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969 Possible Causes for Autosomal Dominant, Xanthelasma, Xanthoma

  • Hypercholesterolemia

    Distinct, histology-proven xanthelasma palpebrarum and orbital xanthogranuloma rarely occur together in the literature.[] The xanthomas also regressed and disappeared by 3 years of age.[] RATIONALE: Autosomal-dominant hypercholesterolemia (ADH) is characterized by elevated low-density lipoprotein cholesterol levels and increased risk for coronary vascular disease[]

  • Heterozygous Familial Hypercholesterolemia

    Tendon xanthomas are seen in 20-40% of individuals with FH and are pathognomonic for the condition. [7] A xanthelasma or corneal arcus may also be seen.[] Sixty-two patients had positive physical examination findings for Achilles tendon xanthomas.[] HeFH is an autosomal dominant disorder; if one inherits the mutated gene that causes high cholesterol levels from only one parent, HeFH will be inherited.[]

  • Familial Hypercholesterolemia

    He had tendinous xanthomas, xanthelasmas and elevated levels of total and LDL cholesterol, at 11.2 and 9.69 mmol/L, respectively, with normal levels of HDL cholesterol and[] The case presented here is of a 48-year old male with large tendon xanthomas attributable to CTX.[] Autosomal dominant hypercholesterolemia (ADH; OMIM144400), a risk factor for coronary heart disease, is characterized by an increase in low-density lipoprotein cholesterol[]

  • Homozygous Familial Hypercholesterolemia

    She was then incidentally found to have severe xanthelasma and hypercholesterolemia (serum TC 15.3 mmol/L and LDL-C 13.9 mmol/L).[] Physical examination revealed tuberous xanthomas on the processus olecrani, as well as smaller tendinous and tuberous xanthomas on the hands.[] Homozygous familial hypercholesterolemia (FH) is an autosomal dominant disease caused by a mutation in the low-density lipoprotein (LDL) receptor.[]

  • Alagille Syndrome

    Alagille syndrome causes intractable pruritus and disfiguring xanthomas because of retained bile acids and cholesterol.[] 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[] […] syndrome is a hereditary disease resulting in chronic cholestasis and hypercholesterolemia that can lead to severe and intractable pruritus and disfiguring and debilitating xanthomas[]

  • Familial Partial Lipodystrophy

    Variable symptoms may comprise pancreatitis and/or eruptive xanthomas due to severe hypertriglyceridemia, acanthosis nigricans, polycystic ovaria, and carpal tunnel syndrome[] Autosomal dominant familial partial lipodystrophy (FPLD) due to mutant LMNA encoding nuclear lamin A/C is characterized by adipose tissue repartitioning together with multiple[] Xanthoma and nail changes may occur. Type 3 is due to mutations in the PPARG gene. It is rare with approximately 30 cases reported to date.[]

  • Hyperlipoproteinemia Type 2b

    […] left lower eyelid Xanthelasma of left upper eyelid Xanthelasma of right eyelid Xanthelasma of right lower eyelid Xanthelasma of right upper eyelid Xanthoma of eyelid Xanthoma[] Dominant, Type B EnglishOMIM 144010 L6506378no S7518660 Y HYPERCHOLESTEROLEMIA, AUTOSOMAL DOMINANT, TYPE B EnglishMEDCIN 38631 L7070148no S8277886 Y familial defective apolipoprotein[] Dominant 1 2 Deafness, Autosomal Dominant 10 3 Deafness, Autosomal Dominant 12 2 Deafness, Autosomal Dominant 13 2 Deafness, Autosomal Dominant 15 2 Deafness, Autosomal Dominant[]

  • Hyperlipoproteinemia Type 5

    Figure- showing Xanthelasma palpebrum Tuberous xanthomas are firm, painless, red-yellow nodules.[] Showing of 6 Percent of people who have these symptoms is not available through HPO Autosomal dominant inheritance 0000006 Decreased HDL cholesterol concentration Decreased[] dominant dopa-responsive dystonia Autosomal dominant myoglobinuria Autosomal dominant optic atrophy and cataract Autosomal dominant optic atrophy and peripheral neuropathy[]

  • Familial Hyperlipidemia

    The physical exam should look for tendon xanthomas, xanthelasma, corneal arcus, evaluation of pulses of major arteries and signs of aortic stenosis.[] 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[] […] 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[]

  • Lipodystrophy

    Patients may also present with dermatologic manifestations like eruptive xanthomas, hirsutism, and thick, curled scalp hair.[] Congenital analbuminaemia is a very rare autosomal dominant disorder in which patients have no serum albumin and markedly low serum total protein concentration.[] Eruptive xanthomas are not frequent. In the literature, there are several reports of umbilical hernia in patients with BSCL [ 12 , 22 ].[]

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