SIGNIFICANT MALNUTRITION AND OSTEOPENIA IN GAUCHER TYPE I PATIENTS DESPITE ENZYME REPLACEMENT THERAPY

OLIVERI B; PARISI MS; GOLDSTEIN G; BAGUR A

Seatle

Congreso; 26th Anual Meeting ASBMR; 2004

American Society for Bone and Mineral Research

Gaucher patients (GP) have a deficit in b glucocerebrosidase activity, which in turn leads toaccumulation of glucocerebroside in the macrophages of various organ systems (spleen, liver,lung, kidney, bone and bone marrow). Eighty % of Type I GP present skeletal involvement. Ina previous cross-sectional study we reported that GP receiving enzyme replacement therapy(ERT) (ASBMR2003) had diminished bone mass associated with unbalanced bone metabolismdue to higher resorption than formation. Hypermetabolism (higher resting energy expenditure)was described in GP, and found to improve partially and to varying extents with ERT. The aimof the present study was to evaluate whether GP patients receiving ERT presented alterations inbody composition (BC) (fat and lean mass), and the relationship between body composition andbone mass. The study population comprised 10 patients (5 women, 5 men) aged (X± SD) 26.1±7.0 years (range (r):19-43 ) with a BMI of 19.4.±1.7 kg/m2 (r:16.5-22.9). Six patients weresplenectomized and 5 had hepatomegaly. All patients had been receiving ERT (imiglucerase) ina dose of 50.8±14.0 IU/kg/2weeks (r:30-71) during 4.9±3.7 years. Bone Mineral Density andContent (BMD and BMC ) of Total Skeleton (TS) and fat and lean mass were measured by DXA(Lunar DPX-L) and compared with age/sex matched controls, to calculate Z score andpercentage of diminution.Age and height of GP were similar to controls but the following parameters were significantlydiminished: weight, fat. and lean mass Zs were: -1.84 (p<0.05), -1.6 (p<0.001) and –1.13(p<0.05) respectively and TS BMD, BMC and total calcium Zs were: -1.69 (p<0.001), -1.65 (p<0.001) and -1.67 (p<0.001), respectively .When GP were grouped according to sex: both malesand females had a high diminution in TS BMC (-19%,p<0.05) and fat mass (-40%,p<0.01) butonly males showed a significant diminution in lean mass (-12%,p<0.05).When divided according to ERT dose, the patients receiving <60IU/ kg/2w had lower: TS BMD:Zs -2.5 vs -1.1 (p<0.04), BMI 18 vs 20 (p<0.067), and fat mass Z: -2.0 vs –1.3 (p<0.067), thanthose receiving ³60IU/kg/2w. No differences in BC were observed in patients withhepatomegaly or splenectomy. The only positive significant correlation was between Z of TSBMC and lean mass. CONCLUSION: GP present severe malnutrition (mainly due todiminished fat mass) and present significant osteopenia, which is probably due to multifactorialcauses rather than to fat mass diminution. Although ERT was not sufficient to prevent bodycomposition alterations, patients receiving higher ERT doses tended to present fewer alterations