Abstract
Introduction. Familial hypocalciuric hypercalcemia is a rare inherited calcium metabolism disorder in which an alteration of the parathyroid hormone secretion set-point causes hypercalcemia with relative hypocalciuria. Some data suggest that its prevalence is around 74.1 per 100,000 inhabitants. Often, patients are asymptomatic. However, they can develop mild symptoms and an overactive parathyroid adenoma, its main differential diagnosis. The objective was to describe a patient’s case and highlight the importance of clinical suspicion and diagnosis to avoid unnecessary surgical neck explorations for parathyroid adenomas. Case report. This is the case of a 40-year-old man with a biochemical profile compatible with primary hyperparathyroidism with anatomical and functional images negative for adenoma and a calcium/creatinine clearance ratio below 0.001, considering familial hypocalciuric hypercalcemia. Genetic studies evidence a mutation in the calcium sensor receptor gene and confirm the diagnosis. Discussion. Familial hypocalciuric hypercalcemia’s main differential diagnosis is an overactive parathyroid adenoma. For both, mild or no symptoms may be present; serum calcium exceeds the upper limit, and parathormone is more than 25pg/ml. The calcium/creatinine clearance ratio should be used to differentiate one from the other and avoid unnecessary surgical neck explorations. Besides the lack of information on this topic, evidence supports the use of calcimimetics to treat symptomatic hypercalcemia. Conclusions. Patients with mild hypercalcemia with parathyroid hormone readings above 25pg/ml and a calcium/creatinine clearance ratio below 0.001, or patients with primary hyperparathyroidism with negative imaging, should not undergo surgical neck explorations. In these cases, familial hypocalciuric hypercalcemia is a reliable diagnosis; Cinacalcet may be administered in cases of symptomatic hypercalcemia.
Highlights
IntroductionFamilial hypocalciuric hypercalcemia (FHH), formerly called benign familial hypercalcemia, is an inherited autosomal dominant disorder caused by mutations in the gene expressing the calcium-sensing receptor (CaSR) in the parathyroid glands, kidneys, and other organs
Familial hypocalciuric hypercalcemia is a rare inherited calcium metabolism disorder in which an alteration of the parathyroid hormone secretion set-point causes hypercalcemia with relative hypocalciuria
This is the case of a 40-year-old man with a biochemical profile compatible with primary hyperparathyroidism with anatomical and functional images negative for adenoma and a calcium/creatinine clearance ratio below 0.001, considering familial hypocalciuric hypercalcemia
Summary
Familial hypocalciuric hypercalcemia (FHH), formerly called benign familial hypercalcemia, is an inherited autosomal dominant disorder caused by mutations in the gene expressing the calcium-sensing receptor (CaSR) in the parathyroid glands, kidneys, and other organs. Not unlike FHH, in mild cases, primary hyperparathyroidism presents no symptoms. The symptoms may include polyuria, polydipsia, or acute pancreatitis when present This relatively frequent endocrine disease has an estimated prevalence of 0.8% in the adult population. The subject was a 40-year-old male New Zealander living in Colombia for six years; he consulted for having polyuria (>3.5 liters per day) and polydipsia associated with migraine-type headaches for 18 months. His medical history included bilateral knee surgery for chondrocalcinosis; no other medical conditions were reported. Sanger sequencing of the coding region and intron- that the patient is a heterozygous carrier of the likely exon junctions of the CaSR gene, which confirmed pathogenic variant c.493-2A>G;p? in the CaSR gene
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