Hypercholesterolemia: Examination

A comprehensive clinical examination is the basis for selecting further diagnostic steps:

  • General physical examination – including blood pressure, pulse, body weight, height; further:
    • Inspection (viewing) of the skin, mucous membranes, and sclerae (white part of the eye).
      • [Arcus lipoides corneae (synonyms: Arcus senilis, gerontoxon, Greisenbogen, Greisenring; annular opacity of the corneal periphery) – before age 50 in men / age 60 in women.
      • Primary hyperlipoproteinemia: xanthomas (small yellowish-white skin lesions) of the skin and tendons.
      • Secondary hyperlipoproteinemia: xanthomas; xanthelasmata (symmetrical yellowish-white skin lesions on the eyelids and inner corner of the eye)]
    • Auscultation (listening)
      • Heart
      • Peripheral and neck arteries [stenosis murmur].
    • Palpation (palpation) of the abdomen (belly), etc.
      • [primary hyperlipoproteinemia: hepatosplenomegaly (enlargement of the liver and spleen); acute pancreatitis (inflammation of the pancreas) in childhood, especially if multiple occurrences]
  • Health check

Patients with familial hypercholesterolemia may have the following typical physical findings, but these are usually absent in familial combined hyperlipidemias.

The following symptoms of hypercholesterolemia may be observed at a young age:

Early atherosclerosis (atherosclerosis, hardening of the arteries) of the vascular system leads to angina pectoris (“chest tightness”; sudden pain in the heart area)/myocardial infarction, peripheral arterial occlusive disease, and even cerebral insult (apoplexy/stroke). Circulatory disorders often occur in childhood. Examination of the peripheral and neck arteries may reveal stenosis sounds (sounds caused by narrowing of the arteries) and possibly absent or diminished pulses.

Xanthomas of the skin and tendons characteristic of familial hypercholesterolemia are found, such as on finger extensor tendons, Achilles tendons, but also on the patella (kneecap) and elbow. Occasionally, planar xanthomas occur in the palms of the hands and in the backs of the knees.

Xanthelasmata occur on the eyelids and an arcus lipoides corneae – a gray-yellow ring that forms as a result of circular lipid deposition – may be observed at the corneal margin.

In the presence of marked hypertriglyceridemia, a prominent fatty liver (steatosis hepatis) may occur. Furthermore, eruptive xanthomas (raised erythematous lesions) are found, preferentially on pressure-dependent parts of the body, such as the extensor sides of the forearms, buttocks, elbows, knees, and thighs. These are reversible after correction of hypertriglyceridemia.

Pancreatitis can be triggered by a triglyceride level > 1,000 mg/dI and presents with upper abdominal symptoms.

The following findings/diseases suggest a secondary etiology (cause) of hyperlipoproteinemia:

  • Obesity (obesity)
  • Diabetes mellitus
  • Hepatomegaly (enlargement of the liver and spleen).
  • Kidney disease
  • Edema (water retention)
  • Gouty tophi (arise reactively in the context of gout; nodular thickening of cartilage tissue innner or near affected joints).
  • Struma

Square brackets [ ] indicate possible pathological (pathological) physical findings.