Clinical considerations and key issues in the management of patients with Erdheim-Chester Disease: a seven case series

Table 1 Characteristics of the seven ECD patients

#	Age	Sex	Presenting sign/symptom	Disease involvement sites	BS	CT	PET/CT	Brain MRI	Heart MRI	Treatment roadmap	Notable responses and timeframe	*BRAF* status
1	39	F	Bone pain	STN, CNS, PIT, ROS, CUT, RP, PLM, RTN	+	+	+	+	-	STR → VB → IFNa → IFNa + VB → ANK → CLD → VMR	VMR: marked neurological improvement in 3w	+
2	50	M	Skin lesions and bone pain	STN, CNS, PIT, CUT, RP, ADR, LYM	+	+	-	+	-	CLD	CLD: regression of intracranial perivenous lesion and neurological stabilization, gradually over 13 m	-
3	62	F	Bone pain	STN, PIT, ROS, CUT, PLM, CV	+	+	+	+	+	STR → MTX + STR → IFNa + VB → VB → INX + MTX	INX + MTX - reduction in pericardial effusion volume over a 2 m period	-
4	55	M	Ataxia and dysarthria	STN, CNS, PIT, MNG, RP	-	+	+	+	-	IFNa	-	UNK
5	53	M	Ataxia and dysarthria	STN, CNS, PIT, MNG	+	+	+	+	-	STR → VB → pIFN → CLD	-	-
6	49	M	Abdominal pain	STN, PIT, ROS, RP, PLM, CV, GI	+	+	+	+	+	STR + VB + IFNa → VB + IFNa → IFNa → pIFNa → VMR → pIFNa	VMR: marked skin toxicity even at low doses	+
7	58	M	Polyuria, polydipsia and HTN	STN, PIT, CUT, RP, PLM, CV	+	+	+	+	+	IFNa	IFNa: Normalization of constitutional symptoms over a 6 m period	+

ADR, adrenal glands; ANK, anakinra; BS, ^99mTc bone scintigraphy; CLD, cladribine; CNS, central nervous system; CT, computed tomography; CUT, cutaneous involvement; CV, cardiovascular system; F, female; GI, gastrointestinal tract; HTN, hypertension; IFNa; interferon alpha; pIFNa, pegylated interferon alpha; INX, infliximab; LYM, lymph nodes; m, month; M, male; MNG, meninges; MRI, magnetic resonance imaging; MTX, methotrexate; PET/CT, positron emission tomography/computed tomography; PIT, pituitary gland; PLM, pulmonary system; ROS, retro orbital space; RP, retroperitoneum; RTN, retina; STN, skeleton; STR, steroids; UNK, unknown; VB, vinblastine; VMR, vemurafenib; w, weeks.

ISSN: 1741-7015