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Genetics, cardiac phenotype and cardiovascular outcomes in Fabry disease patients in Finland
Kati Valtola1, Päivi Pietilä-Effati2, Jonna M E Männistö3
1Heart Center of Kuopio University Hospital, Kuopio, Finland.
Insights
Finnish Fabry disease (FD) patients exhibit diverse genetics and a high prevalence of symptomatic women. Fabry cardiomyopathy is common in both sexes, leading to severe cardiovascular events and mortality, underscoring the need for vigilant cardiac monitoring.
Area of Science:
- Genetics
- Cardiology
- Rare Diseases
Background:
- Fabry disease (FD) is a rare genetic disorder affecting multiple organs.
- Understanding the genetic landscape and clinical manifestations in specific populations is crucial.
Purpose of the Study:
- To investigate the genetic variants, cardiac phenotype, and cardiovascular outcomes in Finnish patients with Fabry disease.
- To assess the prevalence and characteristics of Fabry cardiomyopathy (FC) and its association with clinical events.
Main Methods:
- Retrospective analysis of 109 Finnish Fabry disease patients diagnosed by 2018.
- Data collection on genetics, phenotypes, cardiac imaging (including CMR with LGE), and cardiovascular outcomes from the Fabry Registry and medical records.
- Follow-up of 97 patients for a mean of 12 years.
Main Results:
- 22 different GLA variants were identified in 26 families, with p.R227X, p.A143T, and p.P409A being most common.
- Most females (95%) were symptomatic, and Fabry cardiomyopathy (FC) was present in 66% of males and 49% of females, manifesting from their 20s and 40s, respectively.
- FC was associated with high rates of atrial fibrillation (30%), stroke (32%), heart failure (26%), and mortality (20% in FC patients), particularly in those with cardiomyopathy.
Conclusions:
- Fabry disease in Finland is caused by various GLA variants, with a predominantly classic phenotype.
- Contrary to prior studies, most Finnish women with FD are symptomatic, and FC is prevalent and severe, occurring early in women.
- Findings emphasize the need for enhanced cardiac monitoring, including regular cardiac magnetic resonance (CMR) imaging, for all FD patients, especially females.
Aims:
To investigate the genetics, cardiac phenotype and cardiovascular outcomes of Finnish Fabry patients.
Methods And Results:
Among the 109 patients with Fabry disease (FD) diagnosed in Finland by 2018, 97 (89%; 32 males and 65 females, mean ages 42 and 52 years) were followed for a mean of 12 years. Data on genetics, phenotypes, cardiac imaging and cardiovascular outcomes were collected from the Fabry Registry and medical records. The 26 families with FD harboured 22 different hemi-/heterozygous GLA variants, most commonly p.R227X, p.A143T or p.P409A. The Fabry phenotype in males was classic in 19 (59%), late-onset in 10 (31%) and intermediate in 3 (9%) patients. Among the females, 62 (95%) were symptomatic. Fabry cardiomyopathy (FC, maximal left ventricular wall thickness ≥13 mm, or an increased cardiac mass and decreased T1 time, or typical late gadolinium enhancement (LGE) in CMR) was present in 21 (66%) males manifesting since their 20s, and in 32 (49%) females since their 40s. LGE in CMR was detected in most subjects with cardiomyopathy, particularly in females. Among the 53 patients with FC, 16 (30%) developed atrial fibrillation, 17 (32%) stroke, 14 (26%) heart failure (HF) and 3 (6%) end-stage renal disease. Nine patients died during the follow-up at mean ages of 48 (males) and 75 years (females), three of whom died from HF and three from stroke. Eight of those who died had cardiomyopathy.
Conclusions:
In Finland, FD is caused by multiple GLA variants. Classic phenotype is more common. Contrasting previous studies, most women are symptomatic. Cardiomyopathy is very common also in women since their 40s and associates with atrial fibrillation, HF, stroke and death, emphasizing the malignant natural course of FC. Our findings highlight the need for even more diligent monitoring of cardiac manifestations also in females with FD by regular cardiac imaging with CMR.
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