Abstract

Introduction: Sickle cell disease (SCD) is the most common genetic disease in the world. Vitamin D deficiency has been described in several patients with this disease. We report the case of a patient in whom osteomalacia revealed the disease. Observation: The patient was 35 years old, not an alcoholic, not exposed to toxic products, with a family history of sickle cell disease in her 4 brothers and sisters. She reports the appearance of diffuse bone pain but which predominates in the axial skeleton, the ribs and the rhizomelic zones having motivated several hospitalizations. These pains are recurrent with new attacks on the lumbar spine, and sacroiliac joints with intense pain. Paraclinical examinations revealed: normal long bone radiographs without bone lysis, a CT scan of the sacroiliac joints without any aspect of sacroiliitis, but revealing multiple vertebral condensing bone lesions in streaks, diffuse at the level of the iliac wings with osteolysis surrounded by non aggressive osteocondensation. Densitometry was normal, vitamin D deficiency was noted at 29 ng/mL with elevated alkaline phosphatase, normal concentrations of Calcemia and Phosphoremia respectively at 96 mg/L and 36 mg/L, contrasting with hyperparathyroidism with a blood level of parathyroid hormone elevated to twice the normal level at 104.4 pg/mL It should be noted that the patient had received per os vitamin D supplementation before coming to us. The diagnosis of osteomalacia secondary to vitamin D deficiency complicated by secondary hyperparathyroidism was retained. Given the family history, we looked for the existence of sickle cell disease which was finally confirmed on hemoglobin electrophoresis with an AS profile. Conclusion: The association between vitamin D deficiency and sickle cell disease is not uncommon, and is explained by the ethnic origin, race, skin color, genetics and physiological features of patients with this disease rather than the disease itself.

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