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)

The clinical and pathological features of four liver biopsies and 12 autopsies from 1981-1990 with hepatic amyloidosis were reviewed. All of the patients had a history of both intravenous and subcutaneous cocaine and heroin use with chronic suppurative skin ulcers. Five patients were proven to have the acquired immunodeficiency syndrome at autopsy. Systemic amyloidosis was diagnosed in only five out of the 16 patients prior to death. Hepatomegaly was present in 12 patients. The amyloid protein was AA in 14 and AL in one case. Definitive characterization of the amyloid substance was not possible in one case. There was no evidence of multiple myeloma or a plasma cell dyscrasia in the one patient with AL amyloid. The amyloid distribution in the liver was both parenchymal and vascular in 12 cases. Cholestasis, which appeared to occur preterminally, was the only histological finding that correlated with the patient's clinical condition. The histological pattern of amyloid in the liver could not predict the type of amyloid protein that was identified. Amyloidosis should be considered in the differential diagnosis of unexplained hepatomegaly in the acquired immunodeficiency syndrome with chronic suppurative infections.
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PMID:Hepatic amyloidosis in intravenous drug abusers and AIDS patients. 830 Oct 46

The morbidity and lethality of AL amyloidosis is caused by the deposition of lg light chains as fibrillar amyloid protein in vital organs, disrupting their function, and not by the generally low burden of clonal plasma cells that produce the paraproteins. Survival of patients with AL amyloidosis is no more than 1 to 2 years from the time of diagnosis with current management approaches. Clearly, more effective therapies are needed for this rapidly lethal disease. Five patients were treated with dose-intensive melphalan and blood stem cell support and followed for a period of 1 year. Patients were diagnosed with AL amyloidosis by tissue biopsy and categorized by performance status and organ involvement. Their plasma cell dyscrasias were evaluated with immunofixation electrophoresis of serum and urine specimens, quantitative serum lgs, and immunohistochemical staining of bone marrow biopsy specimens. After treatment with dose-intensive intravenous melphalan followed by infusion of autologous growth-factor-mobilized blood stem cells, clinical evaluations and plasma cell studies were repeated at 3 and 12 months. Three men and 2 women aged 38 to 53 years were treated. Median performance status (SWOG) was 2 (1 to 3), and clinical presentations included nephrotic syndrome (n = 1), symptomatic cardiomyopathy (n = 1), gastrointestinal involvement with polyneuropathy (n = 2), and hepatomegaly (n = 1). With a median follow-up of 13 months (12 to 17 months), all five patients are well and have shown stable or improved performance status and clinical remission of organ-related dysfunction, including a 50% reduction in daily proteinuria with no change in creatinine, reversal of symptoms of cardiomyopathy and reductions of posterior wall and septal thickening, reversal of polyneuropathy and gastric atony, and resolution of hepatomegaly by computed tomographic scan. In 3 of the 5 patients (60%) at 12 months after treatment, plasma cell dyscrasias could not be detected. Dose-intensive chemotherapy with intravenous melphalan and growth-factor-mobilized blood stem cell support is feasible therapy for patients with AL amyloidosis, even when there is clinical evidence of cardiac involvement. At least some patients with AL amyloidosis achieve complete remission of their plasma cell dyscrasia, improvement in performance status, and clinical remission of organ-specific disease after this form of treatment.
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PMID:Dose-intensive melphalan with blood stem cell support for the treatment of AL amyloidosis: one-year follow-up in five patients. 883 79

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 amyloid 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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PMID:Liver transplantation as rescue treatment in a patient with primary AL kappa amyloidosis. 1083 44

Hepatic amyloidosis complicated with Castleman's disease is quite rare. A 48-year-old woman was referred to our hospital with general fatigue, low-grade fever, anemia, thrombocythemia, and liver dysfunction. Physical examination revealed anemia and hepatomegaly and abdominal computed tomography showed marked hepatomegaly and right upper abdominal masses. Technetium-99m pyrophosphate (99mTc-PYP) scintigraphy revealed the diffuse abnormal uptake of the enlarged liver, suggesting amyloid deposition. Liver biopsy showed destruction of the liver structure and the massive deposition of AA type amyloid protein. Surgical resection was performed on the abdominal masses. Histological examination of the masses showed Castleman's disease (plasma cell type). After resection, her fever resolved and the liver size gradually decreased to within the normal range. This case shows that surgical resection of the main lesion is effective for hepatomegaly due to AA type amyloidosis associated with Castleman's disease.
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PMID:Marked hepatomegaly due to AA type amyloidosis in a case with Castleman's disease. 1686 6

A 3-year-old, spayed female, Domestic Shorthair cat presented with anorexia, lethargy, vomiting, probable hemoabdomen, and multiple masses on the right lateral liver lobe. Clinicopathologic and imaging abnormalities included anemia, azotemia, icterus, and hepatomegaly with hypoechoic masses. On cytologic evaluation of a fine-needle aspiration of a liver mass there was abundant extracellular pink- to purple-colored material between hepatocytes. The amorphous material was stained with direct fast scarlet (DFS), and green birefringent areas were observed under polarized light, confirming the presence of amyloid. A unique finding on the cytologic smear were macrophages containing amorphous and fibrillar amyloid-like protein. Histopathologic examination using H&E and Congo red staining confirmed amyloid deposits within the space of Disse, along the sinusoids, portal tracts, blood vessel walls, and within the cytoplasm of macrophages. Immunohistochemical staining with anti-AA amyloid antibodies further confirmed the presence of AA amyloid. To the author's knowledge, this is the first report of the cytologic finding of AA amyloid protein within macrophages and DFS stain detection of amyloid on a cytologic smear.
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PMID:Hepatic AA amyloidosis in a cat: cytologic and histologic identification of AA amyloid in macrophages. 2851 99