Take it on the chin: The first presentation of primary hyperparathyroidism.
Lilli Cooper, CT2 Renal Transplant and Endocrine surgery, Peter Gogalniceanu, SpR Renal Transplant and Endocrine surgery, Mark Cohen, Consultant Endocrinologist,
Nicholas Law, Consultant Endocrine and Vascular Surgeon, Royal Free Hospital.
Primary hyperparathyroidism is common, and usually discovered incidentally. The objective of this case report is to highlight a rare presentation of primary hypercalcaemia, with a jaw mass.
A 54 year-old female patient presented with a long-standing jaw mass and a femoral fracture following minor trauma. Otherwise well, she took no regular medications and had no allergies. On examination, she had a right sided, non-tender mandibular ramus mass with no associated intra-oral changes or lymphadenopathy. Her left femoral mid-shaft was tender, with no neurovascular compromise or inguinal lymphadenopathy. Cardiovascular examination revealed a loud second heart sound, quiet systolic murmur and raised JVP. Her liver was non-pulsatile and she had no peripheral oedema.
A plain leg radiograph identified a displaced left supracondylar femoral fracture, a biopsy of which showed an osteoclast-rich lesion. The right sided jaw mass was radiologically consistent with a brown tumour. Admission blood tests revealed hypercalaemia, hypophosphataemia and a raised alkaline phosphatase and PTH with normal renal and thyroid function. An abdominal computed tomography (CT) scan showed multiple, non-obstructing bilateral renal calculi up to 3.4cm with a sinister 5.2cm heterogenous mass in the lower pole of the right kidney, highly suspicious for primary renal malignancy. Her urine cytology was negative. Parathyroid ultrasound and SPECT CT scans identified two parathyroid adenomas, one intra-thyroid, and one retrosternal. An echocardiogram identified severe pulmonary hypertension, attributed to subclinical pulmonary emboli. Genetic testing was negative for hyperparathyroidism-jaw tumour syndrome.
A unifying diagnosis of von Recklinghausen’s bone disease was made, with primary hyperparathyroidism and renal malignancy.
Hypercalcaemia has a breadth of differential aetiologies, the commonest of which is primary hyperparathyroidism due to parathyroid adenomas. Whilst the cause of primary hyperparathyroidism is usually benign, malignancy and underlying genetic abnormalities must be considered. The usual presenting complaints associated with hypercalcaemia are renal stones, osteoporosis and fractures; rare causes such as in this case with a jaw mass, are often missed, as they are not widely recognised. A multi-disciplinary approach is paramount to comprehensive management.