Symptoms and manifestations of Erdheim-Chester disease

Czech version

Authors: Z. Král ¹; M. Krejčí ¹; M. Ježová ²; S. Ševčíková ³; Z. Řehák ⁴; R. Koukalová ⁴; K. Starý ⁵; J. Neubauer ⁶; Z. Adam ¹
Authors‘ workplace: Interní hematologická a onkologická klinika LF MU a FN Brno ¹; Ústav patologie LF MU a FN Brno ²; Ústav patologické fyziologie, LF MU, Brno ³; Oddělení nukleární medicíny, Masarykův onkologický ústav, Brno ⁴; Interní gastroenterologická klinika LF MU a FN Brno, endokrinologické oddělení ⁵; Klinika radiologie a nukleární medicíny LF MU a FN Brno ⁶
Published in: Transfuze Hematol. dnes,26, 2020, No. 3, p. 167-176.
Category: Review/Educational Papers

Overview

Erdheim-Chester disease (ECD) is a rare form of non-Langerhans-cell histiocytosis, associated in more than 50% of cases to BRAFV600E mutations in early multipotent myelomonocytic precursors or in tissue-resident histiocytes. It encompasses a spectrum of disorders ranging from asymptomatic bone lesions to multisystemic, life-threatening variants.

CNS involvement occurs in 56 % of ECD patients. Diabetes insipidus, visual disturbances, pyramidal and extra-pyramidal syndromes were the most recurrent neurological signs, whereas concomitant pituitary involvement, retro-orbital masses and axial lesions in the presence of symmetric bilateral osteosclerosis of long bones depicted the typical ECD clinical picture. Patients with CNS infiltration show a lower occurrence of heart involvement and a higher incidence of bone, skin, retro-peritoneal, lung, aortic and renal infiltration. ECD pathophysiology, clinical features and diagnostic are presented in this paper.

Keywords:

Erdheim-Chester disease

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