Key result
Bilateral prepatellar tuberous xanthomas can signal underlying familial dysbetalipoproteinemia and concealed lipid metabolic disorders.
Case Report (n=1)
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Case report reveals the initial symptoms of lipid disorder in a female, emphasizing the need for early diagnosis.
Tuberous xanthomas, though uncommon, may be the initial presentation of a concealed systemic lipid metabolic disorder. The typical imaging features, when aligned with the clinical and biochemical profile, can lead to a correct diagnosis for initiation of prompt and early treatment. We present a case of a 47-year-old female with bilateral prepatellar tuberous xanthomas as the initial clinical and imaging pointer for the diagnosis of familial dysbetalipoproteinemia. This case report highlights the importance of early recognition of these imaging findings of tuberous xanthomas for the diagnosis of underlying dyslipidemia and to prevent atherosclerotic cardiovascular complications.
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Sharma et al. (2026) conducted a case report in Familial dysbetalipoproteinemia (n=1). Diagnostic imaging and lipid profiling was evaluated. Bilateral prepatellar tuberous xanthomas may serve as the initial clinical and imaging indicator of a concealed underlying systemic lipid metabolic disorder such as familial dysbetalipoproteinemia.
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