Gastroenterology Book

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Wilson Disease

Aka: Wilson Disease, Wilson's Disease, Hepatolenticular Degeneration
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  1. 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
  2. Epidemiology
    1. Rare Incidence
    2. Usually diagnosed between ages 5 to 40 years old
  3. Common presentations
    1. Mild Liver Function Test Abnormality
    2. Asymptomatic Hepatomegaly
    3. Neurologic change
    4. Fulminant Hepatitis with Hemolysis
  4. 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
  5. 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
  6. Management
    1. Penicillamine

Hepatolenticular Degeneration (C0019202)

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 (MEDLINEPLUS)

Wilson disease is a rare inherited disorder that causes your body to retain copper. Normally, your liver releases copper it doesn't need into bile, a digestive fluid. With Wilson disease, this does not happen. Copper builds up in your liver and injures liver tissue. Over time, the damage causes your liver to release the copper directly into your bloodstream. The blood carries copper all over your body. Too much copper can damage your kidneys, liver, brain and eyes.

Usually the build-up of copper starts after birth. Symptoms usually start between ages 6 and 20, but can begin as late as age 40. The most characteristic sign is a rusty brown ring around the cornea of the eye.

If you have Wilson disease, you will have to take medicine and follow a low-copper diet for the rest of your life. With early detection and proper treatment, a person with Wilson disease can enjoy normal health.

NIH: National Institute of Diabetes and Digestive and Kidney Diseases
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, 192640001, 190823004, 154751003, 267504005, 191710006
English Degeneration, Progressive Lenticular, Progressive Lenticular Degeneration, Pseudosclerosis, Wilson Disease, Wilson's Disease, Wilsons Disease, Degeneration, Hepatolenticular, LENTICULAR DEGENERATION, PROGRESSIVE, Lenticular Degeneration, Progressive, WESTPHAL-STRUEMPELL PSEUDOSCLEROSIS, 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, disease wilson, disease wilson's, hepato-lenticular degeneration, wilson disease, Copper Storage 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, 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), hepatolenticular degeneration, degeneration; hepatolenticular, Strumpell-Westphal, Strümpell-Westphal, Westphal-Strumpell, Westphal-Strümpell, Wilson; disease or syndrome, hepatolenticular; degeneration, lenticular degeneration; progressive, Wilson's disease * (disorder), Wilson's disease *, 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, Wilson's disease, 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, Degeneracion Hepatolenticular, Degeneracion Neurohepatica
Swedish Hepatolentikulär degeneration
Japanese ｶﾝﾚﾝｽﾞｶｸﾍﾝｾｲｼｮｳ, ｳｨﾙｿﾝﾋﾞｮｳ, 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, 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
Portuguese Degenerescência hepatolenticular, Degeneração Hepatolenticular, Degeneração Neurohepática, Doença de Wilson, Pseudoesclerose Cerebral, Pseudosclerose
German hepatolentikulaere Degeneration, Morbus Wilson, Pseudosklerose, Wilson-Krankheit, Neurohepatische Degeneration, Zerebrale Pseudosklerose, Hepatolentikuläre Degeneration, Progressive lentikuläre Degeneration
Sources
Derived from the NIH UMLS (Unified Medical Language System)


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