Autopsy findings in a patient with primary systemic AL (kappa light chain) amyloidosis
Felipe Lourenço Ledesma; Jussara Bianchi Castelli
Abstract
Keywords
References
1 Cohen AS, Connors LE. The pathogenesis and biochemistry of amyloidosis. J Pathol. 1987;151(1):1-10.
2 Glenner GG. Amyloid deposits and amyloidosis: the beta-fibrilloses (first of two parts). N Engl J Med. 1980;302(23):1283-92.
3 Gertz MA, Lacy MQ, Dispenzieri A. Amyloidosis. Hematol Oncol Clin North Am. 1999;13(6):1211-33, ix.
4 Benson MD, Buxbaum JN, Eisenberg DS, et al. Amyloid nomenclature 2020: update and recommendations by the International Society of Amyloidosis (ISA) nomenclature committee. Amyloid. 2020;27(4):217-22.
5 Buadi F. (2010) Localized amyloidosis. In: Gertz M, Rajkumar S, editors. Amyloidosis: contemporary hematology. Totowa, NJ: Humana Press.
6 Kyle RA, Gertz MA. Primary systemic amyloidosis: clinical and laboratory features in 474 cases. Semin Hematol. 1995;32(1):45-59. PMid:7878478.
7 Kyle RA, Bayrd ED. Amyloidosis: review of 236 cases. Medicine. 1975;54(4):271-99.
8 Fernández de Larrea C, Verga L, Morbini P, et al. A practical approach to the diagnosis of systemic amyloidoses. Blood. 2015;125(14):2239-44.
9 Palladini G, Merlini G. Diagnostic challenges of amyloidosis in Waldenström macroglobulinemia. Clin Lymphoma Myeloma Leuk. 2013;13(2):244-6.
10 Dubrey SW, Hawkins PN, Falk RH. Amyloid diseases of the heart: assessment, diagnosis, and referral. Heart. 2011;97(1):75-84.
11 Ebert EC, Nagar M. Gastrointestinal manifestations of amyloidosis. Am J Gastroenterol. 2008;103(3):776-87.
12 Levine RA. Amyloid disease of the liver. Correlation of clinical, functional and morphologic features in forty-seven patients. Am J Med. 1962;33(3):349-57.
13 Takayasu V, Laborda LS, Bernardelli R, et al. Amyloidosis: an unusual cause of portal hypertension. Autopsy Case Rep. 2016;6(2):9-18.
14 Pozzi C, Locatelli F. Kidney and liver involvement in monoclonal light chain disorders. Semin Nephrol. 2002;22(4):319-30.
15 Gertz MA, Leung N, Lacy MQ, et al. Clinical outcome of immunoglobulin light chain amyloidosis affecting the kidney. Nephrol Dial Transplant. 2009;24(10):3132-7.
16 Jerzykowska S, Cymerys M, Gil LA, Balcerzak A, Pupek-Musialik D, Komarnicki MA. Primary systemic amyloidosis as a real diagnostic challenge: case study. Cent Eur J Immunol. 2014;39(1):61-6.
17 Mollee P, Boros S, Loo D, et al. Implementation and evaluation of amyloidosis subtyping by laser-capture microdissection and tandem mass spectrometry. Clin Proteomics. 2016;13(1):30.
18 Rezk T, Gilbertson JA, Mangione PP, et al. The complementary role of histology and proteomics for diagnosis and typing of systemic amyloidosis. J Pathol Clin Res. 2019;5(3):145-53.
19 Raghunathan V, Louis D, Wirk B. Gastrointestinal tract amyloidosis presenting with pneumatosis intestinalis. J Clin Med Res. 2017;9(7):654-8.
20 Khalid F, Kaiyasah H, Binfadil W, Majid M, Hazim W, ElTayeb Y. Pneumatosis intestinalis due to gastrointestinal amyloidosis: a case report & review of literature. Int J Surg Case Rep. 2016;23:29-32.
21 Pearson DC, Price LM, Urbanski S. Pneumatosis cystoides intestinalis: an unusual complication of systemic amyloidosis. J Clin Gastroenterol. 1996;22(1):74-6.
