II. Pathophysiology

  1. Autosomal Recessive disease
  2. Defect in copper excretion into bile
  3. Copper accumulates from ceruloplasmin cleavage
    1. Initially excessive copper accumulates in liver
    2. Later Copper enters blood when liver storage exceeded
    3. Deposits in extrahepatic sites: brain, eye, Kidney

III. Epidemiology

  1. Rare Incidence
  2. Usually diagnosed between ages 5 to 40 years old

IV. Common presentations

V. Signs

  1. Eye
    1. Mask-like stare
    2. Kaiser-Fleischer rings on Slit Lamp exam
      1. Green, golden, or smoky brown Corneal ring
  2. Skin
    1. Brown Skin Discoloration
    2. Jaundice
    3. Peripheral Edema
    4. Vascular Spiders
  3. Neurologic signs
    1. Resting Tremor (pill-rolling)
    2. Wing-beating Tremor
    3. Intention Tremor
    4. Spasticity
    5. Rigidity
    6. Choreiform movements
    7. Drooling
    8. Dysphagia
    9. Dysarthria
    10. Dystonia
  4. Abdomen
    1. Ascites
    2. Hepatomegaly
  5. Psychiatric signs
    1. Schizophrenia
    2. Manic Depression
    3. Neuroses

VI. Labs

  1. Serum Ceruloplasmin < 200 mg/L
  2. Urinary copper elevated
  3. Liver biopsy
    1. Hepatic tissue copper present >250 ug/g dry weight
    2. Hepatic tissue inflammation, fibrosis or necrosis
    3. May show Cirrhosis

VII. Management

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Ontology: Hepatolenticular Degeneration (C0019202)

Definition (MEDLINEPLUS)

Wilson disease is a rare inherited disorder that prevents your body from getting rid of extra copper. You need a small amount of copper from food to stay healthy. Too much copper is poisonous.

Normally, your liver releases extra copper into bile, a digestive fluid. With Wilson disease, the copper builds up in your liver, and it releases the copper directly into your bloodstream. This can cause damage to your brain, kidneys, and eyes.

Wilson disease is present at birth, but symptoms usually start between ages 5 and 35. It first attacks the liver, the central nervous system or both. The most characteristic sign is a rusty brown ring around the cornea of the eye. A physical exam and laboratory tests can diagnose it.

Treatment is with drugs to remove the extra copper from your body. You need to take medicine and follow a low-copper diet for the rest of your life. Don't eat shellfish or liver, as these foods may contain high levels of copper. At the beginning of treatment, you'll also need to avoid chocolate, mushrooms, and nuts. Have your drinking water checked for copper content and don't take multivitamins that contain copper.

With early detection and proper treatment, you can enjoy good health.

