Erdheim-Chester Disease: a comprehensive review of the literature

Abstract

Erdheim-Chester Disease (ECD) is a rare form of non Langerhans' cell histiocytosis. Individuals affected by this disease are typically adults between their 5th and 7th decades of life. Males and females are almost equally affected. The multi systemic form of ECD is associated with significant morbidity, which may arise due to histiocytic infiltration of critical organ systems. Among the more common sites of involvement are the skeleton, central nervous system, cardiovascular system, lungs, kidneys (retroperitoneum) and skin. The most common presenting symptom of ECD is bone pain. The etiology of ECD is unknown yet thought to be associated with an intense TH1 immune response. It may also be associated with the V600E BRAF mutation, as described in as many as half of the patients in recent studies. Bilateral symmetric increased tracer uptake on 99mTc bone scintigraphy affecting the periarticular regions of the long bones is highly suggestive of ECD. However, definite diagnosis of ECD is established only once CD68(+), CD1a(−) histiocytes are identified within a biopsy specimen. At present, this obscure ailment embodies numerous challenges to medical science. Given its rarity, it is diagnostically elusive and requires a high level of clinical suspicion. Therapeutically, it is of limited alternatives. Currently, interferon-α is the most extensively studied agent in the treatment of ECD and serves as the first line of treatment. Treatment with other agents is based on anecdotal case reports and on the basis of biological rationale. Nevertheless, cladribine (2CDA), anakinra and vemurafenib are currently advocated as promising second line treatments for patients whose response to interferon-α is unsatisfactory. Overall, the 5 year survival of ECD is 68%. Herein, the authors mustered and brought about a panoramic consolidation of all the relevant facts regarding ECD. This work highlights the different clinical, radiological and pathological manifestations associated with ECD, the differential diagnoses, the various treatment options and the acknowledged science explaining the disease.

Erdheim-Chester Disease With Renal Involvement: A Case Report

“…5 They also show an increased uptake of tracer on Technetium 99m bone scintigraphy. 4 These bone changes may be misdiagnosed as Paget's disease, lymphoma, sarcoidosis, metastases, or lipid storage diseases. The histiocytic infiltrative process, as found in our case, may involve the retroperitoneum in approximately 29 to 68% of patients.…”

“…The histiocytic infiltrative process, as found in our case, may involve the retroperitoneum in approximately 29 to 68% of patients. 4,5 The soft tissue infiltrate around the aorta and its major branches can be misdiagnosed as arteritis, lymphoma or retroperitoneal fibrosis. 4 The process may lead to severe arterial stenosis and the consequences include cerebral ischemia, cardiac angina, mesenteric ischemia, or renovascular hypertension.…”

“…Definite diagnosis can be made by CD68(+) CD1a(-) histiocytes seen in biopsy specimen. 4 Treatment should be administered by experienced professionals in ECD. 2 …”

Tratamiento con sirolimus y prednisona en enfermedad de Erdheim-Chester con compromiso cardiaco: Caso clínico

“…Menos frecuentemente se observa: c) infiltración miocár-dica-pudiendo originar insuficiencia cardiaca; d) infiltración de la aurícula derecha semejando un tumor cardiaco; e) infiltración de los sulcus aurículo-ventriculares, septum interauricular y lecho peri-coronario-pudiendo originar infartos; f) valvulopatías aórtica y mitral-produciendo regurgitación; g) anormalidades de la conducción o arritmias [3][4][5][6] . La falla cardiaca inducida por la fibrosis miocárdica y/o el compromiso pericárdico son las principales causas de muerte 7 .…”

“…En ellos se han ensayado drogas antineoplásicas, biológicas e inmunosupresoras 3,7,[10][11][12][13][14][15][16][17][18][19][20][21] .…”