Gene/Protein Disease Symptom Drug Enzyme Compound
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Query: UMLS:C0020473 (hyperlipidemia)
 15,891 document(s) hit in 31,850,051 MEDLINE articles (0.00 seconds)

Of three siblings affected with cholesterol ester storage disease, two died at ages 7 and 9 years, respectively, with hepatic scarring and portal hypertension. Lipid storage was documented in both patients, as were esophageal varices and aortic plaques in the older child. The third affected sibling, followed to 13 years of age, has hepatomegaly, hyperlipidemia, short stature, adrenal calcification, and acid lipase deficiency. Leukocyte extracts demonstrated deficiency of acid lipase in this patient. This autosomal recessive condition may be allelic with Wolman disease with a more malignant course in this family than in most reported cases.
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PMID:Cholesterol ester storage disease: clinical, biochemical, and pathological studies. 85 64

We conducted a retrospective study of patients younger than 20 years of age who had a diagnosis of chronic pancreatitis and underwent assessment at the Mayo Clinic between 1960 and 1990. Those with a known etiologic factor for the pancreatitis (such as a virus, trauma, alcohol, or hyperlipidemia) were excluded from the study. We compared the clinical course of the 42 patients who had hereditary pancreatitis (HP)--defined as at least two family members affected by the condition--with that of the 28 patients who had idiopathic pancreatitis (IP). The mean age at initial assessment was 7 years for those with HP and 12 years for those with IP. All patients in both groups had abdominal pain. Vomiting was more frequent in patients with HP than in those with IP; otherwise the initial symptoms were similar in both groups. Patients with HP, however, had more complications, including pseudocysts (seven patients), steatorrhea (four), ascites (three), portal hypertension (two), and diabetes (one), than did patients with IP (one each had diabetes, steatorrhea, and a pseudocyst). Complications or pain necessitated surgical intervention in 23 of 42 patients with HP versus 4 of 28 patients with IP. Overall in comparison with IP, HP seems to be a more severe variant of chronic pancreatitis, inasmuch as it is associated with more frequent complications and need for surgical intervention.
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PMID:Long-term follow-up of young patients with chronic hereditary or idiopathic pancreatitis. 847 8

Sympathetic nervous system activation has been documented in several cardiovascular disorders. In some, characterized by cardiac failure and portal hypertension accompanying hepatic cirrhosis, the sympathetic nervous stimulation is reflex and, to some extent, compensatory but has adverse consequences. For example, in cardiac failure, the sympathetic nerves of the heart are preferentially stimulated, providing adrenergic support to the failing myocardium but at the probable cost of arrhythmogenesis and progressive myocardial deterioration. The sympathetic activation present in patients with essential hypertension, which involves the sympathetic outflows to skeletal muscle, heart, and kidneys and is seen particularly in younger patients, differs from these examples in that the sympathetic nervous stimulation is apparently not reflex and the primary cause is unknown. There is, however, evidence that activation of forebrain pressor noradrenergic nuclei may be of importance as an underlying central nervous system mechanism. This sympathetic nervous stimulation in patients with essential hypertension, in addition to initiating the blood pressure elevation, may also contribute to the commonly associated metabolic abnormalities of insulin resistance and hyperlipidemia, with neural vasoconstriction having metabolic consequences, impairing glucose delivery and causing insulin resistance in muscle, and retarding postprandial clearing of lipids in liver. Trophic effects of sympathetic activation on cardiovascular growth are claimed but have yet to be demonstrated conclusively in humans.
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PMID:Sympathetic nervous system: contribution to human hypertension and related cardiovascular diseases. 864 1

The objective of this study was to evaluate the association of intrahepatic cholestasis, pulmonary stenosis, and hyperlipemia with osseous and renal abnormalities in Alagille's syndrome. A total of 37 patients (25 males and 12 females) with ages ranging between 8 months and 27 years were included. Clinical records as well as radiological and ultrasonographic studies were reviewed. Chronic cholestasis was observed in all patients. Thirteen had favorable clinical outcome and normal hepatic sonograms. Clinical and sonographic evidence of portal hypertension was found in 13 patients and of cirrhosis in 8 patients. The remaining 3 patients required hepatic transplantation due to severe cholestasis. Hyperlipemia correlated with hepatic malfunction. Pulmonary stenosis and renal hypoplasia were the most frequently associated abnormalities. All patients showed a peculiar facies. Abnormal "butterfly" vertebrae were present in 18 patients and ulnar or phalangeal shortening in 11 patients. Ultrasonography allowed hepatobiliary disease assessment and helped to establish indications for hepatic transplantation. Renal and osseous abnormalities were not specific but in the appropriate clinical setting reinforced the diagnosis.
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PMID:Syndrome of Alagille: radiological and sonographic findings. A review of 37 cases. 900 Apr 11

Nonalcoholic steatohepatitis (NASH) is a liver disease that, until recently, has been underrecognized as a common cause of elevated liver enzymes. This distinct clinical entity is characterized by liver biopsy findings similar to those seen in alcoholic hepatitis but in the absence of alcohol consumption sufficient to cause such changes. Patients with NASH are often middle-aged and obese, with coexisting diabetes or hyperlipidemia, but NASH also occurs in younger lean, otherwise healthy individuals and even in children. Although NASH is generally a benign disorder, it may be progressive, leading to cirrhosis and complications of portal hypertension. Liver biopsy remains the gold standard for diagnosis. Therapy for NASH remains poorly defined, although weight reduction and ursodeoxycholic acid may have a beneficial effect.
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PMID:Nonalcoholic steatohepatitis. 1090 90

