P02-019 - Detection of risk factors for AA-amyloidosis
2013
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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