An 22-year-old patient with a history of homozygous sickle cell disease (complicated by multiple vaso-occlusive attacks) was referred to the endocrinologist for persistent hypercalcemia for more than one year (between 2.63 and 2.82 mmol/l, N: 2.152.50 mmol/l), associated with hypophosphoremia (0.71 mmol/l, N: 0.751.39 mmol/l) and elevation of parathyroid hormone (170 ng/l, N <49 ng/l). Cervical ultrasound did not show parathyroid adenoma, but parathyroid MIBI scintigraphy revealed pathological parathyroid tissue at the lower pole of the right lobe compatible with the diagnosis of primary hyperparathyroidism. However, previous blood tests also showed a severe and prolonged deficit of vitamin D (<6 ng/ml, N: 3080 ng/ml) although regular substitution with high doses of Cholecacliferol. Moreover vitamine D deficiency was associated with other fat soluble vitamin (A and E) deficiencies suggesting a malabsorptive pathology. She had around three bowel movements a day but with no clay-colored stool and no diarrhea. The search for antibodies characteristic of celiac disease was negative as well as antibodies against parietal cells and anti-intrinsic factor. A trioleine breath-test confirmed malabsorption with a CO2 estimated at 3.4% (N> 23%). Cholangio-MRI did not show ischemic cholangitis that could be associated with sickle cell disease, but demonstrated a severe atrophy of pancreatic parenchyma that could explain the malabsorption syndrome. Creon was thus prescribed. One year later, she developed inaugural diabetes (polyuria, polydipsia, weight loss with severe hyperglycemia and started insulin therapy with basal-prandial regimen. C-peptide was low but the search for diabetes-related autoantibodies was negative. Regarding the etiology of this pancreatic atrophy, there had no history of acute pancreatitis crisis although they may have gone unnoticed in the context of painful crises associated with vaso-occlusive attacks of sickle cell disease. Pancreatic atrophy due to prolonged hypercalcemia is also unlikely (rare cases described, moderate hypercalcemia and no intrapancreatic calcifications). Given the age of the patient, a genetic origin of chronic pancreatic is being researched. We described the case of a young patient with pancreatic atrophy of unknown origin and secondary exocrine and endocrine pancreatic insufficiencies, with malabsorption syndrome and insulindependent diabetes. Chronic and prolonged vitamin D deficiency induced tertiary hyperparathyroidism with identifiable parathyroid adenoma.
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21 Oct 2019
Belgian Endocrine Society