"This report highlights the diagnostic challenges of SM, emphasize its underrecognized role in osteoporosis and fragility fractures, and advocates for its consideration in patients with unexplained skeletal abnormalities."
BUFFALO, NY - February 13, 2025 – A new case report was published in Oncoscience's Volume 12 on February 4, 2025, titled " Breaking point: Systemic mastocytosis manifesting as severe osteoporosis ."
First author Areti Kalfoutzou, and colleagues from the 251 Air Force General Hospital and other medical institutions in Greece, reported the unusual case of a 23-year-old man with severe bone loss and spinal fractures. Further testing led to a surprising diagnosis of systemic mastocytosis (SM), a rare blood disorder that causes certain immune cells, called mast cells, to build up in different parts of the body. This report highlights how SM can go undiagnosed and may be a hidden cause of unexplained osteoporosis in young adults.
Systemic mastocytosis affects the bone marrow, liver, and digestive system. It can lead to severe allergic reactions, digestive problems, and fragile bones that break easily. Many clinicians do not initially consider this disease when evaluating patients with osteoporosis, leading to delayed diagnoses.
In this case, the patient requested medical attention for sudden back pain and difficulty walking. Despite having no history of trauma, imaging scans revealed multiple spinal fractures and severe osteoporosis. Blood tests showed high levels of tryptase, a substance linked to mast cell activity. A bone marrow biopsy confirmed SM. However, unlike most cases, this patient did not have the common D816V KIT gene mutation, making his condition even rarer.
"To our knowledge, this is the 8th case of mastocytosis with coexisting MS reported in literature."
To strengthen his bones, the patient was treated with zoledronic acid, a bone-strengthening medication, and started on avapritinib, a targeted therapy designed to reduce mast cell growth. His treatment required careful planning, as he also had multiple sclerosis and glucose-6-phosphate dehydrogenase (G6PD) deficiency, complicating the selection of appropriate medications.
While osteoporosis is typically associated with aging, its presence in young adults without clear risk factors should raise concern for underlying conditions such as systemic mastocytosis. Research shows that up to 50% of people with SM experience severe bone loss, which can lead to unexpected fractures. Misdiagnosis is common because symptoms can mimic more common conditions like primary osteoporosis or irritable bowel syndrome.
This case highlights the importance of early testing for SM in people with unexplained bone loss or fractures. Routine testing for serum tryptase levels and early bone marrow evaluation could help detect cases sooner, preventing severe complications and long-term damage.
Finally, the authors emphasize the need to raise awareness of systemic mastocytosis and to consider it when evaluating young patients with osteoporosis that has no clear cause. They also highlight the importance of further research into cases without the usual genetic mutation, as these may require different treatment strategies.
Continue reading: DOI: https://doi.org/10.18632/oncoscience.614
