Keyword: Secondary amyloidosis (AA)
1 result found.
Case Report
Central Asian Journal of Nephrology, 1(2), 2025, cajn008, https://doi.org/10.63946/cajn/17421
ABSTRACT:
Familial Mediterranean Fever (FMF) is an autosomal recessive autoinflammatory disorder caused by mutations in the MEFV gene. It is most common among populations from the Eastern Mediterranean region, including Turks, Armenians, Arabs, and Sephardic Jews. One of the most serious complications of FMF is AA amyloidosis, which develops as a result of chronic inflammation and the deposition of serum amyloid A protein. AA amyloidosis frequently affects the kidneys, leading to nephrotic syndrome and chronic kidney disease.
We report a case of a 17-year-old Turkish male presenting with recurrent episodes of fever, joint pain, periodic skin rashes, and intermittent hypertension. Laboratory evaluation revealed nephrotic-range proteinuria, hypoalbuminemia, low serum IgG, and elevated inflammatory markers. Renal biopsy confirmed AA amyloidosis with moderate interstitial lymphocytic infiltration and mild fibrosis. Genetic testing identified a homozygous pathogenic variant in exon 10 of the MEFV gene (p.Met694Val), previously reported and strongly associated with FMF.
This case highlights the rarity of such presentations and emphasizes the importance of early diagnosis of FMF complicated by AA amyloidosis. The patient remains on colchicine therapy with careful monitoring for potential complications; corticosteroids were gradually tapered following confirmation of amyloidosis, with supportive and symptomatic management continued.
We report a case of a 17-year-old Turkish male presenting with recurrent episodes of fever, joint pain, periodic skin rashes, and intermittent hypertension. Laboratory evaluation revealed nephrotic-range proteinuria, hypoalbuminemia, low serum IgG, and elevated inflammatory markers. Renal biopsy confirmed AA amyloidosis with moderate interstitial lymphocytic infiltration and mild fibrosis. Genetic testing identified a homozygous pathogenic variant in exon 10 of the MEFV gene (p.Met694Val), previously reported and strongly associated with FMF.
This case highlights the rarity of such presentations and emphasizes the importance of early diagnosis of FMF complicated by AA amyloidosis. The patient remains on colchicine therapy with careful monitoring for potential complications; corticosteroids were gradually tapered following confirmation of amyloidosis, with supportive and symptomatic management continued.
