Bone Involvement in Gaucher Disease is Related to Late Diagnosis and Treatment

QUIROGA F; OLIVERI B; SILVA C; GONZALEZ D; ROZENFELD P

Congreso; Congreso de la American Society for Bone and MIneral Research; 2017

asymptomatic patients may have bone complications that impair quality of lifePurpose: Evaluating bone involvement in type 1GD patients receiving enzymatic replacement treatment (ERT) with velaglucerase (VG).Methods: observational, transversal and prospective analysis. Demographic data and antecedents of GD (clinical presentation, time from diagnosis and under ERT) were recorded. Skeletal involvement was evaluated by X-rays (spine and lower limbs) bone densitometry (BMD) and magnetic resonance imaging (MRI) of lumbar spine (LS), femur and total skeleton. Laboratory: hemogramme, ferritin (FT), angiotensin converting enzyme (ACE), chitotriosidase (CHIT), intact parathormone (iPTH), 25hydroxyvitamin D (25OHD) and in adults patients ß cross laps [CTX]) and bone alkaline phosphatase (BAP)Results: 27 patients were included (11 males; age: 24.7±14 years; 33%