Effective and safe use of alirocumab in spinal and bulbar muscular atrophy with high cardiovascular risk: a case report

S. Muscoli, L. Colarocchio, D. Koukorini, G. di Bartolomeo, L. Renzi, F. Pocelli, R. Desimone, F. Moretti, G. Gentile, G. Pino, A. Novelli, A. Natale, G.M. Sangiorgi

Division of Cardiology, Policlinico Tor Vergata, Rome, Italy. saveriomuscoli@gmail.com 

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• Pharmacology

BACKGROUND: Spinal and bulbar muscular atrophy (SBMA) is a rare X-linked neuromuscular disorder characterized by progressive muscle weakness and endocrine abnormalities. Beyond its classic neurological presentation, SBMA is increasingly associated with metabolic and cardiovascular comorbidities, including dyslipidemia and insulin resistance.  

CASE REPORT: We present the case of a 54-year-old male with genetically confirmed SBMA and high cardiovascular risk, in whom statins and ezetimibe were contraindicated due to persistently elevated creatine kinase levels and underlying muscle involvement. Coronary CT angiography revealed subclinical atherosclerosis. Alirocumab, a PCSK9 inhibitor, was initiated at a dose of 150 mg every 2 weeks. After six months, LDL cholesterol was reduced by 54.9% without adverse effects or functional decline, and CK levels remained stable.  

CONCLUSIONS: This case highlights the potential role of PCSK9 inhibitors as a safe and effective lipid-lowering option in patients with neuromuscular disorders at high cardiovascular risk, for whom traditional therapies are not feasible. It also highlights the importance of integrated cardiovascular care in managing multisystem diseases, such as SBMA. 

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