NIH: National Institute of Diabetes and Digestive and Kidney Diseases

Definition (MSHCZE) Wilsonova nemoc / autozomálně recesivně dědičná choroba, při níž je porušen metabolismus mědi. Podstatou je defekt lyzozomálních enzymů (ATPáza zajišťující transport mědi a její biliární sekreci), gen je lokalizován na 13. chromozomu. Měď se hromadí v játrech, je defektní vazba mědi na ceruloplasmin. Má formu hepatální ústící až do jaterního selhání, neurologickou (s poruchou řeči, koordinace pohybů), psychiatrickou, kombinovanou. U pacientů může být Kayserův-Fleischerův prstenec. Koncentrace ceruloplasminu v séru je snížena, rovněž mědi, měď se hromadí v játrech a později též v ledvinách a nervovém systému. V léčbě se uplatňují penicilamin, TETA, zinek, dietní opatření, symptomatická léčba, možná je i transplantace jater. (cit. Velký lékařský slovník online, 2013 http://lekarske.slovniky.cz/ )
Definition (NCI) A rare autosomal recessive inherited disorder caused by mutations in the ATP7B gene. It is characterized by copper accumulation in the tissues, particularly brain and liver. It results in liver failure, neurologic, and psychotic manifestations.
Definition (MSH) A rare autosomal recessive disease characterized by the deposition of copper in the BRAIN; LIVER; CORNEA; and other organs. It is caused by defects in the ATP7B gene encoding copper-transporting ATPase 2 (EC 3.6.3.4), also known as the Wilson disease protein. The overload of copper inevitably leads to progressive liver and neurological dysfunction such as LIVER CIRRHOSIS; TREMOR; ATAXIA and intellectual deterioration. Hepatic dysfunction may precede neurologic dysfunction by several years.
Definition (CSP) rare autosomal recessive disease characterized by the deposition of copper in the brain, liver, cornea and other organs; clinical features include liver cirrhosis, liver failure, splenomegaly, tremor, bradykinesia, dysarthria, chorea, muscle rigidity, Kayser-Fleischer rings (pigmented corneal lesions), ataxia and intellectual deterioration; hepatic dysfunction may precede neurologic dysfunction by several years.
Concepts Disease or Syndrome (T047)
MSH D006527
ICD10 E83.01
SnomedCT 88518009, 191710006, 267504005, 154751003, 192640001, 190823004
English Degeneration, Progressive Lenticular, Progressive Lenticular Degeneration, Pseudosclerosis, Wilson Disease, Wilson's Disease, Wilsons Disease, Degeneration, Hepatolenticular, Lenticular Degeneration, Progressive, Progressive lenticular degener, HEPATIC WILSONS DISEASE, WD, HEPATOLENTICULAR DEGENERATION, WILSON DISEASE, WND, Hepatolenticular Degeneration, HEPATONEUROLOGIC WILSON DIS, WILSONS DIS, WILSON DIS, KINNIER WILSON DIS, Gowers' chorea, familial hepatitis, Westphal pseudosclerosis, Wilson's disease (diagnosis), Hepato-lenticular degeneration, wilsons disease liver, Cerebral Pseudoscleroses, Cerebral Pseudosclerosis, Pseudoscleroses, Cerebral, Pseudosclerosis, Cerebral, Degeneration, Hepatocerebral, Degenerations, Hepatocerebral, Hepatocerebral Degeneration, Hepatocerebral Degenerations, Degeneration, Neurohepatic, Degenerations, Neurohepatic, Neurohepatic Degeneration, Neurohepatic Degenerations, Hepato Neurologic Wilson Disease, Hepato-Neurologic Wilson Disease, Wilson Disease, Hepato-Neurologic, Kinnier Wilson Disease, Kinnier-Wilson Disease, Westphal Strumpell Syndrome, Westphal-Strumpell Syndrome, Wilson disease, Hepatolenticular Degeneration [Disease/Finding], wilsons disease, disease wilsons, wilson's disease, Disease;Wilsons, diseases wilson, hepatolenticular degeneration, disease wilson, disease wilson's, hepato-lenticular degeneration, wilson disease, Hepato-Neurologic Wilson Diseases, Kinnier-Wilson Diseases, Westphal-Strumpell Syndromes, Wilson Diseases, Hepato-Neurologic, Diseases, Hepato-Neurologic Wilson, Diseases, Kinnier-Wilson, Hepatolenticular Degeneration