Severe Atherogenic Dyslipidemia in Ataxia-Telangiectasia Despite Cachexia: Mechanistic Insights into Mitochondrial Dysfunction.
Samuele F Petridis, Ron T Varghese
✦ AI-curated · Sources linked
Case in brief
A 25-year-old woman with genetically confirmed ataxia-telangiectasia and extreme underweight (body mass index 12.5 kg/m²) developed severe mixed atherogenic dyslipidemia despite modest dietary fat intake and no pathogenic variants for monogenic familial hypercholesterolemia. Triglycerides reached 426 mg/dL, LDL cholesterol 174 mg/dL, and apolipoprotein B 156 mg/dL; she also had type 2 diabetes and steatotic liver disease with fibrosis. Statin therapy was stopped after transaminase elevation in the setting of liver disease. Ezetimibe reduced LDL cholesterol to 149 mg/dL; adding evolocumab lowered it to 35 mg/dL, with triglycerides improving to 220 mg/dL.
What made this case unusual
The severe atherogenic lipid profile occurred despite profound underweight and modest dietary fat intake, without identified monogenic familial hypercholesterolemia variants.
Diagnostic / clinical pearl
In ataxia-telangiectasia, severe dyslipidemia may coexist with cachexia and other metabolic complications; assess the lipid phenotype rather than assuming low body weight excludes substantial cardiometabolic risk.
Why it matters
The case supports careful cardiometabolic surveillance in adults with ataxia-telangiectasia, whose metabolic complications may extend beyond the disorder’s neurologic and immunologic features.