OLIVERI Maria Beatriz
congresos y reuniones científicas
A Comprehensive Study of Bone Manifestations in Adult Patients with Gaucher Disease type 1
OLIVERI B; GONZALEZ D; QUIROGA F; SILVA C; ROZENFELD P; LIS CAMILO; RIEMERSMA O; KOT M
Congreso; ANNUAL MEETING AMERICAN SOCIETY FOR BONE AND MINERAL RESEARCH; 2018
Gaucher disease (GD) is the most prevalent lysosomal storage disease and bone involvement is the most disabling condition. Purpose: Evaluate bone involvement in adult patients with GD and its relationship with parameters of bone mass, quality and remodeling markers. Methods: observational, transversal and prospective analysis. Skeletal involvement was evaluated by X-rays (spine and lower limbs) bone densitometry (BMD) and magnetic resonance imaging (MRI) of lumbar spine (LS) and femur(F). Trabecular bone score (TBS) was calculated at LS and Bone Marrow infiltration (BMB) by MRI. Laboratory: hemogram, ferritin (FT), chitotriosidase (CHIT), ß cross laps (CTX), N terminal procollagen type1 (P1NP) and bone alkaline phosphatase (BAP). Results: 32 Type 1GD patients were included (19 females; age: 40±16 years; range 20-77). 9 patients referred history of long fractures. Patients have been receiving velaglucerase for 2.7±1.4 years, 19/32 were previously treated with imiglucerase. Ninety four % of the subjects met therapeutic goals (TG) for hematological parameters, 8 were splenectomized (SPX) and only one patient did not reach TG for visceromegalies. 19/32 patients had bone irreversible lesions (IL): avascular necrosis (n=14), bone infarction (n=16) and vertebral fractures (n=7). Bone MRI showed positive BMB in 71% of the patients in F and 22% in LS. Patients with IL had BMB higher than patients without IL (p=0.001). All splenectomized patients have IL, higher prevalence of bone marrow edema (p=0.02) and lower TBS (p=0.03) compared with those with preserved spleen. Only 18.7% of the patients had abnormal BMD without correlation with fractures (FX). TBS values were < 1350 in 53% of the patients and a tendency to lower TBS was observed in those with FX (p=0.06). Patients with P1NP in the lower quartile had lower TBS (p=0.03) and a higher prevalence of bone marrow edema compared to those in the higher quartiles. TBS correlated moderately but without reaching statistical significance with P1NP (r=0.32) and with BMB (r=- 0.44).Conclusions: Even after reaching hematological and visceral TG, a high prevalence of irreversible bone lesions was documented. Bone quality, evaluated by TBS, was more affected than BMD in fractured patients. Low bone formation active bone marrow infiltration and splenectomy might be implicated in IL.