Erdheim-Chester Disease: Case Report with Aggressive Multiple Organ Manifestations

Abstract

Erdheim-Chester disease (ECD) is a rare non-Langerhans cell, lipid-laden histiocytosis with specific histological and radiological findings. The diagnosis sometimes is established lately in the course of the disease. We present a case of a 64-year-old female with elevated inflammatory markers for one year and symptoms related with her comorbidities, particularly bone pain and short of breath. Past medical history includes a stage III chronic kidney disease, central diabetes diagnosed when she was 38 years old, Paget Disease, metabolic syndrome and ischemic cardiopathy. Computed tomography in the near past showed a tissue densification in the thoracic vertebral column and kidneys with hairy aspect. X-ray of the arms, legs, skullcap, and demonstrated sclerotic changes. F-fluorodeoxyglucose positron emission tomography showed uptake in the skull, mediastinum, abdomen and long bones from arms and legs. Biopsy of the hairy kidney was consent after 4 years of an unknown disease in progression. Histological findings of the biopsy reported a diffuse infiltration by foamy histiocytes. On immunohistochemical staining, the histiocytes were positive for CD68 and negative for CD1 and S100. Mutation of BRAF V600E was present and ECD was established. Tocilizumab was initiated off label due to psychiatric contra indication for interferon use and no clinical conditions for BRAF inhibitors and symptoms started being controlled. The diagnosis of ECD is usually challenging due to the rarity of the disease and clinical overlapping with many other conditions. The rarity and variable presentation of this disease usually leads to delayed diagnosis and to high morbidity and mortality rates from associated complications.