The evaluation of skeletal manifestations in patients with Gaucher Disease

INTRODUCTION: Gaucher disease (GD) is the most prevelant hereditary lysosomal storage disorder, affecting multiple organ systems. It is characterized by a deficiency of the enzyme glucocerebrosidase leading to accumulation of glucosylceramide in lysosomes. Majority of patients present with hepatosplenomegaly, anemia, thrombocytopenia, bleeding tendencies, skeletal pathologies, growth retardation and in severe cases pulmonary disease. The bone manifestations include bone infarcts, avascular bone necrosis, lytic lesions, osteopenia or osteoporosis. This article gives an overview on bone manifestations of 20 GD patients and review the current literature.
METHODS: Data of 20 patients with GD that were being followed-up in XXXX University Hospital Pediatric Metabolism Unit were retrospectively evaluated. Demographic information including age, gender, clinical findings, ERT status and duration were recorded. Laboratory analyzes including serum calcium, phosphorus, vitamin D, the presence of skeletal findings, and bone mineral density (BMD) Z scores were collected from the patient files. BMD statuses of patients were compared with the pre-treatment values.
RESULTS: Their main symptoms of referral were abdominal distention, cytopenia, bleeding tendency and skeletal findings. All patients had skeletal symptoms. Nineteen patients showed vitamin D deficiency. The medullary involvement of femur and vertebrae was present in 14 (70%), erlenmayer flask deformity in 3 (15%), avascular necrosis in one (5%) patient. Also, one patient (5%) had lytic bone lesions. Ten patients showed osteoporosis (50%), and 8 showed osteopenia (40%) at the time of diagnosis, before the inititation of ERT. The rate of osteoporosis was detected 40%, and osteopenia to 35% withing the study group after the inititation of ERT.
DISCUSSION AND CONCLUSION: Physicians, including pediatricians, may be unfamiliar with bone pathophysiology and the complexity of the skeletal manifestations of GD. There is a need to enhance awareness and to improve diagnosis and treatment of skeletal pathology in patients with GD.