Endocrine Abstracts

Familial Hypocalciuric Hypercalcaemia (FHH) and Familial Combined Hyperlipidaemia (FCH) are inherited metabolic disorders characterized by dysregulation in calcium and lipid levels, respectively. FHH is caused by a mutation in the calcium-sensing receptor gene (CASR) resulting in reduced calcium excretion and resultant mild chronic hypercalcaemia. FCH is a relatively more common polygenic disorder with lipid derangements like increased triglycerides and cholesterol and reduced protective high-density lipoproteins (HDL). Hypercalcaemia and hypertriglyceridaemia are recognized individual triggers for acute pancreatitis but their co-existence in patients with both FHH and FCH are rare and poorly studied. A 40-year-old man presented to his GP with 3 years of episodic pain abdomen, nausea and vomiting- consistent with sub-acute pancreatitis. His work up showed a finding of persistent moderate hypercalcaemia (Adjusted Calcium 2.8-2.9). After 2 years he was noted to have a urine calcium-to-creatinine of 0.006. He was diagnosed with FHH after a CASR gene mutation was confirmed. Unusual for FHH, he required cinacalcet to correct labile calcium levels. Recently, he presented to the ED with severe abdominal pain, nausea, and vomiting. Lab tests showed triglycerides of 37 mmol/l, amylase of 1000 mmol/l, and adjusted calcium of 2.65 mmol/l. Management of his acute pancreatitis included intravenous fluids, insulin therapy to lower triglycerides acutely and monitoring in intensive care unit. Once stabilised, his long-term management focused on dietary modifications and lipid-lowering measures (including fibrates and omega-3 fatty acids) alongside cinacalcet to mitigate the synergistic effect of the two metabolic disorders. This case highlights the importance of early recognition and management of FHH and FCH through screening and genetic testing. Prompt monitoring and control will prevent complications such as pancreatitis. Further research on the interplay between calcium and lipid metabolism will have strong value in preventative medicine and will aid in personalizing treatment strategies in affected individuals.