Syndrome, Copper Storage Disease, Wilson's disease *, Wilson's disease * (disorder), Hepatolenticular degeneration syndrome, Hepatolenticular degeneration, Wilson's disease, Cerebral pseudosclerosis, Copper storage disease, Westphal-Strumpell syndrome, Hepatocerebral degeneration, Neurohepatic degeneration, Progressive lenticular degeneration, WD - Wilson's disease, Kinnier-Wilson disease, Cerebral pseudosclerosis (disorder), Westphal-Strumpell syndrome (disorder), Westphal-Strümpell syndrome, Wilson's disease (disorder), degeneration; hepatolenticular, Strümpell-Westphal, Westphal-Strümpell, Wilson; disease or syndrome, hepatolenticular; degeneration, lenticular degeneration; progressive, Westphal Strumpell disease, hepatocerebral degeneration, neurohepatic degeneration, cerebral pseudosclerosis, Wilsons disease
Italian Degenerazione epato-lenticolare, Degenerazione neuroepatica, Malattia di Wilson, Pseudosclerosi cerebrale, Degenerazione lenticolare progressiva, Malattia di Kinnier-Wilson, Pseudosclerosi, Malattia epato-neurologica di Wilson, Degenerazione epatocerebrale, Sindrome di Westphal-Strumpell, Degenerazione epatolenticolare
Dutch ziekte van Wilson, Wilson; ziekte of syndroom, degeneratie; hepatolenticulair, hepatolenticulair; degeneratie, lenticulaire degeneratie; progressief, hepatolenticulaire degeneratie, Cerebrale pseudosclerose, Degeneratie, hepatolenticulaire, Hepatolenticulaire degeneratie, Neurohepatische degeneratie, Pseudosclerose, Wilson-ziekte
Spanish Seudoesclerosis Cerebral, Pseudoesclerosis Cerebral, Pseudoesclerosis, enfermedad de Wilson (trastorno), enfermedad de Wilson, enfermedad por almacenamiento de cobre, pseudoesclerosis cerebral, seudoesclerosis cerebral (trastorno), seudoesclerosis cerebral, síndrome de Westphal - Strumpell, síndrome de Westphal - Strümpell, síndrome de Westphal-Strumpell (trastorno), síndrome de Westphal-Strumpell, síndrome de degeneración hepatolenticular, Degeneración hepatolenticular, Enfermedad de Wilson, Degeneración Hepatolenticular, Degeneración Neurohepática, Seudoesclerosis
Swedish Hepatolentikulär degeneration
Japanese カンレンズカクヘンセイショウ, ウィルソンビョウ, Wilson病, シュトリュンペル・ウェストファール病, ウィルソン病, 仮性硬化症, 偽性硬化, 偽性硬化症, 偽硬化症, 肝レンズ核変性, 肝レンズ核変性症, 進行性レンズ核変性, ウイルソン病
Czech hepatolentikulární degenerace, Wilsonova nemoc, Hepatolentikulární degenerace, Westphalova-Strümpellova pseudoskleróza, progresivní lentikulární degenerace, Westfal-Strümpellova pseudoskleróza, pseudoskleróza, Wilsonova choroba
Finnish Hepatolentikulaarinen degeneraatio
French Pseudosclérose cérébrale, Dégénérescence hépatolenticulaire, Dégénérescence lenticulaire progressive, Dégénérescence hépato-lenticulaire, Dégénérescence hépatocérébrale, Dégénérescence hépatolenticulaire progressive, Maladie de Wilson, Syndrome de Westphal-Strümpell
Russian GEPATOLENTIKULIARNAIA DEGENERATSIIA, VIL'SONA-KONOVALOVA BOLEZN', PSEVDOSKLEROZ, PROGRESSIRUIUSHCHAIA LENTIKULIARNAIA DEGENERATSIIA, VESTFALIA-VIL'SONA-KONOVALOVA BOLEZN', GEPATOTSEREBRAL'NAIA DISTROFIIA, VIL'SONA BOLEZN', ВЕСТФАЛЯ-ВИЛЬСОНА-КОНОВАЛОВА БОЛЕЗНЬ, ВИЛЬСОНА БОЛЕЗНЬ, ВИЛЬСОНА-КОНОВАЛОВА БОЛЕЗНЬ, ГЕПАТОЛЕНТИКУЛЯРНАЯ ДЕГЕНЕРАЦИЯ, ГЕПАТОЦЕРЕБРАЛЬНАЯ ДИСТРОФИЯ, ПРОГРЕССИРУЮЩАЯ ЛЕНТИКУЛЯРНАЯ ДЕГЕНЕРАЦИЯ, ПСЕВДОСКЛЕРОЗ
Croatian HEPATOLENTIKULARNA DEGENERACIJA
Polish Choroba Wilsona, Zwyrodnienie wątrobowo-soczewkowe
Hungarian Hepatolenticularis degeneratio, Wilson-betegség
Norwegian Hepatolentikulær degenerasjon, Wilsons sykdom
Portuguese Degeneração Neuro-Hepática, Degeneração Neuroepática, Degenerescência hepatolenticular, Degeneração Hepatolenticular, Doença de Wilson, Pseudoesclerose Cerebral, Pseudosclerose
German hepatolentikulaere Degeneration, Morbus Wilson, Pseudosklerose, Wilson-Krankheit, Neurohepatische Degeneration, Zerebrale Pseudosklerose, Hepatolentikuläre Degeneration, Progressive lentikuläre Degeneration