Spontaneous rupture of the liver in a patient with systemic AL amyloidosis undergoing treatment with high-dose melphalan and autologous stem cell transplantation: A case report with literature review

Graduate Medical Sciences Division, Boston University School of Medicine, Boston, Massachusetts, USA.
Amyloid: the international journal of experimental and clinical investigation: the official journal of the International Society of Amyloidosis (Impact Factor: 2.01). 01/2009; 16(2):103-7. DOI: 10.1080/13506120902879574
Source: PubMed

ABSTRACT A 55-year-old woman with primary Immunoglobulin light chain (AL) systemic amyloidosis died due to spontaneous rupture of her liver following treatment with high-dose melphalan and autologous stem cell transplant (HDM/SCT). She was first diagnosed after developing nephrotic-range proteinuria. Spontaneous rupture of her liver occurred 10 days after treatment with HDM/SCT and was complicated by septic shock. She was not eligible for surgical intervention and died shortly after. Amyloid fibrils were extracted from the autopsied liver sample (05-135L) and the biochemical nature of the fibrils was analyzed using electrophoretic and immunohistochemical techniques. Our testing showed that the fibrils were composed of immunoglobulin lambda light chains that were not glycosylated. While the liver is often involved in AL amyloidosis, this is the first documented case of a spontaneous hepatic rupture in a patient during treatment with HDM/SCT. A literature review of spontaneous liver rupture in patients with amyloidosis is presented.

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    • "Light chains are deposited in the majority of bodily organs, most commonly in the kidneys, the heart and the peripheral nervous system [1]. Accumulation of amyloids in the liver produces hepatomegaly in 33–92% of patients, as well as moderate jaundice and moderate to severe cholestasis, but hardly ever results in organ insufficiency or portal hypertension that may be accompanied by sub-capsular haematomas and spontaneous rupture of the liver [2, 3]. This type of amyloidosis may also be present in multiple myeloma. "
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    ABSTRACT: Amyloidosis is characterised by the accumulation of poorly soluble fibrous proteins in the extracellular space of various bodily organs. Light chain amyloidosis (AL) is recognised as the most common form of systemic amyloidosis. Light chains are deposited in the majority of bodily organs, and accumulation of them in the liver produces hepatomegaly. We report a case of AL-systemic amyloidosis with liver involvement in a 71-year-old woman. Hepatomegaly, weight loss and general malaise were the first manifestations of the disease. Liver biopsy found amyloid deposits along the sinusoids as well as in the space of Disse, inside the vascular wall and in connective tissue of the portal tracts, which showed a positive reaction in Congo Red stain. Further diagnosis showed the presence of systemic amyloidosis. The patient was put on cyclophosphamide and steroid therapy.
    Przegląd Gastroenterologiczny 03/2014; 9(1):57-61. DOI:10.5114/pg.2014.40853 · 0.38 Impact Factor
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    • "UniqueclinicalchallengeswithALamyloidosis patientsthatwarrantspecialmentionrelateto themanagementofnutrition,macroglossia, orthostatichypotension,volumestatusandcardiacarrhythmias .Pre-transplantassessmentof gastrointestinalfunctionandmucosalintegrity isessential.Wehavefoundthatappropriate assessmentincludesadetailedreviewofgastrointestinalsignsandsymptoms ,serialstool examsforoccultbloodloss,endoscopicstudies todefinepathologyifindicated,andacomplete assessmentofcoagulationstatus.Patientswith poornutritionbecauseofgastrointestinaldysfunctionanddysmotility ,anorexia,ordysgeusia havegenerallyrequiredoralorparenteralnutri- tionsupplementsinthepre-andpost-transplant period.Nephroticsyndromeassociatedwith renalamyloidosishasbeenobservednotun- commonlytoleadtoseverehypoalbuminemia andperipheraledemaoranasarca.Inpatients withanasarcaandserumalbuminlevels<2.0 g/dL,wehavefoundthatalbumininfusionsto raisetheserumalbuminfollowedbyloopdiureticsareeffective .Hypoalbuminemia,autonomic insufficiency,hypoadrenalism,andcardiacdiseasecanallleadtoseverehypotension .Cardiac diseasehasbeenobservedtopredisposepa- tientstoatrialandventriculararrhythmiasas wellastosymptomsandsignsofrestrictive cardiomyopathy[31].Managementofsuchpa- tientsincoordinationwithanexperiencedcardiologisthasproventobecritical .Amiodaroneis oftenaneffectiveanti-arrhythmic,whilebeta blockers,calciumchannelblockers,anddigoxin haveoftenbeenpoorlytoleratedbythesepatients .DeficiencyoffactorX,alongwiththepoor endothelialandconnectivetissueintegrityfrom amyloiddeposition,isassociatedwithanin- creasedriskofcutaneousandmucosalbleeding ,includingpathognomonic"raccooneye" periorbitalecchymoses.PatientswithfactorX deficiencyareatparticularlyhighriskofbleed- ingcomplicationsduringperiodsofthrombocy- topenia[32].Hence,wehavefoundthatscreen- ingforfactorXdeficiencymustbedonepriorto treatment.Neitherfreshfrozenplasmanorcryo- precipitateareabundantsourcesoffactorX; significantbleedingduetofactorXdeficiencyis besttreatedwithfactorIXcomplexorrecombinantfactorVIIa .Additionalunusualproblems thatmaybeencounteredinthesepatientsin- cludedifficultieswithemergentendotracheal intubationinpatientswithmacroglossia,spon- taneoussplenic[33],esophagealandhepatic rupture[34],andhypercoagulabilityinassocia- tionwithnephroticsyndrome. "
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    ABSTRACT: AL amyloidosis is the most common form of systemic amyloidosis and is associated with an underlying plasma cell dyscrasia. The disease is often difficult to recognize because of its broad range of manifestations and, what are often, vague symptoms. Recent diagnostic and prognostic advances include the serum free light chain assay, cardiac magnetic resonance imaging, and serologic cardiac biomarkers. Treatment strategies that have evolved during the past decade are prolonging survival and preserving organ function in patients with this disease. This review outlines the role of high dose melphalan and stem cell transplantation in the treatment of AL amyloidosis.
    American Journal of Blood Research 01/2012; 2(1):9-17. DOI:10.1016/j.hoc.2014.08.013
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    ABSTRACT: High-dose melphalan chemotherapy and autologous peripheral blood stem cell transplantation has been shown to result in durable hematologic response and prolonged overall survival in systemic AL amyloidosis. In this retrospective study, we evaluated clinical and hematologic responses in 69 patients with predominant liver involvement who were treated with high-dose intravenous melphalan and autologous stem cell transplantation from 1998 to 2006. Nine patients (13%) died from treatment-related mortality, similar to patients without hepatic involvement. The overall survival was 81% at one year and 61% at five years, by Kaplan-Meier estimates. A hematologic complete response was achieved by 53% (31/58) of patients at one year. A hepatic response occurred in 57% (33/58) at one year after high-dose intravenous melphalan and autologous stem cell transplantation and 63% (19/30) at two years after high-dose intravenous melphalan and autologous stem cell transplantation. In conclusion, hepatic disease improves in almost 2/3 patients treated with high-dose intravenous melphalan and autologous stem cell transplantation who have a complete or partial hematologic response to treatment.
    Haematologica 06/2009; 94(7):1029-32. DOI:10.3324/haematol.2008.001925 · 5.81 Impact Factor
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