Systemic Mastocytosis Presenting as Pathologic Intertrochanteric Femur Fracture
Abstract
Systemic mastocytosis (SM) is pathologically characterized by the proliferation of mast cells with infiltrates in various organs, almost always including bone marrow, leading to defects in bone remodeling. Osteoporosis and subsequent fragility fractures are the most common and clinically relevant presentation, although pathologic fracture through the focal lytic lesions can also be observed. Here, we report the case of a 54-year-old woman, with a recent history of unexplained severe allergic reactions, presenting with intertrochanteric fracture of the left femur which on careful history, physical and radiological evaluation was determined to be pathological. The patient was found to have lytic lesions on the CT scan at the fracture site and the pelvis, bilateral femurs, ribs, and sternum, raising suspicion for malignancy. The malignancy workup failed to reveal a primary neoplasm, and the patient was indicated for intramedullary fixation of the left femur along with intraoperative biopsy. Pathologic evaluation of the femoral biopsy was positive for aggregates of mast cells with CD117 (c-KIT, D816V). This finding prompted a bone marrow biopsy, which ultimately led to the diagnosis of aggressive SM. Femoral intramedullary fixation was done with a trochanteric femoral nail, and the patient was postoperatively started on calcium, vitamin D, and physical therapy. Systemic disease was managed by the hematology-oncology team, and the patient was given an epinephrine autoinjector…
How strong is the evidence?
Evidence Hub reads this as a case report, done in people. Its evidence level is 5 of 5 (Very low · case / narrative / animal / in vitro / in silico). Case reports, narrative reviews, and animal, cell or computer-model studies give the weakest evidence for human health.
Read the paper
Related studies
- Effectiveness of Bisphosphonates and Denosumab on Risk of Vertebral Fractures in Prostate Cancer Patients Under Androgen Deprivation Therapies: A Real-World Prospective Study
- Osteoporosis-related fractures after spinal cord injury: a retrospective study from Brazil
- Serum 25-hydroxyvitamin D, parathyroid hormone, and mortality in older men
- Lack of Association between Vitamin D Insufficiency and Cardiovascular or Fracture Risk: A UK Biobank Study
- Muscle strength and body composition are clinical indicators of osteoporosis
- Incidence of bone protection and associated fragility injuries in patients with proximal femur fractures
Go deeper in Evidence Hub
Evidence Hub adds a study data sheet (design, sample size, evidence level, key numbers), an AI summary and a chat grounded in the paper's text.