The following are the most important diseases or complications that may be contributed to by Wilson’s disease (copper storage disease):
Eyes and eye appendages (H00-H59).
- Hemeralopia (day blindness).
- Kayser-Fleischer corneal ring – annular copper deposit at the border between the cornea and sclera; occurs in approximately 90% of patients with neurologic symptoms
- Sunflower cataract – form of cataract.
Blood, blood-forming organs – immune system (D50-D90).
- Anemia (anemia)
- Hemolysis – destruction of erythrocytes (red blood cells).
- Coagulopathy (blood clotting disorders).
- Leukopenia – reduction in the number of white blood cells in the blood.
- Thrombocytopenia – reduction in the number of platelets in the blood.
Endocrine, nutritional and metabolic diseases (E00-E90).
- Hypoparathyroidism (hypothyroidism of the parathyroid gland).
Skin and subcutaneous (L00-L99).
- Acanthosis nigrans – skin disease characterized by extensive hyperpigmentation and hyperkeratosis – preferably of the groin and axillary region.
- Azure lunulae (nail moon; base of the nail bed).
- Hyperpigmentation
- Spider nevi (hepatic stellate nevi)
Cardiovascular system (I00-I99)
- ECG changes, unspecified
- Cardiac arrhythmias, unspecified
- Cardiomyopathy – heart muscle disease leading to impaired cardiac function.
Liver, gallbladder and bile ducts – pancreas (pancreas) (K70-K77; K80-K87).
- Cholelithiasis (gallstones).
- Exocrine pancreatic insufficiency – functional impairment of the pancreas in which too few digestive enzymes are produced.
- Steatosis hepatis (fatty liver)
- Hepatitis (inflammation of the liver)
- Hepatomegaly (liver enlargement)
- Liver cirrhosis – connective tissue remodeling of the liver, which leads to functional impairment.
- Liver failure
- Pancreatitis (inflammation of the pancreas)
- Splenomegaly (enlargement of the spleen)
Liver dysfunction is the first symptom in up to 60% of affected individuals. Mouth, esophagus (esophagus), stomach and intestines (K00-K67; K90-K93).
- Spontaneous bacterial peritonitis (SBP; peritonitis).
Musculoskeletal system and connective tissue (M00-M99).
- Arthritis (inflammation of the joints)
- Degenerative spinal changes
- Osteomalacia – disorder of bone metabolism in adults leading to demineralization and consequent softening of bones.
- Osteoporosis (bone loss)
- 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.
- Rhabdomyolysis – dissolution of striated muscle fibers.
Neoplasms (C00-D48)
- Hepatocellular carcinoma (hepatocellular carcinoma; very rare).
Psyche – nervous system (F00-F99; G00-G99).
- Ataxia (gait disorders)
- Dementia development
- Depression
- Epileptic seizures
- Fine motor disorders
- Hypersalivation (synonyms: sialorrhea, sialorrhea or ptyalism) – increased salivation.
- Coordination disorders
- Personality disorders
- Psychosis
- Writing disorders
- Social disorders
- Spasticity
- Tremor (tremor)/flutter tremor
Symptoms and abnormal clinical and laboratory findings not elsewhere classified (R00-R99).
- Ascites (abdominal dropsy)
- Dysarthria (speech disorder)
- Dysphagia (swallowing disorder)
- Icterus (jaundice)
Genitourinary system (kidneys, urinary tract – reproductive organs) (N00-N99)
- Abortion (miscarriage)
- Amenorrhea – absence of menstruation.
- Renal dysfunction such as hyperphosphaturia (increased excretion of phosphate with urine), hypercalciuria (increased excretion of calcium with urine), glucosuria (excretion of glucose (sugar) with urine), potassium loss, proteinuria (increased excretion of protein with urine), peptiduria
- Testicular dysfunction – hormone production disorders in the testes.
- Urolithiasis (urinary stone disease)
