Having Fabry may be ‘independent risk factor’ for heart issues, per case
Middle-aged man developed narrowing of arteries despite treatment
Written by |
A middle-aged man with Fabry disease developed severe narrowing in all three major heart arteries despite receiving standard treatment and having well-controlled traditional cardiovascular risk factors, a case study from China reported.
Tests revealed rapidly worsening coronary disease, with narrowing in the arteries that supply blood to the heart, along with unstable fatty buildup, or plaques, that had ruptured or formed blood clots. The testing “indicated multiple vulnerable plaques” and “revealed severe triple-vessel disease,” the researchers noted, adding that the results also “suggested an underlying inflammatory state.”
According to the scientists, these findings raise the possibility that having Fabry may increase the risk of atherosclerosis — the buildup of fatty material inside arteries — and that inflammation may contribute to faster disease progression.
“This case suggests that Fabry disease itself may constitute a strong, independent risk factor for atherosclerosis,” the team wrote, noting that these findings “[extend] beyond the scope of traditional risk factor assessment.”
“Clinicians should be vigilant for rapid coronary progression in patients with Fabry disease,” the researchers wrote.
The report, “Rapid Progression of Coronary Disease in Fabry Disease: Vulnerable Plaque by Intravascular Ultrasound,” was published in the journal JACC: Case Reports.
Fabry is caused by mutations in the GLA gene, which lead to reduced activity of alpha-galactosidase A, an enzyme that breaks down certain fatty molecules. Without enough of the enzyme, these molecules accumulate inside cells and can damage several organs, including the kidneys and heart. A patient’s nervous system and blood vessels can also be affected.
Enzyme replacement therapy (ERT), a standard treatment, supplies a lab-made version of the missing enzyme and is intended to reduce this buildup and slow organ damage. However, it remains unclear how well ERT protects against rapidly worsening coronary disease, affecting the arteries supplying the heart.
Man had no family history of early heart artery disease
In this report, a trio from the University of Hong Kong-Shenzhen Hospital described the case of a 43-year-old man who started experiencing unusual chest tightness in 2019. A coronary computed tomography angiography (CTA) scan showed only mild narrowing of his heart arteries.
He was diagnosed with classic Fabry disease following genetic testing in 2021 and began regular treatment with ERT in January 2022.
Over the next two years, routine assessments indicated that his cardiac structure and function were relatively stable. He had no significant worsening of heart muscle thickening, his heart’s pumping function remained normal, and blood markers of heart damage were within normal limits, according to the researchers.
Although he had previously smoked, he had stopped two years earlier, and did not have high blood pressure or diabetes. He also had no family history of early heart artery disease, the researchers noted.
The man had also been taking aspirin for blood clot prevention, losartan for blood pressure and kidney protection, and atorvastatin for cholesterol since 2019.
In 2025, however, he began experiencing chest pain for two to three minutes while walking fast or cycling. The pain went away with rest.
He was diagnosed with exertional angina, meaning chest pain caused by reduced blood flow to the heart muscle.
A new CTA scan showed severe, widespread disease affecting all three major heart arteries, and follow-up tests confirmed a narrowing across all these blood vessels.
Researchers recommend vigilance for heart issues in Fabry
Doctors also performed an intravascular ultrasound, which uses a small ultrasound probe inside an artery to examine its walls. The researchers noted that the exam revealed several fat-rich, unstable plaques, including areas of plaque rupture and blood clot formation — features that can raise the risk of a heart attack.
Blood work showed elevated levels of C-reactive protein, a marker of generalized inflammation. He also tested positive for markers associated with certain autoimmune diseases.
Although he did not meet the criteria for a specific autoimmune disease, the doctors suspected that abnormal immune activation may have contributed to the rapid artery damage alongside Fabry-related blood vessel disease.
Physicians used stents and a drug-coated balloon to open the narrowed heart arteries and restore blood flow. The man also began a more intensive medication regimen, which included colchicine, an anti-inflammatory medication. He continued on ERT and losartan.
Blood flow was successfully restored, and the man’s chest pain resolved. He continued the treatment regimen after discharge, with plans for regular follow-up, including repeated heart artery imaging and monitoring of cholesterol and inflammatory markers.
This [case] highlights that patients with Fabry disease should be considered at very high risk for coronary artery disease, warranting early and proactive cardiovascular assessment.
While this report describes a single patient, the researchers say their findings indicate that people with Fabry may remain at risk of rapidly worsening heart artery disease even when they receive regular treatment and their traditional cardiovascular risk factors are well controlled.
“This [case] highlights that patients with Fabry disease should be considered at very high risk for coronary artery disease, warranting early and proactive cardiovascular assessment,” the team wrote.
Fabry-related blood vessel damage and inflammation may both contribute to this risk, the researchers suggested.
“Clinical management should integrate advanced imaging, intensive lipid-lowering, and individualized anti-inflammatory strategies,” the researchers concluded.
Leave a comment
Fill in the required fields to post. Your email address will not be published.