Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0019209 (hepatomegaly)
 5,798 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Amyloidosis is not a single disease, but a series of diseases in which there is extracellular deposition of a protein in an abnormal fibrillar form. We report a 48-year old woman with subicteric coloration of scleras and hepatomegaly. Functional liver tests evidenced a high level of alkaline phosphatase and serum gamma-glutamyl transpeptidase with mild increase of bilirubin level. Color Doppler ultra-sonography, showed a hyperkinetic portal hypertension. The liver biopsy found amyloid in sinusoids subendothelially. Immunohistochemical staining for anti lambda light chain immunoglobulin was positive. Bone marrow morphology and immunohistochemistry confirmed lymphoplasmocytic lymphoma with amyloidosis.
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PMID:Primary amyloidosis presenting with cholestasis and hyperkinetic portal hypertension. 1759 72

Light-chain (AL) amyloidosis is the most common form of systemic amyloidosis and is associated with an underlying plasma cell dyscrasia. The disease often is difficult to recognize because of its broad range of manifestations and what often are vague symptoms. The clinical syndromes at presentation include nephrotic-range proteinuria with or without renal dysfunction, hepatomegaly, congestive heart failure, and autonomic or sensory neuropathy. 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 approaches to diagnosis, assessment of disease severity, and treatment of AL amyloidosis.
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PMID:Light-chain (AL) amyloidosis: diagnosis and treatment. 1769 66

A 27-year-old male patient presented with respiratory symptoms, bilateral enlargement of the cervical lymph nodes and enlarged liver. In the imaging studies, bilateral enlargement of the hilar nodes was observed, together with pulmonary infiltrate. The patient was submitted to lung and liver biopsies, which revealed noncaseating granulomas. The clinical, radiological and histopathological findings were consistent with sarcoidosis and lymph node amyloidosis. The combination of sarcoidosis and amyloidosis has rarely been reported.
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PMID:Mediastinal lymph node amyloidosis in a patient with sarcoidosis. 1772 43

Amyloidosis is characterized by extracellular deposition of abnormal protein. There are six types: primary, secondary, hemodialysis-related, hereditary, senile, and localized. Primary (AL) amyloidosis is associated with monoclonal light chains in serum and/or urine with 15% of patients having multiple myeloma. Secondary (AA) amyloidosis is associated with inflammatory, infectious, and neoplastic diseases. The presentation is protean, including macroglossia, a dilated and atonic esophagus, gastric polyps or enlarged folds, and luminal narrowing or ulceration of the colon. Amyloid deposition in the gastrointestinal (GI) tract is greatest in the small intestine. The symptoms include diarrhea, steatorrhea, or constipation. Pseudo-obstruction carries a particularly grave prognosis, often not responding to pro-motility agents. Hepatic involvement is common, but the clinical manifestations are usually mild with hepatomegaly and an elevated alkaline phosphatase level. Biopsies to diagnose amyloidosis can be taken from the fat, kidney, intestine, or bone marrow. The safety of liver biopsies is controversial. With Congo Red stain, amyloid appears red in normal light and apple-green in polarized light. Treatment for AL amyloidosis is chemotherapy and stem cell transplantation; treatment for AA amyloidosis is control of the underlying disease. Amyloidosis should be considered in patients with proteinuria, cardiomyopathy, hepatomegaly (with mildly abnormal liver tests), peripheral and autonomic neuropathy, weight loss, and GI symptoms.
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PMID:Gastrointestinal manifestations of amyloidosis. 1972 11

Amyloidoses are a heterogeneous group of multisystem disorders, which are characterized by an extracellular deposition of amyloid fibrils. Typically affected are the heart, liver, kidneys, and nervous system. More than half of the patients die due to cardiac involvement. Clinical signs of cardiac amyloidosis are edema of the lower limbs, hepatomegaly, ascites and elevated jugular vein pressure, frequently in combination with dyspnea. There can also be chest pain, probably due to microvessel disease. Dysfunction of the autonomous nervous system or arrhythmias may cause low blood pressure, dizziness, or recurrent syncope. The AL amyloidosis caused by the deposition of immunoglobulin light chains is the most common form. It can be performed by monoclonal gammopathy. The desirable treatment therapy consists of high-dose melphalan therapy twice followed by autologous stem cell transplantation. Due to the high peritransplantation mortality, selection of appropriate patients is mandatory. The ATTR amyloidosis is an autosomal dominant disorder caused by the amyloidogenic form of transthyretin, a plasmaprotein that is synthesized in the liver. Therefore, liver transplantation is the only curative therapy. The symptomatic treatment of cardiac amyloidosis is based on the current guidelines for chronic heart failure according to the patient's New York Heart Association (NYHA) state. Further types of amyloidosis with possible cardiac involvement comprise the senile systemic amyloidosis caused by the wild-type transthyretin, secondary amyloidosis after chronic systemic inflammation, and the beta(2)-microglobulin amyloidosis after long-term dialysis treatment.
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PMID:[Cardiac amyloidosis]. 1834 65

