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2013•Pediatric RheumatologyOpen access

P02-019 - Detection of risk factors for AA-amyloidosis

Shorin Nemeth, Laura Piera Obici, Sylvie Grandemange, Helen Jane Lachmann, Christian Oberkanins

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Abstract

Systemic reactive (AA) amyloidosis represents the most important complication within TNF receptor associated periodic syndrome (TRAPS), familial Mediterranean fever (FMF) and other autoinflammatory syndromes, progressively leading to endstage renal failure. The homozygous condition of the serum amyloid A (SAA) variant SAA1.1 is significantly associated with the occurrence of AA amyloidosis in TRAPS patients. Likewise in FMF patients the MEFV mutation c.2080A>G (M694V) correlates with amyloidosis and the SAA1.1/SAA1.1 genotype increases clinical severity (age at disease onset, amyloidosis, arthritis).

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Systemic reactive (AA) amyloidosis represents the most important complication within TNF receptor associated periodic syndrome (TRAPS), familial Mediterranean fever (FMF) and other autoinflammatory syndromes, progressively leading to endstage renal failure. The homozygous condition of the serum amyloid A (SAA) variant SAA1.1 is significantly associated with the occurrence of AA amyloidosis in TRAPS patients. Likewise in FMF patients the MEFV mutation c.2080A>G (M694V) correlates with amyloidosis and the SAA1.1/SAA1.1 genotype increases clinical severity (age at disease onset, amyloidosis, arthritis).

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Available abstract

Systemic reactive (AA) amyloidosis represents the most important complication within TNF receptor associated periodic syndrome (TRAPS), familial Mediterranean fever (FMF) and other autoinflammatory syndromes, progressively leading to endstage renal failure. The homozygous condition of the serum amyloid A (SAA) variant SAA1.1 is significantly associated with the occurrence of AA amyloidosis in TRAPS patients. Likewise in FMF patients the MEFV mutation c.2080A>G (M694V) correlates with amyloidosis and the SAA1.1/SAA1.1 genotype increases clinical severity (age at disease onset, amyloidosis, arthritis).

Key concepts: Familial Mediterranean fever, Medicine, Amyloidosis, AA amyloidosis, MEFV, Serum amyloid A, Internal medicine, Rheumatology

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