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171 Possible Causes for Cholestasis, Tendon Xanthomas

  • Sterol 27-Hydroxylase Deficiency

    […] levels may also be reduced or normal), neurological symptoms and tendon xanthomas.[symptoma.com] , all other causes of neonatal cholestasis.[orpha.net] Tendon xanthomas may cause discomfort and interfere with tendon flexibility.[ghr.nlm.nih.gov]

  • Hypercholesterolemia

    Xanthomas are noted commonly on the Achilles tendons and metacarpal phalangeal extensor tendons of the hands.[emedicine.medscape.com] Lipoprotein X (LpX) is an abnormal lipoprotein associated with cholestasis.[ncbi.nlm.nih.gov] Cholestasis induces a dramatic increase in plasma cholesterol and the appearance of an abnormal lipoprotein, lipoprotein X (LpX), in the plasma.[ncbi.nlm.nih.gov]

  • Cerebrotendinous Xanthomatosis

    A physical examination revealed prominent Achilles tendon thickness and plantar xanthomas.[ncbi.nlm.nih.gov] The rare reports of CTX manifest as neonatal cholestasis assess the cholestasis as transient, with patient survival. Our experience differs.[ncbi.nlm.nih.gov] It should be noted that up to 30% of patients with XCT do not present with tendon xanthomas, as in the case reported.[mdsabstracts.org]

  • Heterozygous Familial Hypercholesterolemia

    Sixty-two patients had positive physical examination findings for Achilles tendon xanthomas.[ajronline.org] […] is important to note that before making a phenotypic diagnosis of FH in adults and children, secondary causes of hypercholesterolaemia such as hypothyroidism, nephrosis, cholestasis[racgp.org.au] Tendon xanthomas are cholesterol deposits on tendons that can be felt as bumps on the surface of the backs of the heels and fingers.[ahajournals.org]

  • Familial Hypercholesterolemia

    The case presented here is of a 48-year old male with large tendon xanthomas attributable to CTX.[ncbi.nlm.nih.gov] Liver disease In cholestasis, hypercholesterolaemia occurs with elevated LDL levels. Moderate hypertriglyceridaemia may also occur.[diapedia.org] , Progressive Familial Intrahepatic 2 3 Cholestasis, Progressive Familial Intrahepatic 3 3 Cholestasis, Progressive Familial Intrahepatic 4 2 Cholesterol Monooxygenase (Side-Chain[preventiongenetics.com]

  • Hyperlipoproteinemia Type 4

    Clinical findings: Tendon xanthomas, Xanthelasma, premature coronary artery disease and stroke.[medicowesome.com] Diffuse planar xanthomas are associated with monoclonal gammopathies and cholestasis. [3] In eruptive xanthomas, small yellow papules arising from a slightly wider red base[ijdvl.com] Simon-Broome and Dutch criteria utilize lipid profiles, history of premature CVD, and physical examination findings such as tendon xanthomas from both the patient and family[acc.org]

  • Choledocholithiasis

    Pathogenesis, detection and treatment of Achilles tendon xanthomas. Eur J Clin Invest. 2005;35:236–44.[genereviews.nrdrs.org.cn] We report an extremely rare case of cholelithiasis, presumably owing to cholestasis resulting from an anomalous course of the cystic duct.[ncbi.nlm.nih.gov] Patients with symptoms or signs suggestive of bacterial cholangitis (fever or shaking chills in addition to cholestasis) should be hospitalized.[hepatitis.va.gov]

  • Familial Hypercholanemia

    Affected individuals may develop cataracts during childhood and benign, fatty tumors (xanthomas) of the tendons during adolescence.[rarediseases.org] Reference work entry DOI: 10.1007/978-3-540-29676-8_328 Synonyms PFIC type 1 – Byler’s disease (Amish population), Greenland familial cholestasis (Inuit population), Byler[link.springer.com] Familial cholestasis: progressive familial intrahepatic cholestasis, benign recurrent intrahepatic cholestasis and intrahepatic cholestasis of pregnancy.[emedicine.medscape.com]

  • AMACR Deficiency

    Owing to the formation of deposits of cholesterol and cholestanol, xanthomas appear on the Achilles tendon, the extensor tendons of the elbow and hand, the patellar tendon[humpath.com] Summary Epidemiology Five cases have been reported to date: two siblings presenting with neonatal cholestasis and three adults with neurological disease.[orpha.net] In general, patients display neurological sequelae, including encephalopathy, peripheral neuropathy; cholestasis has also been observed.[symptoma.com]

  • Cholelithiasis

    Pathogenesis, detection and treatment of Achilles tendon xanthomas. Eur J Clin Invest. 2005;35:236–44.[genereviews.nrdrs.org.cn] Abstract Sickle cell intrahepatic cholestasis (SCIC) is a rare complication seen in sickle cell patients who present with sudden onset of RUQ pain, progressive hepatomegaly[ncbi.nlm.nih.gov] There is a brief discussion of the clinical manifestations of inflammatory and obstructive cholestasis and the impact on bile metabolism and subsequently on liver function[ncbi.nlm.nih.gov]

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