Systemic AL-amyloidosis is a disorder brought about by the over-production and deposition of fragments of light immunoglobulin chains in tissues, the consequence of which is their functional impairment. The most often affected are the kidneys, the heart, the gastro-intestinal tract and the nervous system. We describe the case of a 57-year-old patient in whom a rare disorder of the striated muscle (am yloid myopathy) was present, as the first clinical indication of systemic AL-amyloidosis. The main symptoms were muscle weakness and an increase in laboratory signs of muscle lesion. The patient was monitored for several years and treated with a diagnosis of primary idiopathic polymyositis (the likely diagnosis according to the diagnostic criteria of Bohan and Peter). Only after some years did hepatomegaly appear with elevated liver transaminases and a diagnosis of systemic AL-amyloidosis was established on the basis of a liver biopsy. By additional staining of striated muscle preparations with a dye for amyloid (in accordance with Maldyk) amyloid myopathy was confirmed. In addition to muscle affection, mixed hyperlipoproteinemia was present from the beginning. This was probably the first indication ofamyloidosis. The case description points out the justified inclusion of systemic AL-amyloidosis in differential diagnosis of muscle weakness and signs of muscle lesion. Amyloidosis must be considered if in addition to myopathy there is also present a problem with any organ which can typically be affected by amyloidosis.
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PMID:[Myopathy and mixed hyperlipoproteinemia as the first symptom of systemic AL-amyloidosis]. 1900 71

An adult swan goose (Anser cygnoides) kept in a zoological garden had gross hepatic enlargement with extensive ill-defined white foci. Microscopically, the hepatic lesions were composed of a mixture of adipocytes and myeloid cells. The goose was also affected with systemic amyloidosis and there were areas of osseous metaplasia associated with deposition of amyloid within the liver.
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PMID:Hepatic myelolipoma and amyloidosis with osseous metaplasia in a swan goose (Anser cygnoides). 1959 8

The liver is a common site of amyloid deposition in primary systemic amyloidosis. We report the case of a 52-year-old white woman complaining of hepatomegaly, high levels of alkaline phosphatase and serum gamma-glutamyl transferase. Other laboratory tests showed proteinuria with light-chain type lambda. Color Doppler ultrasonography showed an enlarged bright liver with hepatopetal portal blood flow. Fine-needle aspiration biopsy of abdominal fat, with Congo red stain, was positive for amyloid. No liver biopsy was performed, but transient elastography showed high liver stiffness values (75 kPa), suggestive of amyloid infiltration, as other causes of elevation had been ruled out by clinical, laboratory and radiological findings. Bone marrow morphology and immunoistochemistry confirmed low-grade plasmacytoma with amyloidosis.
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PMID:Liver AL amyloidosis as a possible cause of high liver stiffness values. 2104 65

A 59-year-old man was referred to our hospital due to nephrotic syndrome with IgM paraproteinemia. Physical examination demonstrated marked hepatomegaly and anasarca. Serum M-protein was 0.94 g/dl and urinary analysis detected the presence of Bence Jones protein. Bone marrow plasma cell count was 11.2%. Histological examination demonstrated AL-type amyloid deposition in the liver, kidneys, bone marrow, stomach and rectum. These findings led to a diagnosis of IgM multiple myeloma with systemic amyloidosis. Although there was no apparent response to 2 courses of vincristine, doxorubicin and dexamethasone (VAD) regimen, subsequent treatment with bortezomib in combination with dexamethasone resulted in a rapid reduction in M protein to 0.49 g/dl, approximately half the pre-treatment level.
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PMID:[IgM-lambda multiple myeloma presenting with systemic amyloidosis]. 2006 79

A 65-year-old male presented with hemorrhagic bullous skin lesions with purpura and ecchymoses. There was increased skin fragility with a strongly positive Nikolsky sign. Histopathology of the skin revealed large amounts of amyloid deposits in the dermis with a positive Congo Red staining around the dermal vessels. Examination and tests in this patient also revealed anemia, hepatomegaly, infiltrative cardiomyopathy, polyneuropathy and immunoglobulin l deposition, favoring a diagnosis of primary amyloidosis (AL type). The present case is reported in view of the rarity of the bullous variant of primary systemic amyloidosis as well as presence of mucosal lesions and a positive Nikolsky sign.
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PMID:Systemic amyloidosis presenting as mucocutaneous bullous lesions. 2013 56


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