Osteoarticular pathology in Gaucher disease, complicated by tuberculosis (clinical observations)

Abstract

Introduction Gaucher disease belongs to the group of hereditary lysosomal orphan cumulative diseases caused by deficiency of the β-glucocerebrosidase enzyme. It features polysystemic affection, including bone tissue. The osteoarticular system in Gaucher disease is affected in 75–83 % of cases. Moreover, infectious processes may frequently develop, including tuberculosis. Purpose The aim of this work was to demonstrate the features and difficulties in diagnosing osteoarticular pathology in Gaucher disease complicated by tuberculosis infection in patients of different ages. Material and methods The following methods were used in the study: clinical material (including a retrospective case history), additional research methods, imaging diagnosis (radiography, computed tomography, magnetic resonance imaging), data from the protocols of surgical interventions, morphological study of biopsy / surgical material with microbiological confirmation. Results Two case reports are presented that demonstrate destructive changes in bones and joints developed due to Gaucher disease, and its further association with tuberculosis infection. One patient was diagnosed with Gaucher disease in childhood and gradually developed osteoarticular pathology that was later complicated by tuberculous. In the second case, the patient sought medical help due to pain in the lumbar spine as he already had osteoarticular manifestations. Upon further examination at the age of 32, Gaucher disease was diagnosed. Tuberculosis infection of the bones was suspected but was questioned several times by various medical institutions. Conclusion The clinical cases discussed confirm the difficulty of diagnosing osteoarticular pathology in Gaucher disease, especially in associated tuberculosis. This issue dictates the need for a specific examination algorithm.