Osteitis fibrosa cystica—a forgotten radiological feature of primary hyperparathyroidism

Abstract

SummaryAlthough bone disease and stone disease are the universally accepted classical manifestations of primary hyperparathyroidism, clinical parathyroid bone disease is rarely seen today in the United States (<5% of patients) and Western Europe. Nevertheless, in a given patient, classical skeletal involvement can be the first sign of primary hyperparathyroidism, but not recognized because it is not usually included, anymore, in the differential diagnosis of this manifestation of skeletal disease. We describe four cases of primary hyperparathyroidism in which the first clinical manifestation of the disease was a pathological fracture that masqueraded as a malignancy. The presence of large osteolytic lesions gave rise to the initial diagnosis of a primary or metastatic cancer. In none of the reported cases was primary hyperparathyroidism with osteitis fibrosa considered as the diagnosis. It would seem to us that this course is best explained by the fact that in many countries such manifestations of primary hyperparathyroidism have become a rarity. In fact, the incidence of osteitis fibrosa among patients with primary hyperparathyroidism in the US is estimated as so rare, that in majority of medical centers routine x-ray examinations of the bones in these patients is not recommended. The X-ray or computed tomography scan findings of osteitis fibrosa cystica include lytic or multilobular cystic changes. Multiple bony lesions representing brown tumors may be misdiagnosed on computed tomography scan as metastatic carcinoma, bone cysts, osteosarcoma, and especially giant-cell tumor. Distinguishing between primary hyperparathyroidism and malignancy is made readily by the concomitant measurement of parathyroid hormone which in primary hyperparathyroidism, again, will be markedly elevated. In the hypercalcemias of malignancy, such elevations of parathyroid hormone are virtually never seen.ConclusionWhen radiographic evidence of a lytic lesion and hypercalcemia are present, primary hyperparathyroidism should always be considered in the differential diagnosis.

Primary hyperparathyroidism: should surgery be performed on all patients? Current evidence and residual uncertainties

“…Primary hyperparathyroidism is associated with increased bone remodelling and an increased incidence of fractures . Osteitis fibrosa cystica is pathognomonic for pHPT, but is rare . Osteoporosis, often first observed in the distal forearm, may progress silently until fragility fractures occur .…”

“…hyperparathyroidism is associated with increased bone remodelling and an increased incidence of fractures [76,77,81,82]. Osteitis fibrosa cystica is pathognomonic for pHPT, but is rare [15,26,83].…”

Increased risk for tooth extraction in primary hyperparathyroidism and hypercalcemia: a population study

“…Thus, the effect of pHPT on dental comorbidities is primarily hypothesized as being related to periodontal disease and ultimately, tooth loss. Extreme findings of pHPT-related brown tumors in the jaw, caused by microfractures and bleeding in an osteolytic lesion and ossifying fibromas, are today rarities and should raise suspicion for a genetic disorder known as the HPT-Jaw-tumor syndrome, caused by a defined mutation affecting the CDC73 gene [5,10].…”

Osteitis fibrosa cystica masquerading as bone neoplasm

“…OFC or brown tumour is a bone lesion which represents the final stage of hyperparathyroidism 13. It was initially described in 1891 by Von Recklinghausen 14.…”

“…OFC and neoplastic/metastatic disease may be differentiated by assessing the PTH level which is elevated in hyperparathyroidism-induced hypercalcaemia and normal/low in hypercalcaemia of malignancy 13. OFC resolves with the surgical treatment of hyperparathyroidism making its recognition crucial to avoid unnecessary diagnostic and therapeutic procedures.…”