Hyperlipoproteinemia physical examination

Lipoprotein Disorders Microchapters
Patient Information
Overview
Causes
Classification Hyperlipoproteinemia Hypolipoproteinemia
Treatment

Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]

Physical Examination

• Xanthomas

  

  Xanthomas

Due to deposition of cholesterol in the skin and the tendons, patients with familial hypercholesterolemia or familial defective apoB-100 may have several types of xanthomas, which include:

• • Planar xanthomas (on hands, elbows, buttocks, or knees), which are diagnostic for the homozygous familial hypercholesterolemia and are distinct from other cutaneous xanthomas because of their yellow-to-orange coloration.
  • Tuberous xanthomas (on hands, elbows, or knees)
  • Tendon xanthomas (on extensor tendons of hands or Achilles tendon), which can be detected by careful palpation rather than simple inspection, which reveals diffusely thickened tendon or discreet irregularities along the tendon.

Patients with homozygous familial hypercholesterolemia may have cutaneous xanthomas at birth or by early childhood and other types of xanthomas are usually obvious in the first decade of life, whereas patients with heterozygous familial hypercholesterolemia may develop xanthomas in third decade of life and later.

• Xanthelasma
• Tendon xanthoma, due to deposition in the tendons
• Arthralgia
• Corneal arcus, due to deposition in the cornea which may also be occasionally present in older adults with normal cholesterol levels(seen below)

‎ Copyleft image obtained courtesy of http://en.wikipedia.org/wiki/File:Four_representative_slides_of_corneal_arcus.jpg#file; Loren A Zech Jr and Jeffery M Hoeg.