• Humans
• Magnetic Resonance Imaging/methods
• Contrast Media/pharmacokinetics
• Liver Diseases/diagnostic imaging
• Liver/diagnostic imaging
• Liver Neoplasms/diagnostic imaging

• Humans
• Female
• Middle Aged
• Male
• Hepatomegaly/complications
• Hepatomegaly/diagnosis
• Hepatomegaly/pathology
• Cross-Sectional Studies
• Retrospective Studies
• Amyloidosis/complications
• Liver Failure, Acute

Amyloidosis, a heterogenous group of disorders, is characterized by the extracellular deposition of autologous, insoluble, fibrillar misfolded proteins. These extracellular proteins deposit in tissues aggregated in ß-pleated sheets arranged in an antiparallel fashion and cause distortion to the tissue architecture and function. In the current literature, about 60 heterogeneous amyloidogenic proteins have been identified, out of which 27 have been associated with human disease. Classified as a rare disease, amyloidosis is known to have a wide range of possible etiologies and clinical manifestations. The exact incidence and prevalence of the disease is currently unknown. In both systemic and localized amyloidosis, there is infiltration of the abnormal proteins in the layers of the gastrointestinal (GI) tract or the liver parenchyma. The gold standard test for establishing a diagnosis is tissue biopsy followed by Congo Red staining and apple-green birefringence of the Congo Red-stained deposits under polarized light. However, not all patients may have a positive tissue confirmation of the disease. In these cases additional workup and referral to a gastroenterologist may be warranted. Along with symptomatic management, the treatment for GI amyloidosis consists of observation or localized surgical excision in patients with localized disease, and treatment of the underlying pathology in cases of systemic amyloidosis. In this review of the literature, we describe the subtypes of amyloidosis, with a primary focus on the epidemiology, pathogenesis, clinical features, diagnosis and treatment strategies available for GI amyloidosis.

• Gastroenterology
• Hepatology
• Amyloidosis
• Dysmotility
• Endoscopy
• Therapeutics

Systemic amyloidosis in which multiple systems can be involved has become a common clinical disease. When the liver is affected, symptoms such as abdominal distension, fatigue, edema, liver, and jaundice could appear. To date, hepatic amyloidosis combined with hepatic venular occlusive disease and Budd-Chiari syndrome has not been reported.

A 54-year-old female patient was admitted to the Beijing Shijitan Hospital with hepatic amyloidosis leading to hepatic venular occlusion and Budd-Chiari syndrome in 2018. The patient underwent surgery 1 mo previously for liver rupture and hemorrhage after Budd-Chiari syndrome was diagnosed. She was diagnosed with hepatic venular occlusion, liver amyloidosis, and Budd-Chiari syndrome (i.e. extensive hepatic vein occlusion). Transjugular intrahepatic portosystem shunt was performed. After the treatment, the clinical symptoms improved markedly with increase in urine volume.

Hepatic amyloidosis with hepatic venous occlusion and Budd-Chiari syndrome is relatively rare clinically, and transjugular intrahepatic portosystem shunt is an effective treatment for this disease.

• Hepatic venular occlusion
• Liver amyloidosis
• Budd-Chiari syndrome
• Portal hypertension
• Case report

• hepatic amyloidosis
• liver span
• liver stiffness
• magnetic resonance elastography
• serum alkaline phosphatase

• R37 EB001981 NIBIB NIH HHS

Amyloidosis is a group of diseases which are caused by the extracellular deposition of amyloid fibrils, which have a beta lamella structure and are positive for Congo red staining. The diagnosis of amyloidosis still relies on histology. Brick red coloration in Congo red staining of biopsy tissue and apple green double refraction under a polarizing microscope are diagnostic features of amyloidosis. Patients with systemic amyloidosis often exhibit gastrointestinal symptoms, which have complicated patterns of manifestations, including giant tongue, dysphagia, constipation, diarrhea, abdominal pain, bleeding, malabsorption, and different levels of gastrointestinal bleeding. Clinical symptoms of amyloidosis are atypical and easy to be misdiagnosed, which often causes delayed treatment. In this review, we will briefly introduce the clinical and endoscopic features of gastrointestinal manifestations of amyloidosis as well as its treatment.

• Gastrointestinal amyloidosis
• Amyloidosis
• Light chain primary amyloidosis
• Secondary amyloidosis

• ascites
• chronic liver disease
• liver stiffness
• magnetic resonance elastography

Gastrointestinal amyloidosis (GIA), a protein deposition disorder, represents a complex common pathway that encompasses multiple etiologies and presentations. It represents a significant diagnostic and treatment challenge. The disease results from the deposition of insoluble extracellular protein fragments that have been rendered resistant to digestion. GIA can be acquired or genetic, and most commonly results from chronic inflammatory disorders (AA amyloidosis), hematologic malignancy (AL amyloidosis), and end-stage renal disease (Beta-2 amyloidosis). The deposition of these abnormal proteins interferes with gastrointestinal tract (GI) organ structure and function, most notably in the liver and small bowel. Presentation from GI involvement includes cirrhotic sequelae, abdominal pain, malabsorption, and GI bleeding. Diagnosis hinges on pathologic examination of affected tissue, with classic green birefringence under polarized light. Abdominal fat pad and rectal mucosal biopsy have been described as sites of higher sensitivity for diagnosis. Serum amyloid P scintigraphy is near 90% sensitive for diagnosis of AA amyloidosis. Patients should be considered for further evaluation to rule out additional organ involvement, notably cardiac and renal. Treatment hinges on an adequate suppression of the predisposing inflammatory disorder, or malignancy, followed by supportive therapy. Prognosis varies depending on the etiology of the disease, with the AL subtype showing worse outcomes, as well as those with hepatic involvement. 

• amyloidosis
• gastrointestinal amyloidosis

• echo planar imaging (EPI)
• gradient-echo imaging (GRE)
• liver fibrosis staging
• magnetic resonance elastography (MRE)
• three-dimensional postprocessing