Bone Involvement in Gaucher disease: Educational program for early diagnosis of Gaucher disease with focus in bone affection (BIG Project) -Argentinian Experience

OLIVERI, B.; LIS C; ROZENFELD PA; KOT M; GONZALEZ D; RIEMERSMA O

Conferencia; ASBMR 2018; 2018

Gaucher disease (GD, OMIM#230800) the most frequent lysosomal disease, is caused by a deficient activity of glucocerebrosidase (GCase) that leads to excessive storage of glucocerebroside in the liver, spleen, bone and bone marrow. The clinical suspicion of GD is traditionally associated to hepato/splenomegaly and cytopenias and available algorithms for the diagnosis are based on those signs and employed more frequently by hemathologists. However bone symptoms have been recognized in 30 % of patients at the time of diagnosis, isolated or associated with other hemathological alterations. Notably, due to a lack of awareness, long diagnostic delays are described leading to serious complications. Early diagnosis and enzyme replacement therapy (ERT) are extremely important for reversing splenomegaly and citopenias, and preventing irreversible skeleton damage.Purpose: to enhance early GD diagnosis in patients whose first manifestations are bone symptoms we designed a program of medical educational meetings in GD and proposed a novel screening algorithm for GD with focus in bone affection.The algorithm was based on the following consulting diseases: 1- osteomyelitis of unknown ethiology and Perthes disease in patients below 18 years old (yo) 2- recurrent fragility Fx, bone pain, AVN, hip arthroplasty (of uncertain ethiology) in patients below 50 yo. 3-Low bone density (Z score < - 2.0) and bone pain without known causality associated with abnormal ferritin levels and/or platelet count. The first step in the screening is by assaying in dried blood filter paper (DBS). Pathological results must be confirmed by measuring GCase in leukocytes. From April 2017 this project has been presented in 7 hospitals of different argentinian provinces in meetings ad hoc with an overall attendance of 250 physicians with different related speciallities and in two Bone Metabolism Meetings (2016 and 2017) (with 300 attendants). Until today 26 samples had been submitted (ages from 1 to 47 y) origined in: bone crisis (n= 8), AVN (n=2), recurrent fractures( n=8), bone pain (n=2), a painfull bone lesion (n=1), and visceromegalies or citopenias(n= 5). DBS was pathological in three patients, and the diagnosis of GD was confirmed in two of them. Conclusion: These results encourage to continue in implementing the educational program designed to improve the awareness in GD facilitating the early diagnoses and treatment to avoid morbidity and complications.