Multiple endocrine neoplasia type 1 revealed by a hip pathologic fracture

Clin Rheumatol. 2021 Feb;40(2):775-782. doi: 10.1007/s10067-020-05281-3. Epub 2020 Jul 14.


Multiple endocrine neoplasia type 1 is a rare autosomal inherited syndrome that affects a variety of endocrine tissues such as the parathyroid, endocrine pancreas, and anterior pituitary. Osseous complications are often misdiagnosed. We presented a case of a 46-year-old woman with pathological fractures of the lower limb. She had a history of type 1 diabetes and galactorrhea. Laboratory examinations showed hypercalcemia and an increased level of parathyroid hormone related to hyperparathyroidism. Serum chromogranin A level was increased at 9369 ng/mL (N < 102). A somatostatin receptor scintigraphy (octreoscan) revealed pathological uptake in the gastric wall, later cave adenopathy, and liver. The diagnosis of multiple endocrine neoplasia type 1 was made based on radiological and histological findings. The patient underwent a subtotal parathyroidectomy associated with somatostatin analog treatment leading to significant improvement. A literature review was conducted by searching PubMed using these following terms: multiple endocrine neoplasia type 1, hyperparathyroidism, fracture, menin, osteoporosis. We emphasized bone involvement related to multiple endocrine neoplasia type 1 syndrome. This diagnosis should be considered when pathological fractures occur in young patients with a history of endocrine disorder. We highlighted the importance of imaging features in making the diagnosis of multiple endocrine neoplasia type 1. Early management of this disease is necessary. Treatment including parathyroidectomy and somatostatin analogs leads to bone preservation and functional improvement.

Keywords: Fracture; Hyperparathyroidism; Menin; Multiple endocrine neoplasia type 1; Osteoporosis.

Publication types

  • Case Reports
  • Review

MeSH terms

  • Female
  • Fractures, Spontaneous*
  • Humans
  • Hyperparathyroidism*
  • Middle Aged
  • Multiple Endocrine Neoplasia Type 1* / complications
  • Multiple Endocrine Neoplasia Type 1* / surgery
  • Neoplasm Recurrence, Local
  • Parathyroidectomy