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A patient is diagnosed with chronic hepatitis and was referred to a gastrointestinal specialist for evaluation...

A patient is diagnosed with chronic hepatitis and was referred to a gastrointestinal specialist for evaluation of elevated bilirubin and serum aminotransferases. The patient has a decreased ability to concentrate while studying but ignored it due to stress. The doctor requested for a liver biopsy which suggested a result of autoimmune hepatitis. But, the original and repeat lab tests of ANA titers are negative. The patient denies fever, vomiting, nausea, gastroesophageal reflux, melena, diarrhea, and a change in bowel habits. Family history is non-contributory and physical test is unremarkable.

A) What trace element should be screened in this scenario?

B) Does this suggest an autoimmune disorder? If yes, what is the disorder?

C) what are the (2) specific measurements you should recommend for additional lab testing?

D) Why do you have to run the measurements from your answer in C? What are the implications?

E) Enumerate other possible clinical manifestations of the disorder that can be helpful in the diagnosis

Solutions

Expert Solution

A. Wilson's disease is a defect in which there is decreased biliary excretion and decrease in the formation of ceruloplasmin.This in turn decrease copper elimination from the liver.Accumulation of copper damages the organ Here this patient should be screened for copper.

B Yes this suggest a autoimmune disorder called Wilson's disease.

Wilson's disease is a autosomal recessive disorder.Chromosome 13 is defective and affects copper transporting protein ATP7B in the liver.In this disease there is reduction in formation and secretion of ceruloplasmin and reduction in copper elimination.

C .In physical examination doctor will check signs of liver damage,changes in skin,swelling of leg and enlargement of spleen.

In slit eye test doctor will look for Kayser Fleischer rings in patients eye . They are the best initial test for the indication of wilson's disease.

Check for sunflower cataract in the lens of the patient.

In this patient certain lab testing has to be done :

1.Urinary Copper Excretions -Level of copper is increased in Wilson's disease due to decreased binding of copper to ceruloplasmin.When 24 hour secretion of copper is equal or greater than 100 mcg ,a diagnosis of wilson's disease can be confirmed.

2..Serum ceruloplasmin concentration-In wilson's disease , majority of the patient have low serum ceruloplasmin levels.The level of serum ceruloplasmin is<2 mg/dL in Wilson's disease.

C.Serum ceruloplasmin test is done because ceruloplasmin is a protein that carries copper in the blood stream .In Wilson's disease majority of the patient have low ceruloplasmin.

Urinary copper Excretion test is done because people with wilson's disease have low copper level than normal person.

E.Clinical manifestation of Wilson's disease:

1.Hepatic disease : Majority of the patient have signs of chronic hepatitis or cirrhosis.Most of the pathological findings suggest that patient have auto immune hepatitis.

2.Asymptomatic Liver Function Abnormalities:There will be increased serum aminotransferase and bilirubin.

3.Fulminant Hepatic Failure:In young adults hemolytic anemia,dark urine, hemoglobinuria and hepatocellular necrosis is found.In these cases urgent transplantation of liver is necessary.

4.Liver Biopsy: pathological findings in liver biopsy suggest auto immune hepatitis.

5 Lab findings:Serum ceruloplasmin concentration is low in Wilson's disease.Low serum copper concentration in Wilson's disease.

6.Neuro problems: Someof the patients have speech slurring, drooling, uncoordinated gait and tremor.Few percentage of patients have depression, paranoia and reduced social activities.

7.Kayser-Fleischer rings are gray green rings present in inferior corner of cornea.They can be detectable by slit lamp exam.

8.Sunflower Cataracts are copper deposits in the eye

9.Arthopathy: Premature arthritis and calcinosis in the knee.

Nightingale answered 2 years ago
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