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MCQ On Wilson’s disease

1. Which one of the following statements regarding genetics of Wilson Disease is false?

1. It is an autosomal recessive disease characterised by hepatic copper accumulation and injury.
2. The gene ATP7B encodes a transmembrane transporter of copper in hepatocytes.
3. Absent or reduced function of ATP7B protein leads to decreased hepatic excretion of copper into bile
4. The gene ATP7B is located on chromosome 6
5. Failure to incorporate copper into ceruloplasmin is an additional consequence of the loss of functional ATP7B protein

Explanation :It is an autosomal recessive disease characterised by hepatic copper accumulation and injury. The gene ATP7B (on chromosome 13) encodes a transmembrane transporter of copper in hepatocytes. Absent or reduced function of ATP7B protein leads to decreased hepatic excretion of copper into bile. This results in hepatic copper accumulation and injury. Eventually copper is released into the bloodstream and deposited in various other organs, notably the brain, kidneys, and cornea. Failure to incorporate copper into ceruloplasmin is an additional consequence of the loss of functional ATP7B protein. The hepatic production and secretion of the caeruloplasmin protein without copper (apocaeruloplasmin) results in the decreased blood levels of caeruloplasmin due to the reduced half-life of the apoprotein.

2. Which one of the following statements regarding copper metabolism is false?

1. The average diet provides 2-5 mg/day (almost 3 times the recommended intake).
2. Most dietary copper ends up being excreted.
3. Copper is absorbed mainly in the terminal ileum
4. The liver utilizes some copper for metabolic needs and excretes excess copper into bile.
5. Eventually copper is released into the bloodstream and deposited in various other organs, notably the brain, kidneys, and cornea.

Explanation :The average diet provides 2-5 mg/day (almost 3 times the recommended intake). Most dietary copper ends up being excreted. Copper is absorbed mainly in the duodenum and proximal small intestine and transported to the liver, where it is avidly removed from the circulation. The liver utilizes some copper for metabolic needs and excretes excess copper into bile. Processes that impair biliary copper excretion can lead to increases in hepatic copper content.

3. Which one of the following statements regarding clinical manifestation in Wilson disease is false?

1. KF ring is present in less than 25% of patients
2. KF ring is difficult to diagnose without a slit lamp
3. The slit lamp findings normalize after effective medical treatment or liver transplant
4. Patients with neurological manifestation will almost invariably have KF ring
5. Sunflower cataracts are copper deposition in the lens.

Explanation :Kayser-Fleischer (KF) rings represent deposition of copper in Descemet’s membrane of the cornea. They appear as a band of golden-brownish pigment near the limbus. A slit-lamp examination is required to identify KF rings in most patients. They may also be found in patients with chronic cholestatic diseases. KF ring is present in up to 62% of patients with hepatic disease at the time of diagnosis. KF rings are almost invariably present in patients with a neurological presentation. Sunflower cataracts, also found by slit-lamp examination, represent deposits of copper in the lens. These typically do not obstruct vision. Both KF rings and sunflower cataracts will gradually disappear with effective medical treatment or following liver transplant.

4. Which one of the following statements regarding laboratory diagnoses of Wilson's disease is true?

1. Serum caeruloplasmin level is low <20 mg/dL
2. Hepatic copper content is high > or =250 µg/g dry weight. (Normal < 50 µg/g).
3. A basal 24-hour urinary copper of more than 40 µg (>0.6 µmoles or >600 nmoles)
4. Total serum copper (which includes copper incorporated in caeruloplasmin) in WD is usually decreased in proportion to the decreased caeruloplasmin in the circulation but serum noncaeruloplasmin-bound copper concentration is elevated above 25 µg/dL in most
5. All of the above

Explanation :WD should be considered in any individual between the ages of 3 and 55 years with liver abnormalities of uncertain cause. Age alone should not be the basis for eliminating a diagnosis of WD. Diagnosis of WD is confirmed, if 2 of the following 3 are present:

Serum caeruloplasmin level <20 mg/dL
Presence of KF ring
Hepatic copper content > or =250 µg/g dry weight. (Normal < 50 µg/g).

