FAMILIAL HYPOCALCIURIC HYPERCALCEMIA

Course overview

FAMILIAL HYPOCALCIURIC HYPERCALCEMIA (FHH) IS A RARE AUTOSOMAL DOMINANT CONDITION. IT OCCURS AS A RESULT OF MUTATIONS IN THE CALCIUM-SENSING RECEPTOR GENE (CASR) THAT LEAD TO DECREASED RECEPTOR ACTIVITY. PATIENTS TYPICALLY HAVE MILD HYPERCALCEMIA, HYPOCALCIURIA, HYPERMAGNESEMIA, AND HYPOPHOSPHATEMIA. PARATHYROID HORMONE IS NORMAL OR MILDLY ELEVATED. THIS ACTIVITY REVIEWS HOW TO PROPERLY EVALUATE FOR FAMILIAL HYPOCALCIURIC HYPERCALCEMIA AND FURTHER STEPS THAT SHOULD BE TAKEN WHEN THIS CONDITION IS PRESENT. THIS ACTIVITY HIGHLIGHTS THE ROLE OF THE INTERPROFESSIONAL TEAM IN CARING FOR PATIENTS WITH THIS CONDITION.