Copper Storage Disease (Wilson’s Disease): Examination

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

  • General physical examination-including blood pressure, pulse, body weight, height.
    • Inspection (viewing)
      • Skin, mucous membranes, and sclerae (white part of the eye) [jaundice* ].
    • Auscultation (listening) of the heart and lungs.
    • Examination of the abdomen (abdomen)
      • Percussion (tapping) of the abdomen
        • [Ascites (abdominal fluid): phenomenon of fluctuation wave. This can be triggered as follows: if one taps against one flank a wave of fluid is transmitted to the other flank, which can be felt by placing the hand on it (undulation phenomenon); flank attenuation.
        • Meteorism (flatulence): hypersonoric tapping sound.
        • Attenuation of the tapping sound due to enlarged liver or spleen, tumor, urinary retention?
        • Hepatomegaly (liver enlargement) and/or splenomegaly (spleen enlargement): estimate liver and spleen size]
      • Palpation (palpation) of the abdomen (abdomen) (tenderness?, knocking pain?, coughing pain?, defensive tension?, hernial orifices?, renal bearing knocking pain?) [hepatomegaly* (liver enlargement); ascites* (abdominal fluid)]
  • Ophthalmic examination – including slit lamp examination (Kayser-Fleischer corneal ring – annular copper deposit at the border between the cornea and sclera; occurs in circa 90% of patients with neurological symptoms).
  • If necessary, neurological examination (see above).
  • Health check

* In up to 60% of affected individuals, liver dysfunction is the first symptom.

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