents after 3 mo, but persistent flu-like signs, asthenia; mild mood disturbances | ||
| Interval between last treatment and initiation of anakinra (ECD status) | 13 mo after stopping cladribine (constitutional symptoms, eyelids thickening, persistent retroperitoneal and periureteral fibrosis with bilateral hydronephrosis and aggravation of legs, and pelvis bone involvement on scintigraphy) | 2 y after stopping IFN-α (reappearance of all manifestations, requiring left ureteral stenting) | No treatment with Anakinra |
| . | Patient 1 (Female, 46 y old, 65 kg) . | Patient 2 (Male, 55 y old, 94 kg) . | Patient 3 (Male, 41 y old, 65 kg) . |
|---|---|---|---|
| Associated disease(s) | Psychosis and severe depression | Obstructive sleep apnea syndrome | Any disease |
| ECD duration | 7 y before starting anakinra | 9 y before starting anakinra | 5 y |
| Clinical and biological manifestations at diagnosis | Recurrent hectic fever, asthenia, leg and lumbar pains, eyelids xanthelasma, thickening, and permanently increased CRP (80-375 mg/L; n < 5 mg/L) | Episodic fevers, asthenia, leg and lumbar pains, and renovascular hypertension | Recurrent and transient diaphyso-metaphyseal pains in the legs |
| Permanently increased CRP (20-40 mg/L), increased serum creatinine level (156μM) | Episodic slight increases of CRP | ||
| Radiological findings at diagnosis | X-ray: tibial inferior metaphyseal pseudo-infarcts | Urography, ultrasonography, computed tomography scan, renal MRI: retroperitoneal fibroinflammatory mass with right ureteral stenosis and hydronephrosis | X-ray: tibial superior metaphyseal condensation and diffuse cortical thickening |
| Computed tomography scan: retroperitoneal and periureteral fibrosis with bilateral hydronephrosis and mesenteric lymph nodes | Arteriography: periarterial lesion with stenosis of the right renal artery | Scintigraphy: tibial increased uptake | |
| Scintigraphy: widespread areas of increased uptake (skull, legs, pelvis bone; liver, lacrimal glands, eyelids, and retroperitoneal space) | Scintigraphy: increased radionuclide uptake of tibias and distal portion of femurs and retroperitoneal spaces | Computed tomography scan: normal | |
| Cerebral MRI: normal | Aorta angio-MRI: abdominal coated aorta | ||
| Positive biopsy | Retroperitoneal tissue and lymph node | Periureteral infiltrate | Tibial metaphysis |
| Treatments and outcomes | Corticosteroids and zoledronic acid: not effective | Corticosteroids: not effective | No specific treatment (stable and limited disease) but episodic prescription of indomethacin |
| Bilateral ureteral stenting | Bilateral ureteral stenting and bilateral renal artery angioplasty, but consequent non-functional right kidney | ||
| Cladribine (2 monthly courses): regression of eyelid involvement and disappearance of mesenteric lymph nodes, regression of skeleton scintigraphic uptake, but persistent retroperitoneal and periureteral fibrosis with bilateral hydronephrosis; severe thrombocytopenia | IFN-α (for 5 y): good response on periureteral infiltration, allowing removal of ureteral stents after 3 mo, but persistent flu-like signs, asthenia; mild mood disturbances | ||
| Interval between last treatment and initiation of anakinra (ECD status) | 13 mo after stopping cladribine (constitutional symptoms, eyelids thickening, persistent retroperitoneal and periureteral fibrosis with bilateral hydronephrosis and aggravation of legs, and pelvis bone involvement on scintigraphy) | 2 y after stopping IFN-α (reappearance of all manifestations, requiring left ureteral stenting) | No treatment with Anakinra |
MRI indicates magnetic resonance imaging.