Copper Storage Disease (Wilson’s Disease): Symptoms, Complaints, Signs

The following symptoms and complaints may indicate Wilson’s disease (copper storage disease):

Initially, the disease begins uncharacteristically and develops insidiously only after copper storage capacity is exceeded. Patients complain of preceding phases of fatigue, anorexia (loss of appetite), loss of performance, fatigue, or nonspecific abdominal pain. Leading symptoms

Gastrointestinal/liver symptoms.

  • Ascites (abdominal dropsy)
  • Abdominal pain, nonspecific
  • Icterus (jaundice)

Liver dysfunction is the first symptom in up to 60% of affected individuals:

  • Asymptomatic transaminase elevation with/without hepatosplenomegaly (liver and spleen enlargement).
  • Chronic (active) hepatitis with steatosis hepatis (fatty liver) with/without icterus (jaundice).
  • Liver cirrhosis with/without ascites; possibly acute variceal hemorrhage with portal hypertension (pulmonary hypertension).
  • Cholelithiasis/gallstones (pigment stones) in hemolysis (dissolution of red blood cells).
  • Acute liver failure (ALV) with/without Coombs-negative hemolysis with/without renal failure,
  • Hepatocellular carcinoma (HCC; hepatocellular carcinoma; very rare).
  • In pregnancy: “HELLP-like syndrome” (see below Hypertensive pregnancy diseases).

Organ involvement from A-Z

Eye symptoms

  • Hemeralopia (night blindness; limitation of vision in dim light).
  • Kayser-Fleischer corneal ring (pathognomonic ring; characteristic of the disease) – golden-brown-green discoloration at the corneal rim due to ring-shaped copper deposition at the border between the cornea and sclera; occurs in circa 90% of patients with neurologic symptoms
  • Sunflower cataract – form of cataract.

Gastrointestinal symptoms (gastrointestinal tract).

  • Abdominal pain, non-specific
  • Pancreatitis (inflammation of the pancreas)

Hematological symptoms (blood and blood-forming organs).

Skin or nail symptoms.

  • Acanthosis nigrans – skin disease characterized by extensive hyperpigmentation and hyperkeratosis – preferably the groin and axillary region.
  • Hyperpigmentation
  • Nail symptoms: Azure lunulae (nail moon; base of nail bed).
  • Spider nevi (liver starlets)

Hormonal symptoms

  • Abortion (miscarriage)
  • Amenorrhea – absence of menstruation.
  • Hypoparathyroidism (parathyroid insufficiency).
  • Infertility
  • Pubertas tarda – delayed or even complete lack of pubertal developmentTesticular dysfunction – hormone production disorders in the testes.

Cardiac symptoms

  • ECG changes, unspecified
  • Cardiac arrhythmias, unspecified
  • Cardiomyopathy – heart muscle disease leading to impaired cardiac function.

Liver-related symptoms

  • Liver dysfunction is the first symptom in up to 60% of affected individuals (see above).

Musculoskeletal symptoms

  • Arthralgia (joint pain)
  • Bone pain
  • Muscle weakness
  • Osteomalacia – disorder of bone metabolism in adults leading to demineralization and consequent softening of bones.
  • Rickets – disorder of bone metabolism in children in the growth phase, leading to marked demineralization of bone and skeletal changes due to retardation of bone growth.

Nephrological symptoms

  • Renal dysfunction such as hyperphosphaturia (increased renal phosphate excretion), hypercalciuria (increased urinary calcium excretion), glucosuria (increased urinary glucose excretion), potassium loss, proteinuria (increased urinary protein excretion), peptiduria.
  • Urolithiasis (urinary stone disease).

Neurological symptoms

  • Akinetic-rigid syndrome* – slowing of movement (bradykinesia) or lack of movement (akinesia); increased muscle tone that manifests as increased resistance during passive movements of an extremity (rigidity).
  • Ataxia (gait disorders)
  • Depression
  • Dysarthria (speech disorder)
  • Dysphagia (swallowing disorder)
  • Dystonia* – presence of persistent or intermittent involuntary muscle tension.
  • Epileptic seizures
  • Fine motor disorders
  • Hypersalivation (synonyms: sialorrhea, sialorrhea or ptyalism) – increased salivation.
  • Hypomimia – reduction in movement of the facial muscles.
  • Coordination disorders
  • Parkinson’s-like symptoms
  • Writing disorders
  • Spasticity and flexion contractures
  • Tremor* (tremor) (here: flutter tremor; wing-beating tremor): wing-beating tremor is referred to as such because the tremor is reminiscent of the flapping of a bird’s wings when the hands and arms are flexed with increasing amplitude (English “wing-beating tremor”).

* Neurological symptoms similar to Parkinson’s disease.

Mental and cognitive disorders

  • Cognitive decline in performance
  • Concentration disorder
  • Personality disorders
  • Psychosis
  • Social disorders
  • Behavioral disorder

Initial symptoms (5 years of age – infancy)

Eye symptoms

  • Discrete/incomplete Kayser-Fleischer corneal ring – golden-brown-greenish discoloration at the corneal margin due to annular copper deposition at the border between the cornea and sclera; occurs in circa 90% of patients with neurologic symptoms

Hematologic symptoms (blood and blood-forming organs).

Liver symptoms

  • Asymptomatic disorders or minor biochemical disorders (transaminases ↑; bilirubin ↑) with/without hepatosplenomegaly (liver and spleen enlargement).
  • Virus-negative acute hepatitis (liver inflammation) with/without icterus (jaundice).
  • Icteric relapses
  • Hepatosplenomegaly
  • Acute liver failure (ALV)

Mental and cognitive disorders

  • Concentration disorder