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Query: UMLS:C0019209 (hepatomegaly)
 5,798 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Cardiac amyloidosis may occur in any type of systemic amyloidosis. The clinical picture is often characterized by restrictive cardiomyopathy. We report the case of a 41-year-old female patient admitted to the Department of Cardiology with clinical signs of right heart failure: congested jugular veins, hepatomegaly, peripheral edema, ascites associated with atrial fibrillation, low values of arterial blood pressure and oliguria. Echocardiographic findings were helpful for the diagnosis of cardiac amyloidosis: enlarged atrial cavities, normal size ventricles, thickened ventricular septum and posterior left ventricle wall with normal left ventricular ejection fraction, mitral and tricuspid regurgitation. Two-dimensional echocardiography revealed additional features: thickened papillary muscles and a specific "granular sparkling" appearance of the thickened cardiac walls - probably due to the amyloid deposit. Gingival biopsy showing amorphous eosinophilic material located in the vessel walls and the specific dichroism and "apple-green" birefringence under polarized light on Congo red stained slides completed the diagnosis of systemic amyloidosis. We recommend cardiologists to take into account a possible cardiac amyloidosis in a patient with unexplained refractory heart failure and a typical pattern of restrictive cardiomyopathy revealed by echocardiographic examination. We also emphasize the fact that the complete diagnosis cannot be set without a biopsy that should reveal the presence of amyloid. Although endomyocardial biopsy, completed with histochemical and immunohistochemical stains, is a valuable diagnostic method, in cases with advanced cardiac failure, the best site for this biopsy may be the gingiva.
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PMID:Amyloidosis - a rare cause of refractory heart failure in a young female. 2852 19

Systemic amyloidosis is a rare disease involving multiple organs. It is difficult to establish diagnosis as the symptoms is diverse and non-specific. And without specific therapy the prognosis is very poor. We analyzed detailed clinical and laboratorial data of a 53-year-old male patient. The characteristic features included refractory pleural effusion, extraordinary hepatomegaly and cardiac failure. The illness lasted 9 months and therapy period spanned 4 months. Fine needle biopsy of liver, lung, heart, pancreas and kidney was performed. Immunohistochemistry, immunofluorescence, Congo staining and hematoxylin and eosin staining were performed. All specimens were stained pink with haematoxylin and eosin staining. Amorphous deposits of eosinophilic material were visible within the Congo red dye stained liver tissue whereas under cross-polarized light pathognomonic apple-green birefringence of amyloid deposits was visible. At last systemic AL amyloidosis diagnosis was confirmed. The report showed an unusual AL amyloidosis case in detail which would be helpful for physician in clinical work.
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PMID:Clinical characteristics and diagnosis of a rare case of systemic AL amyloidosis: a descriptive study. 2984 40

Amyloid light chain (AL) amyloidosis is a disease of misfolded, fibrous proteins, either kappa or lambda subtype, that can be deposited into one or more organs, caused by a proliferation of plasma cells. The liver is uncommonly the main organ system affected and rarely the only organ affected by amyloid deposition. With hepatic involvement, the most common presenting findings are hepatomegaly and elevation of serum alkaline phosphatase. We report a case of a 50-year-old male who presented to our gastroenterology clinic with marked hepatomegaly secondary to hepatic amyloidosis, in concert with bone marrow involvement and nephrotic syndrome. Biopsies in conjunction with Congo red staining demonstrated 95% replacement of hepatic structure and 80% replacement of bone marrow with amyloid deposition. Despite these findings, liver chemistries, renal function, and blood count were normal. Our case presents not only the rare finding of primary hepatic amyloidosis but also an atypical presentation of this disorder. Although rare, AL amyloidosis should be in a differential diagnosis of any patient who presents with unexplained hepatomegaly, nephrotic-range proteinuria, heart failure with preserved ejection fraction, fatigue, weight loss or a history of monoclonal gammopathy of undetermined significance.
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PMID:Massive Hepatomegaly Secondary to Amyloidosis with Normal Liver Chemistries. 3251 38


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