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)

Portal hypertension (PH) is a common clinical syndrome leading to severe complications. In the western world, about 90% of cases of PH are due to liver cirrhosis, and thanks to the availability of ultrasound elastography methods, this diagnosis is usually confirmed at bedside. We report a case of a patient presenting with PH and ascites initially suspected of suffering from liver cirrhosis. The finding of large hepatomegaly and a massive increase in liver stiffness prompted us to perform a liver biopsy. This revealed no fibrosis, but diffuse primary amyloidosis (AL amyloidosis). We discuss the diagnostic and treatment of this case, with emphasis on non-invasive imaging methods available for diagnosis and follow up.
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PMID:Portal Hypertension and a Stiff Liver. 3010 Oct 47

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

Hereditary systemic amyloidosis aside from transthyretin-related familial amyloid polyneuropathy is quite uncommon in Japan. We herein report a sporadic case of hereditary apolipoprotein AI (apoAI) amyloidosis. The patient was a 43-year-old Japanese man who exhibited marked hepatomegaly with spleno-testicular enlargement. While he was initially thought to have primary AL amyloidosis, a proteomics analysis revealed that the amyloid was composed of variant apoAI with an E34K variant. To date, only one patient with apoAI amyloidosis has been reported in Japan. However, our study suggests that more patients may be present in Japan, and the majority may have been diagnosed with other types of amyloidosis due to its clinical similarity.
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PMID:Giant Hepatomegaly with Spleno-testicular Enlargement in a Patient with Apolipoprotein A-I Amyloidosis: An Uncommon Type of Amyloidosis in Japan. 3299 21


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