Bone mineral density and skeletal fractures in familial benign hypercalcemia (hypocalciuric hypercalcemia)

To determine whether familial benign hypercalcemia, or familial hypocalciuric hypercalcemia (FHH), has adverse effects on the skeleton, we measured bone mineral density (BMD) in 31 affected persons from 14 families (16 women and 15 men), ranging in age from 19 to 68 years. Forearm BMD was measured by single-photon absorptiometry, and spinal BMD was measured by dual-photon absorptiometry. In addition, we systematically queried 82 hypercalcemic and 52 normocalcemic family members about skeletal fractures. Both men and women with FHH had normal BMD (expressed as grams per square centimeter) in the lumbar spine, distal radius, and midradius. Osteoporotic-type fractures (vertebrae, hip, and distal radius) were virtually absent in both affected and unaffected family members. Detailed evaluation of larger numbers of of older affected persons may be necessary to resolve this issue definitively, but we conclude provisionally that FHH has no important adverse effects on skeletal health.