Unexpected finding of AA amyloidosis with novel genetic variants in the MEFV gene in patients undergoing kidney biopsy for proteinuria. A case series.
Beyza Doğan, Süleyman Karaköse, Edip Erkuş et al.
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Case in brief
The report describes patients undergoing kidney biopsy for proteinuria in whom AA amyloidosis was identified, alongside MEFV gene variants. The abstract frames the cases as a spectrum of clinical presentations and diagnostic challenges, with variants beyond the well-recognised M694V mutation, including heterozygous and less common variants. It does not provide individual patient details, specific variants, treatments, or outcomes, so the diagnostic course and resolution cannot be described further.
What made this case unusual
AA amyloidosis was found during biopsy for proteinuria in patients carrying heterozygous or less common MEFV variants, rather than the focus being limited to the recognised M694V risk variant.
Diagnostic / clinical pearl
When AA amyloidosis is identified, consider the potential relevance of heterozygous or less common MEFV variants; the report highlights that these may be overlooked.