Bevezetés: A könnyűlánc-amyloidosis immunglobulinok könnyűláncaiból származó fibrilláris anyag extracelluláris lerakódása következtében kialakuló kórkép. Célkitűzés: A szerzők célja a szívérintettség, a kezelés és a myeloma fennállásának függvényében a túlélési idők meghatározása. Módszer: Retrospektív kohorszvizsgálatban 29, 2005–2014 között intézményünkben kezelt könnyűlánc-amyloidosisos beteg dokumentációját használtuk fel. Eredmények: Primer könnyűlánc-amyloidosist 21 esetben diagnosztizáltuk. A betegek 27,6%-ában a könnyűlánc-amyloidosishoz myeloma is társult. Az amyloidogen könnyűlánc 13 betegben kappa, 16 esetben lambda típusú volt. A folyamat 17 beteg esetében ≥3, 8 esetében 2, 4 esetében 1 szervre terjedt ki. A tünetek alapján a szív 22 esetben volt érintett. A szívérintettség fordítottan korrelált a túléléssel. Tizenöt beteg (52%) csak kemoterápiában, míg 14 (48%) autológ őssejt-transzplantációban részesült. A medián túlélés 87, illetve 11,4 hónap volt. Két betegnél történt szívtranszplantáció. Ők a beavatkozást 70, illetve 30 hónappal élték túl. A medián teljes túlélés 75,8 hónapnak adódott. Következtetések: Szívtranszplantációt követő autológ őssejtátültetés a betegség progresszióját feltartóztathatja. Orv. Hetil., 2015, 156(39), 1577–1584.
Gertz, M. A., Kyle, R. A., Noel, P.: Primary systemic amyloidosis: a rare complication of immunoglobulin M monoclonal gammopathies and Waldenström’s macroglobulinemia. J. Clin. Oncol., 1993, 11(5), 914–920.
Gillmore, J. D., Wechalekar, A., Bird, J., et al.: Guidelines on the diagnosis and investigation of AL amyloidosis. Br. J. Haematol., 2015, 168(2), 207–218.
Kyle, R. A., Gertz, M. A.: Primary systemic amyloidosis: clinical and laboratory features in 474 cases. Semin. Hematol., 1995, 32(1), 45–59.
Kyle, R. A.: Amyloidosis: a convoluted story. Br. J. Haematol., 2001, 114(3), 529–538.
Gorevic, P. D.: Overview of amyloidosis. In: Schur, P. H. (ed.): UpToDate. UpToDate, Waltham, MA, 2012.
Gertz, M. A.: Immunoglobulin light chain amyloidosis: 2014 update on diagnosis, prognosis, and treatment. Am. J. Hematol., 2014, 89(12), 1132–1140.
Lachmann, H. J., Booth, D. R., Booth, S. E., et al.: Misdiagnosis of hereditary amyloidosis as AL (primary) amyloidosis. N. Engl. J. Med., 2002, 346(23), 1786–1791.
Comenzo, R. L., Zhou, P., Fleisher, M., et al.: Seeking confidence in the diagnosis of systemic AL (Ig light-chain) amyloidosis: patients can have both monoclonal gammopathies and hereditary amyloid proteins. Blood, 2006, 107(9), 3489–3491.
Bochtler, T., Hegenbart, U., Kunz, C., et al.: Translocation t(11;14) is associated with adverse outcome in patients with newly diagnosed AL amyloidosis when treated with bortezomib-based regimens. J. Clin. Oncol., 2015, 33(12), 1371–1378.
Rajkumar, S. V.: Clinical presentation, laboratory manifestations, and diagnosis of immunoglobulin light chain (AL) amyloidosis (primary amyloidosis). In: Glassock, R. J. (ed.): UpToDate. UpToDate, Waltham, MA. (Accessed on May 4, 2015; last updated: July 1, 2015.)
Van Gameren, I. I., Hazenberg, B. P., Bijzet, J., et al.: Diagnostic accuracy of subcutaneous abdominal fat tissue aspiration for detecting systemic amyloidosis and its utility in clinical practice. Arthritis Rheum., 2006, 54(6), 2015–2021.
Gertz, M. A., Li, C. Y.: Utility of subcutaneous fat aspiration for the diagnosis of systemic amyloidosis (immunoglobulin light chain). Arch. Intern. Med., 1988, 148(4), 929–933.
Crookston, K., Gober-Wilcox, J.: Amyloidosis. 2013. http://www.pathologyoutlines.com/topic/coagulationamyloidosis.html
Andrews, T. R., Colon-Otero, G., Calamia, K. T., et al.: Utility of subcutaneous fat aspiration for diagnosing amyloidosis in patients with isolated peripheral neuropathy. Mayo Clin. Proc., 2002, 77(12), 1287–1290.
Guy, C. D., Jones, C. K.: Abdominal fat pad aspiration biopsy for tissue confirmation of systemic amyloidosis: specificity, positive predictive value, and diagnostic pitfalls. Diagn. Cytopathol., 2001, 24(3), 181–185.
