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

Next > < Previous

Related Solutions

A male in his 80s was referred for an evaluation. He had previously been diagnosed with...

A male in his 80s was referred for an evaluation. He had previously been diagnosed with Alzheimer’s dementia. At the time of evaluation, he was living at home with assistance from his family and caregiver. He is now unable to learn most any new information, and long-term memories are also weak (sometimes forgetting who his wife and children are). He is sometimes hard to understand due to slurring of words, and he appears to see people who are not in...

A male in his 80s was referred for an evaluation. He had previously been diagnosed with...

A middle aged female patient was referred to her primary physician for a lipid evaluation by...

A middle aged female patient was referred to her primary physician for a lipid evaluation by her dermatologist after she developed a papular rash over her trunk and arms. The rash consisted of multiple, red, raised lesions with yellow centers. She has no previous history of such a rash and no family history of lipid disorders or CHD. She is on a standard estrogen replacement therapy as she is postmenopausal, otherwise she is healthy. Lab work for her lipid evaluation...

You have just diagnosed a patient with rheumatoid arthritis in their hands, a chronic, inflammatory disorder...

You have just diagnosed a patient with rheumatoid arthritis in their hands, a chronic, inflammatory disorder that may affect many tissues and organs, but principally attacks the joints producing inflammation and often progresses to destruction of cartilage and joints. Rheumatoid arthritis: extracellular release of lysosomal enzymes. Your patient has a Master of Science in Chemistry, and would like a biochemical explanation of how rheumatoid arthritis is affecting the cells of their hands, so that they can put the disease into...

1. Bill McDonald, 65 years of age, is a male patient diagnosed with chronic obstructive pulmonary...

1. Bill McDonald, 65 years of age, is a male patient diagnosed with chronic obstructive pulmonary disease (COPD). He is going to be discharged with home oxygen at 2 L/min per nasal cannula. According to Medicare guidelines, the patient falls into the group 1 patient category, the patient’s O2 saturation on room air was less than 88% and his PaO2 was less than 55 mm Hg, which was obtained from an arterial blood gas (ABG) at room air. The physician...

The nurse is caring for a client with chronic hepatitis C. The client has recently relapsed...

The nurse is caring for a client with chronic hepatitis C. The client has recently relapsed after interferon alpha therapy. The nurse should anticipate the administration of what drug? a. Zanamivir b. Acyclovir c. Cidofovir d. Ribavirin

Hepatitis C is a chronic liver infection that can be either silent (with no noticeable symptoms)...

Hepatitis C is a chronic liver infection that can be either silent (with no noticeable symptoms) or debilitating. Either way, 80% of infected persons experience continuing liver destruction. Chronic hepatitis C infection is the leading cause of liver transplants in the United States. The virus that causes it is blood borne, and therefore patients who undergo frequent procedures involving transfer of blood are particularly susceptible to infection. Kidney dialysis patients belong to this group. In 2008, a for-profit hemodialysis facility...

Mrs. Nygyen is a 60-year-old patient who has been diagnosed with chronic kidney disease. Mrs. Nygyen’s...

Mrs. Nygyen is a 60-year-old patient who has been diagnosed with chronic kidney disease. Mrs. Nygyen’s past medical history includes diabetes mellitus type 2, osteoarthritis, and hypertension. 1. Upon intake assessment, the nurse notes that Mrs. Nygyen has very dry skin and mucous membranes, mild ecchymosis to the lower extremities, and lung crackles bilaterally. Vital signs include blood pressure of 160/90, pulse 90, respirations 22, and temperature 99.0° F. What assessment data collected by the nurse would indicate that Mrs....

If 2 million people had chronic hepatitis C in the United States last year, and of...

If 2 million people had chronic hepatitis C in the United States last year, and of these 120,000 received treatment that cured them of hepatitis C and 80,000 died. What is the minimum number of new hepatitis C cases that would have to have been reported last year in order for you to conclude that prevalence is increasing?

Mr. Collins is a 55-year-old physician’s assistant with a history of chronic hepatitis C. Past history...

Mr. Collins is a 55-year-old physician’s assistant with a history of chronic hepatitis C. Past history was remarkable for a needle stick injury on the job that occurred two years ago. Following the injury, he initially experienced sporadic episodes of mild flu-like symptoms with fever, chills, and diaphoresis. Over the past six months, his complaints increased to include generalized muscle weakness, fatigue, and weight loss. Mr. Collins is 5’9” tall and weighs 150 pounds with a usual weight of 162....

Subjects