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Genetic Analysis of Hereditary Transthyretin Ala97Ser Related Amyloidosis
Published on: June 9, 2018
AA amyloidosis associated with morbid obesity (clinical case)
Nana Beridze Vaktangova1, Vanesa García Moreira1, Sandra García Castañón1
1Clinical Analysis Service, Cabueñes Hospital, 33394 Gijón, Asturias, Spain.
Abstract:
We present the case of a 45-year-old woman who was hospitalized due to severe macrocytic anemia and renal failure. The patient presented a morbid obesity. The immunological study showed anti-ENA anti-SSA (Ro52) positive, with negative antinuclear antibodies. Also in the proteinogram (serum immunofixation) the presence of monoclonal bands IgG lambda and IgG kappa, monoclonal component 7.2% (4.68g/L), with elevation of free light chains (kappa 95.94mg/L (3.3-19.4), evidenced, lambda 145.17mg/L (5.71-26.3)). The bone marrow study showed an infiltration of 5% of plasma cells and positive for AA amyloid. Finally, a percutaneous renal biopsy was performed, which again showed amyloid infiltration. In the genetic study, 2 mutations of the family Mediterranean fever gene (MEFV) have been identified. Secondary AA amyloidosis has been described associated with obesity, in addition to a percentage of cases of unknown etiology.
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