Novel compound heterozygous ITGA2B mutations in Glanzmann thrombasthenia associated with adolescent osteoporosis.
Yang Zhang, Yujiao Luo, Guangsen Zhang
✦ AI-curated · Sources linked
Case in brief
A 14-year-old with Glanzmann thrombasthenia had asymptomatic radial osteoporosis without identified secondary causes. Platelet aggregation testing and flow cytometry supported type I disease, with CD41/CD61 expression below 5%. Genetic testing identified compound heterozygous ITGA2B variants, Arg358His and Leu466Pro. Structural modeling suggested that both variants destabilized the αIIb β-propeller domain, leading to protein degradation. The report describes the coexistence of severe platelet αIIbβ3 deficiency and osteoporosis in this adolescent.
What made this case unusual
Osteoporosis was found in an adolescent with GT and no identified secondary cause, alongside novel compound heterozygous ITGA2B variants. The proposed connection between αIIbβ3 dysfunction and bone metabolism remains uncertain.
Diagnostic / clinical pearl
In a patient with GT, bone-density assessment may identify asymptomatic osteoporosis; this case supports considering bone health while recognizing that a causal link to ITGA2B variants is not established.