Erdheim-Chester Disease with No Skeletal Bone Involvement and Massive Weight Loss

Abstract

Erdheim-Chester disease (ECD) is a rare type of non-Langerhans cell histiocytosis, with only 550 cases reported worldwide. ECD is characterized by diffuse histiocytic infiltration of multiorgans. The age of presentation of this disease is typically between 40 and 70 years. Bone disease is the most common symptom, as unique radiological findings of long bone sclerosis occur in 96% of cases. Furthermore, BRAF V600E mutation is detected in 60% of ECD cases. In this manuscript, we are describing a unique case of ECD; the patient is younger than most reported cases and has no bone pain or any skeletal involvement. This patient has unintentionally lost about 50% of his body mass and is suffering from progressive cerebellar manifestations with radiological evidence of cerebellar atrophy, in contrast to the usual ECD manifestation of cerebellar infiltration. In addition, the patient has cardiac, retroperitoneal, and perinephric involvement, but he retains his sexual drive and fertility. A tissue biopsy from the retroperitoneal mass displayed typical morphological and immunohistochemical features of ECD, and BRAF V600E mutation was detected. He was treated with pegylated interferon alpha, but his disease progressed and the treatment was changed to vemurafenib to which he had an excellent response at 6 weeks.

Retroperitoneal Erdheim-Chester disease without skeletal bone involvement mimicking uterine sarcoma with multiple organ involvement

“…Atypical presentations can be challenging for the diagnosis of ECD. ECD with no skeletal involvement is extremely rare, and only a few cases have been reported [5]. Our patient had no skeletal involvement.…”

Localized Erdheim-Chester disease involving the thyroid gland—a case report

“…Though symmetrical diaphyseal/metaphyseal cortical osteosclerosis of the lower extremity long bones is typical of ECD, cases without bone involvement have been reported in literature [3][4][5][6], and the absence of bone involvement should not deter the clinician from considering this possibility. Moreover, bone involvement may not be the first manifestation of the disorder and may be asymptomatic in up to 50% of the patients [10].…”

“…Though the disease is classically defined based on the above criteria, cases without skeletal involvement have been identified in literature on the basis of the classic xanthogranulomatous pathology and immunohistochemical staining pattern [3][4][5][6]. In fact, the disease without skeletal involvement is a distinct subset of ECD in the revised histiocytosis classification [2].…”

Highlights of the Management of Adult Histiocytic Disorders: Langerhans Cell Histiocytosis, Erdheim-Chester Disease, Rosai-Dorfman Disease, and Hemophagocytic Lymphohistiocytosis

“…13 We reported a case of ECD with a 50-kg weight loss and no skeletal bone involvement. 14 Complete physical examination looking for skin lesions, softtissue swelling, xanthelasmas, and fundoscopy, in addition to cardiovascular, chest, cognitive, and neurologic examinations should be undertaken. Pretreatment workup should include full peripheral blood counts, liver function, renal function, sodium level, C-reactive protein, serum and urine osmolality, and gonadotropin levels.…”

“…In addition to the IHC and morphology examination of the involved tissue, mutation analysis and next-generation sequencing In general, therapy is initiated for all patients diagnosed with ECD except asymptomatic patients with only bone disease or those who present only with DI. 14 Treatment options (Figure 3) include interferon alpha at a dose of 3 to 9 million IU via IV 3 times per week or pegylated interferon alpha at a dose of 135 mcg/week subcutaneously. Higher doses at 180 mcg/week may be needed for suboptimal responses or cardiac/CNS involvement.…”