Renal amyloidosis due to familial Mediterranean fever misdiagnosed

Abstract

Familial Mediterranean fever (FMF, MIM 249100) is an autosomal recessive disease affecting mainly patients of the Mediterranean basin. It is an autoinflammatory periodic disorder characterized by recurrent episodes of fever and abdominal pain, synovitis, and pleuritis. The major complication of FMF is the development of renal AA amyloidosis. Treatment with colchicine prevents the occurrence of recurrent seizures and renal amyloidosis. The disease is caused by mutations in the MEFV gene. We report here the cases of two unrelated patients, who have been late diagnosed with FMF complicated by renal amyloidosis. We focus on the importance of early diagnosis of FMF, both to start rapidly treatment with colchicine and avoid renal amyloidosis, and to provide genetic counseling to families.

Familial Mediterranean Fever Complicated by a Triad of Adrenal Crisis: Amyloid Goiter and Cardiac Amyloidosis

“…e development risk of AA amyloidosis is higher in patients with M694V MEFV gene mutation, alpha allele of the type 1 serum amyloid A protein, male gender, eastern Mediterranean origin, and a positive family history of AA amyloidosis [18,19]. is patient had significant risk factors to develop AA amyloidosis included male gender, M694V MEFV gene mutation, a positive family history, suboptimal daily dose of colchicine, and the patient's medication noncompliance.…”

“…In colchicine treatment adherent patients, the incidence rate of proteinuria development was 1.7% while it was 49% in nonadherent patients [22]. Other studies found that the risk of AA amyloidosis increased to 60% and 75% in untreated Turkish and Jewish patients aged 40 and above, respectively [19,23]. Renal AA amyloidosis usually presents with proteinuria and kidney injury and maybe complicated by ESRD.…”

“…Renal AA amyloidosis usually presents with proteinuria and kidney injury and maybe complicated by ESRD. Other manifestations of AA amyloidosis in FMF patients present mainly due to the increased life expectancy in dialysis and renal transplant patients [19,23]. Colchicine treatment can prevent the recurrent disease in transplant kidney patients [12].…”

Indirect evaluation of amyloid deposition by ultrasonography and its relationship with MEFV gene mutation in FMF patients

“…AA amyloidosis is widespread, with frequency rates ranging from 8.6% to 12.9% in FMF patients 8,9 . AA amyloidosis development risk is higher in the east Mediterranean‐originated male patients with M69V gene mutation and positive family AA amyloidosis history 4,10 …”

“…8,9 AA amyloidosis development risk is higher in the east Mediterranean-originated male patients with M69V gene mutation and positive family AA amyloidosis history. 4,10 Renal or submucosal rectal biopsies are used for showing amyloidosis deposition in tissues. Recently, there have been studies in the literature reporting that secondary findings of amyloidosis deposition can be shown in a non-invasive manner by ultrasonography and Doppler, and amyloid-dependent organ failure can be determined.…”