Since TX may not have obvious visible symptoms, confirming a diagnosis involves identifying related factors:

  • Non-articular, soft-tissue pain in the known areas for lipid deposits:
    • Achilles Tendon
    • Extensor tendons of the fingers and toes
    • Plantar fascia (bottom of feet)
    • Patellar tendons surrounding the knee
  • Sustained, untreated high LDL cholesterol levels, and more rarely, mixed elevations of cholesterol and trigycerides
  • Swollen or painful Achilles Tendon
  • Other Xanthomas, including
    • Xanthelasmas, yellowish deposits around your eyes
    • Tuberous Xanthomas, red-yellow nodules, often over knees or elbows
    • Plane (Palmar) Xanthomas, patchy yellow areas of the skin
  • Arcus Cornea, a white or gray opaque ring in the corneal edge
  • A family history of early coronary heart disease

Ultrasonography, CT and MR imaging can all be used to detect and monitor the presence and progress of TX, but finding a lab with the experience to perform the tests may be a challenge.

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