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314 Possible Causes for Autosomal Dominant, Peripheral Vascular Disease, Xanthoma

  • Homozygous Familial Hypercholesterolemia

    Physical examination revealed tuberous xanthomas on the processus olecrani, as well as smaller tendinous and tuberous xanthomas on the hands.[ncbi.nlm.nih.gov] Less common are cerebrovascular disease, peripheral vascular disease and aortic aneurysm.[rarediseases.org] Homozygous familial hypercholesterolemia (FH) is an autosomal dominant disease caused by a mutation in the low-density lipoprotein (LDL) receptor.[ncbi.nlm.nih.gov]

  • Heterozygous Familial Hypercholesterolemia

    Sixty-two patients had positive physical examination findings for Achilles tendon xanthomas.[ajronline.org] Those with HeFH have livers that have trouble keeping LDL in check, leaving patients vulnerable to coronary artery disease, cerebrovascular disease, peripheral vascular disease[patientworthy.com] Less frequently, HeFH manifests in cerebral or peripheral vascular disease.[symptoma.com]

  • Familial Hyperlipidemia

    Hyperchylomicronemia LPL or Apo-CII deficiency (Can't breakdown TGs and Chylomicrons) Elevations in TGs and chylomicrons Decreased levels of LDL and HDL Risk of pancreatitis and xanthomas[quizlet.com] […] with FCH Chromosome locus (specific region) 1q21-q23 has been linked to FCH APOA5 gene association with APOA1/CIII/AIV has also been linked to FCH Autosomal dominant: Autosomal[dovemed.com] 2 Patient with premature* cerebral or peripheral vascular disease 1 Physical examination Tendinous xanthomata 6 Arcus cornealis prior to age 45 years 4 Cholesterol level,[mdcalc.com]

  • Hypercholesterolemia

    The xanthomas also regressed and disappeared by 3 years of age.[ncbi.nlm.nih.gov] RATIONALE: Autosomal-dominant hypercholesterolemia (ADH) is characterized by elevated low-density lipoprotein cholesterol levels and increased risk for coronary vascular disease[ncbi.nlm.nih.gov] 2 Patient with premature* cerebral or peripheral vascular disease 1 Physical examination Tendinous xanthomata 6 Arcus cornealis prior to age 45 years 4 Cholesterol level,[mdcalc.com]

  • Familial Hypercholesterolemia

    The case presented here is of a 48-year old male with large tendon xanthomas attributable to CTX.[ncbi.nlm.nih.gov] Autosomal dominant hypercholesterolemia (ADH; OMIM144400), a risk factor for coronary heart disease, is characterized by an increase in low-density lipoprotein cholesterol[ncbi.nlm.nih.gov] Complications may include: Heart attack at an early age Heart disease Stroke Peripheral vascular disease Seek medical care right away if you have chest pain or other warning[nlm.nih.gov]

  • Hyperlipidemia

    We report a case of perineural xanthoma arising in a patient with type 2 DM and hyperlipidemia.[ncbi.nlm.nih.gov] dominant Associated with eruptive xanthomas, diabetes and pancreatitis Secondary hyperlipidemia : Alcoholism Diabetes Cushing syndrome Renal failure Cholestasis Nephrotic[pathologyoutlines.com] Longstanding elevated cholesterol is typically associated with cardiovascular disease and therefore, can lead to heart attack, stroke and/or peripheral vascular disease.[shcs.ucdavis.edu]

  • Alagille Syndrome

    Alagille syndrome causes intractable pruritus and disfiguring xanthomas because of retained bile acids and cholesterol.[ncbi.nlm.nih.gov] Autosomal Dominant Genetic Disorders Recently Answered 4 Answers A Marfan’s (a condition that affects the body’s connective tissue) affects approximately 1 in 5,000 people[sharecare.com] Screening for other vascular anomalies, such as aneurysms or stenoses, such be considered.[reference.medscape.com]

  • Hyperlipoproteinemia Type 5

    […] common of the xanthomas.[namrata.co] Clinical findings: Palmar xanthomas, increased risk for coronary artery and peripheral vascular disease. Type IV hyperlipoproteinemia Increase in VLDL.[medicowesome.com] Showing of 6 Percent of people who have these symptoms is not available through HPO Autosomal dominant inheritance 0000006 Decreased HDL cholesterol concentration Decreased[rarediseases.info.nih.gov]

  • Hyperlipoproteinemia Type 3

    […] common of the xanthomas.[namrata.co] […] recessive or autosomal dominant condition (that is, if the trait has been inherited from both parents).[britannica.com] People with this condition have a significantly increased risk for coronary artery disease and peripheral vascular disease.[medlineplus.gov]

  • Hyperlipoproteinemia Type 2b

    IIb or III hyperlipoproteinemia Hypercholesterolemia with endogenous hyperglyceridemia Hyperbetalipoproteinemia with prebetalipoproteinemia Tubo-eruptive xanthoma Xanthoma[icd9data.com] Dominant, Type B EnglishOMIM 144010 L6506378no S7518660 Y HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, TYPE B EnglishMEDCIN 38631 L7070148no S8277886 Y familial defective apolipoprotein[doctor.am] It is characterized by the early onset of cardiovascular disease and peripheral vascular disease.[en.wikipedia.org]

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