A basal 24-hour urinary copper of more than 40 µg (>0.6 µmoles or >600 nmoles) suggests WD. 24-hour urinary copper with Penicillamine challenge increases the sensitivity of the test. Total serum copper (which includes copper incorporated in caeruloplasmin) in WD is usually decreased in proportion to the decreased caeruloplasmin in the circulation but serum noncaeruloplasmin-bound copper concentration is elevated above 25 µg/dL in most untreated patients (normal <15 µg/dL).

5. Wilson Disease should be suspected in all except

1. Aypical autoimmune hepatitis not responding to steroids
2. Young patients with NASH
3. Fulminant hepatic failure in young patients particularly with Coombs negative haemolysis
4. Abnormal LFT and neuro-psychiatric symptoms
5. Second degree relatives of WD

Explanation :WD should be suspected in adult patients with atypical autoimmune hepatitis or who respond poorly to standard corticosteroid therapy. WD should be considered in the differential diagnosis of patients presenting with nonalcoholic fatty liver or who have pathologic findings of NASH. WD should be suspected in any patient presenting with fulminant hepatic failure with Coombs-negative intravascular hemolysis, modest elevations in serum amino transferases, low serum alkaline phosphatase, and ratio of alkaline phosphatase to bilirubin of less than 2. First-degree relatives of any patient newly diagnosed with WD must be screened for WD.

6. Which one of the following statements regarding treatment of Wilson Disease is false?

1. Adequacy of treatment can be monitored by ensuring nonceruloplasmin-bound copper concentration in normal range, and 24-hour urinary copper repeatedly in the range of 200 to 500 µg (3 to 8 µmoles) per day on treatment.
2. Treatment is lifelong and should not be discontinued and should continue even if liver transplant has been performed
3. Zinc is currently reserved for maintenance treatment after chelator has been used for 1-5 years but can be used as the first line for selected presymtomatic patients.
4. Like penicillamine, trientine promotes copper excretion by the kidneys.
5. Penicillamine use is associated with numerous side effects i.e. sensitivity reactions, nephrotoxicity, lupus like syndrome, bone marrow toxicity and hepatotoxicity

Explanation :Treatment is lifelong and should not be discontinued, unless a liver transplant has been performed. Treatment should be initiated with a chelating agent in both symptomatic and asymptomatic or presymptomatic patients identified through family screening. Zinc may be used as the first agent in presymptomatic patients. After adequate treatment with a chelator (usually for 1-5 years), stable patients may be transitioned to treatment with zinc. They will be clinically well, with normal serum aminotransferases and hepatic synthetic function, nonceruloplasmin-bound copper concentration in normal range, and 24-hour urinary copper repeatedly in the range of 200 to 500 µg (3 to 8 µmoles) per day on treatment. The advantages of long-term treatment with zinc include that it is more selective for removing copper than penicillamine or trientine and is associated with few side effects. Adequate studies regarding the timing of this change-over in treatment are not available. No matter how well a patient appears, treatment should never be terminated indefinitely. Patients who discontinue treatment altogether risk development of intractable hepatic decompensation.

7. Which one of the following statements regarding treatment of Wilson Disease is false?

1. Screening for hepatocellular carcinoma has not been recommended for WD patients.
2. The prognosis for patients with liver disease who adhere to effective treatment is excellent, even if cirrhosis was present at the time of diagnosis.
3. Interruption of treatment during pregnancy have resulted in fulminant hepatic failure.
4. Liver transplant is the only effective option for those who present with fulminant hepatic failure.
5. All patients with neurologic symptoms will improve on initiation of treatment with the chelator.

Explanation :Long-term outcome is dependent on adherence to lifelong treatment. Patients with WD who commence treatment before onset of symptomatic hepatic or neurologic disease have an excellent long-term prognosis and rarely develop symptoms. Symptomatic patients may expect to stabilize or improve on treatment. A minority of patients with neurologic disease experience worsening with initiation of therapy: some stabilize but some worsen despite treatment. The prognosis for patients with liver disease who adhere to effective treatment is excellent, even if cirrhosis was present at the time of diagnosis. Development of hepatocellular carcinoma is a rarely reported complication of WD. Screening for hepatocellular carcinoma has not been recommended for WD patients.

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MCQ On Wilson’s disease

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