Muhad Noorman P, Team Dentowesome, Final year

Reference: Davidsons Internal medicine , Internet

Wilson’s disease, also known as hepatolenticular degeneration and progressive lenticular degeneration, is a rare genetic disorder that causes copper overload in the body.

Common cause of liver cirrohsis in children.

Etiology:- A mutation in the ATP7B gene, which codes for copper transportation, causes Wilson’s disease

Clinical Features:-

Liver related
Nausea, weakness, vomiting, jaundice, bloating, spider angiomas, muscle cramps etc..

Memory, Speech impairments. Altered gait, personality changes, headache, insomnia etc…

Characteristic clinical signs:- SUNFLOWER CATARACT AND KAYSER-FLEISCHER RINGS. KF rings are golden brown ring like discoloration of eyes due to copper deposition.

Lab investigation:- Altered Liver enzymes
Elevated Serum copper level
Increased urinary copper excretion. Low Serum ceruloplasmin level. Liver biopsy will reveal copper deposition. Imaging like MRI/CT for lenticular imaging.

Treatment:-. Copper chelating agents like d-penicillamine, Trientine etc.. can be used. Oral Zinz tetrathiomolybdate can be given ti reduce dietary absorption of Copper.


Muhad Noorman P, Final year, Team dentowesome

Abnormal accumulation of Iron in Liver , Pancreas and heart causing widespread damage of organs resulting in cirrohsis and diabetes mellitus.

Also known as Celtic Curse or Bronze diabetes

Autosomal recessive transmission due to HEF gene mutation.

Clinical features:-

Male : Female ratio = 10:1. Weaknesses, lethargy, diabetes mellitus, liver cirrohsis , arthralgia, skin hyperpigmentation, impotence, hepatomegaly, hypogonadism.

Lab investigation:- Serum Iron
Transferrin saturation > 45%. Plasma ferritin > 200 ng/ml. Liver biopsy (gold standard) > 1000 MCG/L. DNA Mapping study for gene mutation.

Treatment:- Venesection for all people with Iron biochemical overload. Chelating agents like Desferoxamine can be also taken.



•Alcohol is one of the most common cause of chronic liver disease worldwide,the consumption continuing to increase in many countries.

Chronic and excessive alcohol ingestion is a major cause of liver disease and is responsible for nearly 50% of the mortality from all cirrhosis.

•Patients with alcoholic liver disease (ALD) may also have risk factors for the other diseases (eg :- coexisting NAFLD or chronic viral hepatitis infection), and these may interact to increase disease severity.

•Three types of ALD are recognised ,but these overlap considerably ,as do the pathological changes seen in the liver.

Thank you,

Kriti Naja Jain 🙂


  1. Harrision Internal Medicine 19th e
  2. Davidson’s 22nd e