Fabry disease and chest pain: coronary spasm the simple cause? Case from Vivantes Friedrichshain Berlin

Introduction:

Fabry's disease is a rare X-linked lysosomal storage disorder caused by deficient activity of the enzyme alpha-galactosidase A. This deficiency leads to the accumulation of globotriaosylceramide (Gb3) in various tissues, resulting in symptoms such as pain, kidney dysfunction, skin lesions, and cardiac issues, including left ventricular hypertrophy, arrhythmia, shortness of breath, and angina pectoris. The etiology of angina pectoris in these patients remains unclear. Despite frequent symptoms, patients with Fabry’s disease have a lower incidence of myocardial infarction compared to those with coronary artery stenosis alone.

Case:

A 41-year-old female with a prior diagnosis of Fabry’s disease presented to the emergency department (ED) with recurrent angina pectoris symptoms. She had experienced chest pain for approximately 5-7 years. The initial diagnosis of Fabry’s disease was made at age 38 due to an unclear kidney disease, and she was on enzyme replacement therapy. Her chest pain, attributed to Fabry's disease-associated pain syndrome, was poorly managed with analgesics. Cardiac MRI and myocardial biopsy conducted a few months prior confirmed cardiac involvement of Fabry's disease. In the ED, ECG showed no acute ischemia, echocardiography revealed intact left ventricular function, but elevated cardiac enzymes necessitated an invasive workup for myocardial infarction. Coronary angiography ruled out significant coronary artery disease, and further evaluation for MINOCA (myocardial infarction with non-obstructive coronary arteries) via coronary physiological assessment was performed. Acetylcholine challenge revealed severe diffuse epicardial coronary spasm with >90% constriction in the LCX and borderline significant spasm in the left main stem (approximately 75% constriction), triggering her typical chest pain and corresponding ST depression on ECG. No microvascular dysfunction (CMD) was observed as IMR (index of microcirculatory resistance) and CFR (coronary flow reserve) were normal.

A calcium antagonist regimen was initiated and progressively increased. After 12 weeks of treatment with Diltiazem 180 mg twice daily, the patient experienced significant symptom improvement, allowing for a substantial reduction in analgesic use.

Conclusion:

Coronary spasm can occur in patients with Fabry's disease. In those presenting with typical angina symptoms, comprehensive cardiological evaluation, including coronary physiological assessment, should be performed to achieve accurate diagnosis and effective symptom management. Current studies indicate that coronary spasm is common in systemic diseases, underscoring the need for further research with larger sample sizes.