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Anderson-Fabry disease in heart failure
1Institute of Cardiovascular Science, University College London, London, UK. drmajidakhtar@gmail.com.
Biophysical Reviews
|June 18, 2018
Summary
Anderson-Fabry disease, a genetic disorder, stems from a deficiency in alpha-galactosidase A. This leads to harmful lipid buildup, particularly affecting the heart and causing significant cardiovascular issues.
Area of Science:
- Genetics
- Biochemistry
- Cardiology
Background:
- Anderson-Fabry disease (AFD) is an X-linked lysosomal storage disorder.
- It is caused by mutations in the GLA gene, leading to alpha-galactosidase A enzyme deficiency.
- The actual incidence may be higher than the estimated 1 in 40,000-117,000 due to underdiagnosis.
Purpose of the Study:
- To summarize the pathology and clinical manifestations of Anderson-Fabry disease.
- To highlight the cardiac involvement and its associated risks.
Main Methods:
- Review of existing literature on Anderson-Fabry disease.
- Analysis of the molecular mechanisms of Gb3 accumulation.
- Examination of clinical data on cardiac manifestations.
Main Results:
- Alpha-galactosidase A deficiency causes globotriaosylceramide (Gb3) accumulation in lysosomes.
- Gb3 accumulation leads to inflammation, oxidative stress, and tissue remodeling.
- Cardiac involvement is prevalent, including hypertrophy, dysfunction, and conduction abnormalities.
Conclusions:
- Anderson-Fabry disease results in progressive Gb3 accumulation, causing multi-organ pathology.
- Cardiac manifestations in AFD significantly contribute to morbidity and mortality.
- Early diagnosis and management are crucial for mitigating cardiovascular complications.
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