A Young Patient with Multiple Pathological Fractures

A 26-year-old male was asymptomatic and active until the age of 19 years. At the age of 20 years, he underwent lithotripsy for ureteral stones. As he grew older, he experienced bone pain, recurrent bilateral shoulder dislocations, and long bone fractures following minor trauma for which he was operated. Currently, he presented with another long bone fracture following minor trauma. Investigations showed increased serum calcium (11.5 mg/dL), 24-hour urinary calcium (420 mg/24 hours; 100-300 mg/day), and intact parathyroid hormone (PTH) (1688 pg/mL; 10-55 pg/mL). Serum phosphorus was 2.0 mg/dL (2.8-4.5 mg/dL) and 25-OH vitamin D was 10 ng/mL, both of which were decreased. He had normal vitamin B12 levels, complete blood count, kidney function test, liver function test, and thyroid profile. An ultrasound of the abdomen showed multiple bilateral renal calculi and gallbladder (GB) calculus. Calcitonin and 24-hour urinary catecholamine were within the normal range. His X-rays showed multiple lytic lesions in bones, multiple renal calculi, urinary bladder calculus, and fracture shaft of left femur (Figs 1 and 2). He was diagnosed with primary hyperparathyroidism with osteitis fibrosa cystica. He was not willing for further investigations.