22 Yamamoto A, Kawahito Y, Niimi M, et al. Pneumatosis intestinalis and hepatic portal venous gas caused by gastrointestinal perforation with amyloidosis. J Clin Gastroenterol. 2008;42(6):758-9.
23 Tada S, lida M, Iwashita A, et al. Endoscopic and biopsy findings of the upper digestive tract in patients with amyloidosis. Gastrointest Endosc. 1990;36(1):10-4.
24 Cichoż-Lach H, Prozorow-Król B, Swatek J, et al. Hepatomegaly, weight loss and general malaise: the first manifestations of primary systemic amyloidosis. Prz Gastroenterol. 2014;9(1):57-61. PMid:24868301.
25 Gaduputi V, Badipatla K, Patel H, Tariq H, Ihimoyan A. Primary Systemic Amyloidosis with Extensive Gastrointestinal Involvement. Case Rep Gastroenterol. 2013;7(3):511-5.
26 Flores-Bozo L-R, Echevarría-Keel J, Domínguez-Cherit J, Esquivel-Pedraza L, Méndez-Flores S. Mucocutaneous manifestations in systemic amyloidosis: a retrospective analytical study in a tertiary care center. Int J Dermatol. 2019;58(9):1062-8.
27 Agarwal A, Chang DS, Selim MA, Penrose CT, Chudgar SM, Cardones AR. Pinch purpura: a cutaneous manifestation of systemic amyloidosis. Am J Med. 2015;128(9):e3-4.
28 Gamba G, Montani N, Anesi E, et al. Clotting alterations in primary systemic amyloidosis. Haematologica. 2000;85(3):289-92. PMid:10702818.
29 Yildiz L, Kefeli M, Kose B, Baris S. Amyloid goiter: two cases and a review of the literature. Ann Saudi Med. 2009;29(2):138-41.
30 Arean VM, Klein RE. Amyloid goiter: review of the literature and report of a case. Am J Clin Pathol. 1961;36(4):341-55.
31 Sbai A, Wechsler B, Leenhardt L, et al. Case history amyloid goiter as the initial manifestation of systemic amyloidosis due to familial Mediterranean fever with homozygous MEFV mutation. Thyroid. 2001;11(4):397-400.
32 Hamed G, Heffess CS, Shmookler BM, Wenig BM. Amyloid goiter: a clinicopathologic study of 14 cases and review of the literature. Am J Clin Pathol. 1995;104(3):306-312.
33 Amado JA, Palacios S, Manzanos J, Ondiviela R, Casanova D, Freijanes J. Fast growing goiter as the first clinical manifestation of systemic amyloidosis. Postgrad Med J. 1982;58(677):171-2.
34 Westermark P, Benson L, Olofsson BO. Fine needle aspiration biopsy of abdominal subcutaneous fat tissue for the diagnosis and typing of amyloidosis. In: Glenner GG, Osserman EF, Benditt EP, Calkins E, Cohen AS, Zucker-Franklin D, editors. Amyloidosis. New York: Plenum Publishing Corporation; 1986. pp. 613-5.
35 Gertz MA, Li CY, Shirahama T, Kyle RA. Utility of subcutaneous fat aspiration for the diagnosis of systemic amyloidosis (immunoglobulin light chain). Arch Intern Med. 1988;148(4):929-33.
36 Duston MA, Skinner M, Meenan RF, Cohen AS. Sensitivity, specificity, and predictive value of abdominal fat aspiration for the diagnosis of amyloidosis. Arthritis Rheum. 1989;32(1):82-5.
37 Solé Arqués M, Campistol JM, Munoz-Gomez J. Abdominal fat aspiration biopsy in dialysis-related amyloidosis. Arch Intern Med. 1988;148(4):988.
38 van Gameren II, Hazenberg BP, Bijzet J, van Rijswijk MH. Diagnostic accuracy of subcutaneous abdominal fat tissue aspiration for detecting systemic amyloidosis and its utility in clinical practice. Arthritis Rheum. 2006;54(6):2015-21.
39 Bogov B, Lubomirova M, Kiperova B. Biopsy of subcutaneous fatty tissue for diagnosis of systemic amyloidosis. Hippokratia. 2008;12(4):236-9. PMid:19158968.
Submitted date:
02/22/2021
Accepted date:
02/28/2021
Publication date:
05/06/2021