JACC Case Rep. 2026 Jun 27:109083. doi: 10.1016/j.jaccas.2026.109083. Online ahead of print.
ABSTRACT
BACKGROUND: Mechanisms of rapidly progressive coronary disease in young Fabry patients despite standard therapy remain unclear.
CASE SUMMARY: A 43-year-old man with classic Fabry disease developed exertional angina despite receiving enzyme replacement therapy and having well-controlled traditional risk factors. Coronary angiography revealed severe triple-vessel disease, and intravascular ultrasound indicated multiple vulnerable plaques. Positive autoantibodies and elevated C-reactive protein suggested an underlying inflammatory state. Management included percutaneous intervention, intensive lipid-lowering, and the addition of colchicine.
DISCUSSION: This case suggests that Fabry disease itself may constitute a strong, independent risk factor for atherosclerosis, and secondary inflammation may further accelerate plaque progression, extending beyond the scope of traditional risk factor assessment.
TAKE-HOME MESSAGE: Clinicians should be vigilant for rapid coronary progression in patients with Fabry disease. Intravascular imaging and immune evaluation can help uncover the underlying mechanisms, and comprehensive management might benefit from intensive lipid-lowering and anti-inflammatory therapy.
PMID:42363928 | DOI:10.1016/j.jaccas.2026.109083