'Fragile' liver and massive hepatic haemorrhage due to hereditary amyloidosis.

Harrison, Rebecca; Hawkins, P. N.; Roche, William R.; Macmahon, R. F. T.; Hübscher, Stefan G.; Buckels, J. A. C.

doi:10.1136/gut.38.1.151

Cited by 74 publications

(38 citation statements)

References 5 publications

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“…Besides TTR amyloidosis, other hereditary forms of amyloidosis have successfully been treated with liver or combined liver and kidney transplantation, i.e., lysozyme and fibrinogen amyloidosis. [39][40][41] Prognostic factors for patients undergoing liver transplantation for liver diseases are well known, but for patients with FAP, symptoms of the disease will still be present after transplantation and mortality, morbidity, and long-term prognosis depend on the patient's status before the procedure.…”

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confidence: 99%

Liver transplantation for hereditary transthyretin amyloidosis

et al. 2000

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confidence: 99%

Liver transplantation for hereditary transthyretin amyloidosis

et al. 2000

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“…As the diagnosis of amyloid was only established after liver rupture in all three of these cases, it may be that the prevalence suggested here is falsely high. Patient 5's explanted liver was noted to be fragile and friable with loss of the reticulin framework [21] and that of Patient 4 was 3 kg, which is approximately twice the weight of a normal liver [22]. Although the extent of amyloid infiltration may contribute to risk of haemorrhage, it is notable that liver rupture in AL amyloidosis, which is also associated with massive hepatomegaly, is exceptionally rare.…”

Section: Discussionmentioning

confidence: 99%

Hereditary lysozyme amyloidosis – phenotypic heterogeneity and the role of solid organ transplantation

Sattianayagam

Gibbs

Rowczenio

et al. 2011

Journal of Internal Medicine

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Abstract. Sattianayagam PT, Gibbs SDJ, Rowczenio D, Pinney JH, Wechalekar AD, Gilbertson JA, Hawkins PN, Lachmann HJ, Gillmore JD (University College London Medical School, London, UK). Hereditary lysozyme amyloidosis – phenotypic heterogeneity and the role of solid organ transplantation. J Intern Med 2012; 272: 36–44.Objectives. Lysozyme amyloidosis (ALys) is a form of hereditary systemic non‐neuropathic amyloidosis, which is inherited in an autosomal dominant fashion. Lysozyme, which is the amyloidogenic precursor protein in ALys, is a ubiquitous bacteriolytic enzyme synthesized by hepatocytes, polymorphs and macrophages. The aim of this study is to describe the phenotype and outcome of patients with ALys including the role of solid organ transplantation.Design. Retrospective evaluation of patients with ALys.Setting. UK National Amyloidosis Centre.Patients. All 16 patients with ALys followed at the centre.Results. A family history of amyloidosis was present in every affected individual. Although the phenotype was broadly similar amongst those from the same kindred, there were marked phenotypic differences between kindreds who possessed the same amyloidogenic mutation. Symptomatic gastrointestinal (GI) amyloid was prevalent, and macroscopically visible amyloidotic lesions were present in nine of 10 patients who underwent GI endoscopy. All symptomatic ALys individuals had hepatic amyloid. Four patients received orthotopic liver transplants (OLT), three for spontaneous hepatic rupture and one case, who had extensive hepatic amyloid and a strong family history of hepatic rupture, pre‐emptively. All of the liver grafts were functioning at censor 1.7, 5.8, 9.0 and 11.0 years after OLT. Five patients had progressive amyloidotic renal dysfunction culminating in end‐stage renal failure, three of whom underwent renal transplantation (RTx). There was no evidence of renal allograft dysfunction at censor 6.6, 1.8 and 0.8 years after RTx.Conclusions. Lysozyme amyloidosis is a disease of the GI tract, liver and kidneys, which has a slow natural history. There was a clear family history in all cases within this cohort, demonstrating a high clinical penetrance in the presence of an amyloidogenic lysozyme mutation. There is currently no amyloid‐specific therapy for the condition which is managed symptomatically. OLT and RTx appear to be successful treatments for patients with liver rupture or end‐stage renal disease, respectively, with excellent outcomes in terms of medium‐term graft function and patient survival.

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“…The prognosis is very poor in cases of cholestatic acute liver failure in hepatic amyloidosis [5,33,491, especially when it is associated with rupture of the spleen and/or the liver [3, 371. In these cases, liver transplantation may be the only life-saving treatment, and it has been successfully performed in cases of spontaneous, massive hepatic hemorrhage [16]. However, the authors report a lack of correlation of the prognosis with the size of the liver, the results of laboratory tests, or the degree of amyloid deposition [8].…”

Section: Discussionmentioning

confidence: 99%

Liver transplantation as rescue treatment in a patient with primary AL kappa amyloidosis

Nowak¹,

Westermark²,

Wernerson³

et al. 2000

Transplant International

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Although involvement of the liver is common in systemic amyloidosis, clinical manifestations of hepatic dysfunction and liver biochemical abnormalities are often absent or only mild. Here we report on a patient with primary amyloidosis and rapid development of liver failure, who was successfully treated by liver transplantation. The patient is a 61-year-old Swedish man who was admitted to the local hospital for spontaneous rupture of the spleen. Before admission, he had suffered from diffuse upper abdominal discomfort, diminished appetite, and had lost 15 kg in 6 months.Shortly after splenectomy, he developed cholestatic liver failure with moderate hepatomegaly, jaundice, ascites and hyponatremia. Over a period of 3 weeks his liver failure progressed, renal function deteriorated rapidly, and he developed encephalopathy. Liver transplantation was performed on the 35th day after splenic rupture. Histological examination revealed extensive deposits of arnyloid in the spleen and liver. N-terminal amino acid sequence analysis of the amyloid protein, purified from the patient's native liver, revealed an AL protein of kappa I-type origin. The postoperative course was uncomplicated, apart from one episode of sepsis and one course of treatment for acute rejection. He was discharged from hospital with normal liver function and good kidney function. One year after surgery, he was in good condition, with normal liver function. However, a liver biopsy taken at the same time showed de novo amyloid deposits in the grafted liver. We conclude that liver transplantation may be indicated as a life-saving procedure in rapidly progressing hepatic amyloidosis with cholestatic jaundice, although the underlying disease has not changed.

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'Fragile' liver and massive hepatic haemorrhage due to hereditary amyloidosis.

Cited by 74 publications

References 5 publications

Liver transplantation for hereditary transthyretin amyloidosis

Liver transplantation for hereditary transthyretin amyloidosis

Hereditary lysozyme amyloidosis – phenotypic heterogeneity and the role of solid organ transplantation

Liver transplantation as rescue treatment in a patient with primary AL kappa amyloidosis

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