Which physical findings are characteristic of low LDL cholesterol syndromes?

Updated: Mar 06, 2018
  • Author: Vibhuti N Singh, MD, MPH, FACC, FSCAI; Chief Editor: George T Griffing, MD  more...
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Answer

The physical examination usually reveals fat malabsorption stigmata, spinocerebellar tract involvement, and ocular involvement. Some of the signs encountered due to fat malabsorption may include the following:

  • Gastroenterologic - Patients may have abdominal distension.

  • Neurologic

    • The first sign of disease is usually the loss of deep tendon reflexes.

    • Next, distal lower extremity vibratory and proprioceptive senses decrease.

    • Cerebellar signs, such as dysmetria, ataxia, and spastic gait, then ensue.

    • Finally, patients develop extensor plantar responses.

  • Ophthalmologic

    • Patients develop angioid streaks and retinal degeneration (or retinitis pigmentosa). [18]

    • Ophthalmoplegia is also reported.

  • Hepatic - Patients may have an enlarged, fatty liver with signs of chronic liver disease (eg, cirrhosis).


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