Osteomalacia as an extraintestinal manifestation of Celiac disease in a patient treated for Gaucher disease

Abstract

Gaucher disease (GD) is the most prevalent lysosomal storage disorder. Bone marrow infiltration by Gaucher cells and the subsequent inflammatory events cause bone lesions, which frequently accompany anemia, thrombocytopenia, and hepatosplenomegaly. We present the case of a 22-year old woman with GD who was referred for bone assessment after 5 years on enzyme replacement therapy (ERT). Although the patient´s hematological parameters improved with ERT showing good response to treatment, she had extensive bone marrow infiltration, and very low bone density. In addition, the patient reported severe bone pain, weakness, and difficulties walking up the stairs. Bone and mineral metabolism assessment showed hypocalcemia, hypophosphatemia, elevated bone alkaline phosphatase, secondary hyperparathyroidism and vitamin D deficiency. All these parameters were compatible with nutritional osteomalacia, and they improved with vitamin D and calcium supplementation. Worsening of her anemia and sustained vitamin D deficiency led to the diagnosis of celiac disease. We highlight the importance of detecting co-morbidities in patients with GD, especially in cases showing poor or inadequate response to specific GD treatment with enzyme replacement or substrate inhibition therapy.