Systemic mastocytosis (SM) can cause significant bone disease, including osteoporosis, bone pain, and structural abnormalities, according to a review published recently in Current Osteoporosis Reports.
Despite its impact on bone health, SM can be challenging to diagnose because its symptoms can mimic more common conditions, such as osteoarthritis and chronic back pain.
“The true prevalence of systemic mastocytosisMastocytosis Rare disease caused by the buildup of mast cells. Cutaneous mastocytosis primarily affects the skin and is more common in children, while systemic mastocytosis affects internal organs and is more common in adults. is likely underreported, highlighting the importance for clinicians to be familiar with the condition, particularly in cases of osteoporosis,” the review’s authors noted.
Get answers about SM and bone disease: “Systemic mastocytosis and bone health: Your ultimate guide”
For many patients, osteoporosis may be the first indication of SM, making early detection crucial. Bone complications can range from decreased bone density (osteoporosis) to abnormal hardening of bone. Severe cases can lead to fractures, particularly in the spine. While osteoporosis is traditionally linked to indolent SMIndolent SM A subtype of nonadvanced SM caused by the abnormal accumulation of mast cells in the bone marrow and other organs. Indolent SM accounts for around 90% of SM cases., bone marrow mastocytosisBone marrow mastocytosis A subtype of indolent SM that occurs when the excess mast cells accumulate in the bone marrow, but not the skin or other organs. is now considered a distinct form of the disease.
Osteoporosis in SM is caused by increased activity of bone-resorbing cells called osteoclasts. Mast cells, which are overactive in SM, release inflammatory substances that impact bone metabolism, accelerating bone breakdown.
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Vertebral fractures are a key concern, affecting up to 30% of patients with SM, including young men who typically have a lower risk for osteoporosis. This emphasizes the need for increased awareness among healthcare providers when evaluating unexplained fractures. Bone pain is another major concern, impacting 10% to 31% of patients.
Diagnosis of SM-related osteoporosis requires a combination of clinical assessment, blood tests and imaging. Standard bone density scans can measure bone mineral density, but they may not always detect early bone weakness. Additional imaging, such as X-rays, CT scans and MRIs can help identify structural abnormalities or fractures.
Treatment typically begins with bisphosphonates, medications that slow bone loss and reduce risk of fracture. In severe cases, particularly those with vertebral fractures, additional therapies such as interferon may be beneficial.
“Intravenous bisphosphonates represent the cornerstone of bone health management in mastocytosis,” explained the authors of this review. They continued, “Newly developed drugs provide promising perspectives on how to improve both osteoporosis treatment and the challenging management of bone pain.”
New mast-cell-targeting drugs are being investigated as potential treatments, though their effectiveness in preventing bone complications remains to be proven. Addressing osteoporosis in SM also involves managing other contributing factors, such as vitamin D deficiency or hormonal imbalances, which may worsen bone fragility.
Beyond medication, patients with SM-related osteoporosis can benefit from lifestyle modifications, including weight-bearing exercise, implementing strategies for fall prevention and adequate intake of calcium and vitamin D. Regular monitoring of bone health is essential, particularly for patients with advanced SMAdvanced SM In these subtypes of SM, mast cells begin to damage organs. Advanced SM includes the subtypes aggressive SM, mast cell leukemia and SM with an associated hematological neoplasm. or those experiencing recurrent fractures.
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