Gastroenterology Book

http://www.fpnotebook.com/

Wilson's DiseaseAka: Hepatolenticular Degeneration

Advertisement

  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. Usually diagnosed under age 40 years
  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. Intention Tremor
      3. Spasticity
      4. Rigidity
      5. Choreiform movements
      6. Drooling
      7. Dysphagia
      8. Dysarthria
      9. 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 (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.
ConceptsDisease or Syndrome (T047)
ICD9275.1
MSHD006527
EnglishCerebral Pseudoscleroses, Cerebral Pseudosclerosis, Copper storage disease, familial hepatitis, Gowers' chorea, HEPATIC WILSONS DISEASE, Hepato Neurologic Wilson Disease, Hepato-Neurologic Wilson Disease, Hepato-Neurologic Wilson Diseases, Hepatocerebral Degeneration, Hepatocerebral Degenerations, Hepatolenticular Degeneration, Hepatolenticular degeneration syndrome, HEPATONEUROLOGIC WILSON DIS, KINNIER WILSON DIS, Kinnier Wilson Disease, Kinnier-Wilson Disease, Kinnier-Wilson Diseases, Neurohepatic Degeneration, Neurohepatic Degenerations, Progressive lenticular degeneration, Pseudosclerosis, WD, WD - Wilson's disease, Westphal pseudosclerosis, Westphal Strumpell disease, Westphal Strumpell Syndrome, WESTPHAL-STRUEMPELL PSEUDOSCLEROSIS, Westphal-Strumpell Syndrome, Westphal-Strumpell Syndromes, WILSON DIS, Wilson Disease, Wilson's Disease, Wilson's disease *, WILSONS DIS, Wilsons Disease, wilsons disease liver, WND
Spanishenfermedad de Wilson, enfermedad por almacenamiento de cobre, pseudoesclerosis cerebral, seudoesclerosis cerebral, sindrome de degeneracion hepatolenticular, sindrome de Westphal - Strumpell, sindrome de Westphal-Strumpell
Parent ConceptsDisorder of copper metabolism NOS (C0012714), Liver diseases (C0023895), Metal Metabolism, Inborn Errors (C0025534), Basal Ganglia Diseases (C0004782), Movement Disorders (C0026650), Heredodegenerative Disorders, Nervous System (C0751870), Brain Diseases, Metabolic, Inborn (C0752109), Amino Acid Metabolism, Inborn Errors (C0002514), Eye diseases (C0015397), Degenerative brain disorder (C0154671), Autosomal recessive hereditary disorder (C0265388), Disorder presenting primarily with chorea (C0393572), Metabolic and genetic disorder affecting the liver (C0400963), Duplicate concept (C1274013), Digestive system hereditary disorder (C1285252), Hereditary disorder of nervous system (C1285380), Disorder of head (C1290856)
SourcesAOD, CSP, DXP, LCH, MEDLINEPLUS, MSH, MTH, MTHICD9, NDFRT, OMIM, QMR, RAM, SCTSPA, SNOMEDCT
Derived from the NIH UMLS (Unified Medical Language System)



Navigation Tree