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AA amyloidosis associated with Fabry disease
Alexandre Terré1, Bertrand Knebelmann2, David Buob3
1Service de médecine interne, Centre de référence des maladies auto-inflammatoires et des amyloses d'origine inflammatoire (CEREMAIA), AP-HP, Hôpital Tenon, Sorbonne Université, Paris, France.
International Journal of Clinical Practice
|June 10, 2020
Summary
Fabry disease (FD), a lysosomal storage disorder, can be associated with AA amyloidosis (AAA). This suggests an underlying inflammatory component may contribute to the progression of FD.
Area of Science:
- Genetics and Rare Diseases
- Lysosomal Storage Disorders
- Nephrology and Immunology
Background:
- Fabry disease (FD) is a prevalent lysosomal storage disorder with significant morbidity and mortality.
- Emerging evidence links lysosomal storage disorders to inflammation and AA amyloidosis (AAA).
Observation:
- This study details three female patients with co-occurring FD and AAA, including two from Europe and one from Algeria.
- All patients carried heterozygous GLA mutations, with a median age of 61 years at AAA diagnosis.
Findings:
- The diagnosis of FD preceded or coincided with AAA diagnosis in all cases.
- Nephrotic syndrome was present in two patients at AAA diagnosis, and all exhibited inflammation.
- These findings highlight a potential link between FD and AAA.
Implications:
- Fabry disease may be associated with AA amyloidosis, indicating an inflammatory component in its pathophysiology.
- Further research into the inflammatory mechanisms in FD is warranted to explore potential therapeutic targets.
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