TNFRSF1A and MEFV mutations have been associated with two major autoinflammatory disorders (TNF receptor-associated periodic syndromes and Familiar Mediterranean Fever, respectively) which may be complicated by AA amyloidosis. A 22-year-old woman was presenting with a new-onset nephrotic syndrome with normal renal function during the 35th week of pregnancy. She recalled of no previous illness except for HCV infection and when she was 3 year-old, an esophageal burn by caustic soda treated surgically. Neither she nor any family member had a history of recurrent abdominal pain and/or fever. The patient presented with a normal physical examination except for significant leg edema. Delivery had been induced prematurely in the 36th week. Blood serum levels included: creatinine 0.5 mg/dl, albumin 2.1 g/dl, cholesterol 328 mg/dl, CRP 17 mg/dl. Daily urinary total protein excretion ranged between 3.6 g to 5.1 g. Kidney biopsy performed three weeks after delivery showed abundant Congo-red-positive material in the blood vessel walls of arteries and arterioles in conjunction with glomerular and tubulointerstitial deposition. Subcutaneous abdominal fat and rectal submucosa biopsies were also performed. The first one was negative for amyloid deposition whereas rectal biopsy was diagnostic for AA amyloidosis. Increased level of Serum amyloid A protein (SAA) was found (591 ng/ml). No laboratory or echo signs of cardiac involvement were seen. Mild peripheral neuropathy was found. DNA analysis evidenced the co-existence of heterozygous TNFRSF1A p.R92Q and MEFV p.M694I mutations associated with several MEFV polymorphisms which could increase the proinflammatory signals. This is a unique case of TNFRSF1A/MEFV signalling alteration leading to an autoinflammatory syndrome where AA systemic amyloidosis is the sole manifestation.
Co-existence of TNFRSF1A and MEFV mutations causing AA amyloidosis as the sole manifestation: a case report
BALDOVINO, Simone;ROCCATELLO, Dario
2012-01-01
Abstract
TNFRSF1A and MEFV mutations have been associated with two major autoinflammatory disorders (TNF receptor-associated periodic syndromes and Familiar Mediterranean Fever, respectively) which may be complicated by AA amyloidosis. A 22-year-old woman was presenting with a new-onset nephrotic syndrome with normal renal function during the 35th week of pregnancy. She recalled of no previous illness except for HCV infection and when she was 3 year-old, an esophageal burn by caustic soda treated surgically. Neither she nor any family member had a history of recurrent abdominal pain and/or fever. The patient presented with a normal physical examination except for significant leg edema. Delivery had been induced prematurely in the 36th week. Blood serum levels included: creatinine 0.5 mg/dl, albumin 2.1 g/dl, cholesterol 328 mg/dl, CRP 17 mg/dl. Daily urinary total protein excretion ranged between 3.6 g to 5.1 g. Kidney biopsy performed three weeks after delivery showed abundant Congo-red-positive material in the blood vessel walls of arteries and arterioles in conjunction with glomerular and tubulointerstitial deposition. Subcutaneous abdominal fat and rectal submucosa biopsies were also performed. The first one was negative for amyloid deposition whereas rectal biopsy was diagnostic for AA amyloidosis. Increased level of Serum amyloid A protein (SAA) was found (591 ng/ml). No laboratory or echo signs of cardiac involvement were seen. Mild peripheral neuropathy was found. DNA analysis evidenced the co-existence of heterozygous TNFRSF1A p.R92Q and MEFV p.M694I mutations associated with several MEFV polymorphisms which could increase the proinflammatory signals. This is a unique case of TNFRSF1A/MEFV signalling alteration leading to an autoinflammatory syndrome where AA systemic amyloidosis is the sole manifestation.
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