Myelofibrosis and Pancytopenia Associated With Primary Hyperparathyroidism

Abstract

Objective: Primary hyperparathyroidism (PHPT) has varied clinical presentations. Hematologic abnormalities secondary to PHPT have been described before. However, pancytopenia as the initial presentation has rarely been reported. We report a patient with PHPT who presented for evaluation of pancytopenia.

Methods: Histopathology of the bone marrow at presentation is described. Bone biochemistry results and the hematologic profile before and after curative parathyroidectomy are presented.

Results: A 48-year-old woman presented with pancytopenia (hemoglobin, 6.3 g/dL; total leucocyte count, 3000 cells/mm³; and platelet count, 60 000 cells/mm³), and her bone marrow study showed marrow fibrosis. Biochemical evaluation revealed hypercalcemia (15.5 mg/dL), hypophosphatemia (2.2 mg/dL), and elevated total alkaline phosphatase (4132 U/L). Bone mineral density assessment by dual-energy X-ray absorptiometry scan revealed osteoporosis at all 3 sites, which was more severe in the distal one third of the forearm. Further investigations confirmed the diagnosis of PHPT (serum parathyroid hormone, 2082 pg/mL). Following curative parathyroidectomy, in addition to normalization of calcium, there was restoration of all 3 hematologic cell lines at 3 months.

Conclusion: Pancytopenia may be a rare manifestation of PHPT. Thus, it may be prudent to evaluate the calcium profile in patients with chronic refractory anemia and pancytopenia.

Keywords: PHPT, primary hyperparathyroidism; PTH, parathyroid hormone; hypercalcemia; pancytopenia; primary hyperparathyroidism; refractory anemia.

Fig. 1

Trephine biopsy of the bone marrow. A, Increased bone turnover characterized by osteoclastic resorption (arrows) and osteoblastic activity (stars). B, Intratrabecular osteoclastic tunneling resorption cones with peritrabecular fibrosis, which is the hallmark of hyperparathyroidism affecting the bone.

Fig. 2

PTH scintigraphy showing tracer accumulation in the lesion noted in the right lower pole of thyroid in the initial image at 10 minutes (A), which persists in the delayed image at 60 minutes (B). PTH = parathyroid hormone.