Van Gameren, I. I., Hazenberg, B. P., Bijzet, J., et al.: Diagnostic accuracy of subcutaneous abdominal fat tissue aspiration for detecting systemic amyloidosis and its utility in clinical practice. Arthritis Rheum., 2006, 54(6), 2015–2021.
Merlini, G., Wechalekar, A. D., Palladini, G.: Systemic light chain amyloidosis: an update for treating physicians. Blood, 2013, 121(26), 5124–5130.
Dinner, S., Witteles, W., Afghahi, A., et al.: Lenalidomide, melphalan and dexamethasone in a population of patients with immunoglobulin light chain amyloidosis with high rates of advanced cardiac involvement. Haematologica, 2013, 98(10), 1593–1599.
Comenzo, R. L., Zhang, Y., Martinez, C., et al.: The tropism of organ involvement in primary systemic amyloidosis: contributions of IgVL germ line gene use and clonal plasma cell burden. Blood, 2001, 98(3), 714–720.
Choufani, E. B., Sanchorawala, V., Ernst, T. et al.: Acquired factor X deficiency in patients with amyloid light-chain amyloidosis: incidence, bleeding manifestations, and response to high-dose chemotherapy. Blood, 2001, 97(6), 1885–1887.
Landau, H., Hassoun, H., Rosenzweig, M. A., et al.: Bortezomib and dexamethasone consolidation following risk-adapted melphalan and stem cell transplantation for patients with newly diagnosed light-chain amyloidosis. Leukemia, 2013, 27(4), 823–828.
Comenzo, R. L., Fein, D. E., Hassoun, H., et al.: Long-term outcomes of patients with systemic light chain amyloidosis (AL) treated at diagnosis with risk-adapted stem cell transplant and consolidation with novel agents. Blood, 2012, 120(21), Abstract 3150.
Sanchorawala, V., Brauneis, D., Shelton, A. C., et al.: Induction therapy with bortezomib followed by bortezomib-high dose melphalan and stem cell transplantation for light chain amyloidosis: results of a prospective clinical trial. Biol. Blood Marrow Transplant., 2015, 21(8), 1445–1451.
Mikhael, J. R., Schuster, S. R., Jimenez-Zepeda, V. H., et al.: Cyclophosphamide-bortezomib-dexamethasone (CyBorD) produces rapid and complete hematologic response in patients with AL amyloidosis. Blood, 2012, 119(19), 4391–4394.
Kastritis, E., Roussou, M., Gavriatopoulou, M., et al.: Long-term outcomes of primary systemic light chain (AL) amyloidosis in patients treated upfront with bortezomib or lenalidomide and the importance of risk adapted strategies. Am. J. Hematol., 2015, 90(4), E60–E65.
Gatt, M. E., Hardan, I., Chubar, E., et al.: Outcomes of light chain amyloidosis patients treated with first line bortezomib: a collaborative retrospective multicenter assessment. Eur. J. Haematol., 2015 Mar 31. . [Epub ahead of print]
Rajkumar, S. V.: Prognosis and treatment of immunoglobulin light chain (AL) amyloidosis and light and heavy chain deposition diseases. In: Glassock, R. J. (ed.): UpToDate. UpToDate, Waltham, MA. (Accessed on June 3, 2015; last updated: Aug 6, 2015.)
Jaccard, A., Moreau, P., Leblond, V., et al.: High-dose melphalan versus melphalan plus dexamethasone for AL amyloidosis. N. Engl. J. Med., 2007, 357(11), 1083–1093.
Van Gameren, I. I., van Rijswijk, M. H., Bijzet, J., et al.: Histological regression of amyloid in AL amyloidosis is exclusively seen after normalization of serum free light chain. Haematologica, 2009, 94(8), 1094–1100.
Kongtim, P., Qazilbash, M. H., Shah, J. J.: High-dose therapy with auto-SCT is feasible in high-risk cardiac amyloidosis. Bone Marrow Transplant., 2015, 50(5), 668–672.
Afrough, A., Saliba, R. M., Hamdi, A.: Outcome of patients with immunoglobulin light-chain amyloidosis with lung, liver, gastrointestinal, neurologic and soft tissue involvement after autologous hematopoietic stem cell transplantation. Biol. Blood Marrow Transplant., 2015, 21(8), 1413–1417.
Gertz, M., Lacy, M., Dispenzieri, A., et al.: Troponin T level as an exclusion criterion for stem cell transplantation in light-chain amyloidosis. Leuk. Lymphoma, 2008, 49(1), 36–41.
Merlini, G., Seldin, D. C., Gertz, M. A.: Amyloidosis: pathogenesis and new therapeutic options. J. Clin. Oncol., 2011, 29(14), 1924–1933.
Dey, B. R., Chung, S. S., Spitzer, T. R., et al.: Cardiac transplantation followed by dose-intensive melphalan and autologous stem-cell transplantation for light chain amyloidosis and heart failure. Transplantation, 2010, 90(8), 905–911.
Sattianayagam, P. T., Gibbs, S. D., Pinney, J. H., et al.: Solid organ transplantation in AL amyloidosis. Am. J. Transplant., 2010, 10(9), 2124–2131.