We retrospectively studied the records of 6 Malaysian children who were diagnosed with Alagille Syndrome (AGS) according to this criteria from January 1999 to January 2001, at the Institute of Paediatrics, Kuala Lumpur Hospital. Four patients (66%) had a positive family history. Thirteen individuals (6 patients and 7 relatives) were diagnosed with AGS in these 5 families. Only 6/13 (46%) of them presented with liver involvement. All 6 patients presented with typical facies and cholestasis (100%). Three (50%) presented with portal hypertension (PHT) with synthetic liver dysfunction (1 died), 1/6 (17%) have PHT and normal synthetic liver function. Two have cleared their jaundice but have biochemical evidence of hepatitis and hepatomegaly, four have congenital heart disease 5/6 posterior embryotoxon, 2/6 butterfly vertebrae, 4/6 hyperlipidaemia and 4/6 failure to thrive. One patient has a Jagged-1 gene disruption at the translocation breakpoint locus 20p12.3 2n = 46,XX,t(12.20) (q22, p12.3). 5/6 (83%) are still alive. Two-thirds of our patients developed chronic liver disease by 3 years of age. Two-thirds of the index patients have a family history. Only 46% of individuals in these families have clinical evidence of liver involvement. Mortality depends on cardiac/renal disease, end-stage liver failure and intercurrent infection.
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PMID:Morbidity in Alagille syndrome in 6 Malaysian children. 1519 Jun 47

Orthotopic liver transplantation (OLT) represents a curative treatment option for end-stage liver disease (ESLD). Although epidemiology of ESLD has recently changed due to the rising prevalence of nonalcoholic fatty liver disease and the decreased burden of hepatitis C virus infections due to highly effective antiviral regimens, the management of portal hypertension (PHT) remains a clinical challenge in the pre- and post-OLT setting. The measurement of the hepatic venous pressure gradient represents the most reliable but invasive tool for assessment of the severity of PHT. Although novel liver ultrasound and magnetic resonance-based elastography methods have been developed, their value to screen for liver fibrosis and PHT in transplanted patients remains to be established. Nonselective beta-blockers represent the cornerstone of medical treatment of PHT, but more studies on their effects on clinical endpoints after OLT are needed. Statins are widely used to treat hyperlipidemia, which is a common condition after OLT. Although a growing body of evidence suggests that statins decrease portal pressure and PHT-related complications in ESLD, studies on potential benefits of statins after OLT are lacking. Finally, transjugular intrahepatic portosystemic shunts (TIPS) are effective in decreasing PHT and seem to decrease mortality on the OLT waiting list. Moreover, TIPS does not have an impact on liver function nor complicate the transplant surgical procedures. TIPS may also be used after OLT, but the evidence is limited. In conclusion, whereas the management of PHT in patients with ESLD is based on strong evidence, further data on the value of noninvasive monitoring tools as well as on medical and invasive treatment options in the post-OLT setting are needed to improve management strategies in patients with recurrent PHT after liver transplantation. Liver Transplantation 24 112-121 2018 AASLD.
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PMID:Management of portal hypertension before and after liver transplantation. 2875 25

Patients with primary biliary cholangitis (PBC) are at risk for various harmful consequences of chronic cholestasis. These include fat-soluble vitamin deficiency, even in the setting of macronutrient sufficiency, as well as metabolic bone disease, including osteoporosis with fractures. Hyperlipidemia is often present and less commonly associated with risk of cardiovascular event; however, the long-term effect of new emerging therapies for PBC remains to be determined. Patients with PBC also have infrequent but notable risk of portal hypertension despite early-stage disease. This review discusses the background, evaluation, and practical management of these complications of chronic cholestasis.
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PMID:Chronic Complications of Cholestasis: Evaluation and Management. 3025 51

Despite near universal use of ursodeoxycholic acid (UDCA) several patients with PBC still progress to liver transplant (LT) or death. Pruritus and fatigue are the most common symptoms. Liver transplantation for pruritus is highly effective but fatigue will not disappear in the majority of the patients. In contrast to other liver diseases, portal hypertension may develop in pre-cirrhotic patients with PBC. Patients with PBC have an incidence rate of 3.4 hepatocellular carcinoma cases for every 1000 patient-years and risk factors are advanced stage of the disease and male sex. For the appropriate timing of LT the utility of prognostic models (bilirubin, Mayo risk score and MELD, in particular) and standard exception points in case of HCC are established. However, recent data from different part of the world demonstrated that PBC patients compared to patients with PSC have higher waiting-list mortality. Hyperlipidemia can be present in up to 80% of the patients but there is no evidence for an elevated cardiovascular risk, certainly not in relationship with LT. Patients transplanted for PBC suffer more frequently from acute cellular and also late cellular rejection. However, 5-year patient survival rates after LT of 80-85% is better than for most other indications. Recurrent PBC is reported in a range from 14% up to 42% after LT but in contrast to other autoimmune diseases graft loss due to recurrent disease is not a major issue. The type of immunosuppression after LT was found to be associated with the incidence of recurrence but since mediate-term impact on overall and graft survival is negligible, tacrolimus-based regimens remain standard at most centers. Observational studies suggest that long-term administration of UDCA following LT has a beneficial effect on recurrence of PBC. Therefore biomarkers after LT that may identify patients at risk for recurrence should be further explored to allows early medical intervention.
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PMID:PBC-transplantation and disease recurrence. 3034 4