A Case of familial hyperparathyroidism presenting with hypercalcemic crisis

Abstract

Familial isolated hyperparathyroidism (FIHP), a specific type of primary hyperparathyroidism, is known to be asymptomatic despite the accompanying dangerously high levels of calcium and advanced bone or renal disease. In this report, we describe the case of a 47 year-old female with familial hyperparathyroidism, being presented in hypercalcemic crisis with severe bone lesions. She complained of the classic symptoms of hyper-calcemia, such as anorexia, thirst, palpitation and muscle weakness. A physical examination revealed a hump-back deformity associated with a severe thoracic scoliosis and a large neck tumor at the upper pole of the left thyroid lobe. Her serum calcium concentration was 19 mg/dl, her alkaline phosphatase concentration was 2,691 IU/L, and her intact PTH was 3,830 pg/ml. A skeletal survery of the whole body showed the severe osteolytic changes of hyperparathyroidism. Cervical exploration was undertaken, and a tumor (6cm in diameter) was removed. Histological examination revealed a parathyroid chief cell adenoma. In review of this case along with previously reported cases of FIHP in Japan, all cases of hypercalcemia with a calcium concentration greater than 14 mg/dl had exhibited typical hypercalcemic symptoms. Also, many of the urolithiasis-negative cases had significant bone symptoms and signs associated with hyperparathyroidism. Age at diagnosis as hyperparathyroidism is higher in bone-type cases than in urolithiasis-positive cases. The reason for these results is probably due to a lack of urolithiasis that may show early signs of hypercalcemic disorder. In conclusion, it is suggested that hypercalcemic and bone symptoms associated with hyperparathyroidism are not rare in patients with FIHP in Japan, and early recognition of hyperparathyroidism in the family member through long-term follow-up is necessary to avoid a life threatening hypercalcemic crisis as in the present case.