Iron
The first joint (s) involved in hemochromatosis if arthropathy is present
What is 2nd & 3rd metacarpophalangeal joints?
Note: arthropathy affects 25-50% of patients with hemochromatosis. 2nd / 3rd MCP joints are usually affected first. A progressive polyarthritis of the wrists, hips, ankles and knees may also occur.
Copper deposition in the outer rim of the cornea
What is Kayser-Fleischer ring ?
Treatment that improves biochemical and histologic features and decreases the rate of disease progression, although does not reverse or cure primary biliary cholangitis
What is ursodeoxycholic acid ?
Also accept: ursodiol, UDCA
Hallmark laboratory features of alcoholic liver disease
What is AST:ALT ratio > 2:1 ?
Acute viral hepatitis most likely to progress to chronic hepatitis
What is Hepatitis C virus ?
Therapeutic modality that decreases liver size, improves liver function, improves diabetes in 1/2 of patients, decreases skin pigmentation, and may reverse CHF if present in hemochromatosis
What is phlebotomy ?
Note: Phlebotomy has little effect on arthropathy. Phlebotomy may decrease hypogonadism if started before 40. If cirrhosis is already present, the condition is irreversible.
The best initial test in diagnosis of Wilson's disease, although does not provide for a definitive diagnosis
What is (decreased) ceruloplasmin ?
Note: Aways assess LFTs & coagulation factors in patients suspected to have Wilson's disease. Decreased ceruloplasmin is the best initial test in diagnosis although urinary 24 hr copper excretion should also be obtained and is increased in Wilson's disease. Kayser-Fleischer rings can only definitively be diagnosed by an ophthalmologist via slit lamp examination. Liver biopsy is the gold standard diagnostic study.
A laboratory value on liver function testing that is particularly characteristic of primary sclerosis cholangitis
What is increased alkaline phosphatase ?
Note: P - ANCA is another important laboratory value that is associated with primary sclerosing cholangitis and should be committed to memory
Alcoholic liver disease is, classically, divided into these three lesions
What is fatty liver, alcoholic hepatitis, & cirrhosis ?
Antibody present in autoimmune hepatitis
What is anti - smooth muscle antibodies ?
Also accept: anti - LKM (liver kidney microsome) antibodies, anti - SLA (soluble liver antigen) antibodies.
Possibly accept: ANAs
Iron studies in hemochromatosis (comment on iron, % transferrin saturation, ferritin, & TIBC
What is increased serum iron, increased % transferrin saturation, increased ferritin, and decreased TIBC.
Note: iron studies are considered the best initial test in hemochromatosis
Damage to this area of the brain in Wilson's disease results in dystonia, incoordination, dysarthria, dysphagia, and tremor
What is the basal ganglia ?
Note: From a neurologic standpoint, Wilson's disease can resemble Parkinson's disease; sensory and muscular abnormalities are unusual. From a psychiatric standpoint, behavioral disturbances in the form of depression, hyperactivity, loss of sexual inhibition, and loss of emotional control are characteristic.
Imaging technique of choice in primary sclerosing cholangitis
What is magnetic resonance cholangiopancreatography ?
Note: Findings on MRCP include multifocal stricturing & beading involving both intrahepatic and extra hepatic biliary tree
The two most important risk factors in the development of alcoholic liver disease
What is quantity of alcohol consumption & duration of alcohol intake ?
Non-LFT related laboratory value associated with non-alcoholic fatty liver disease (present in 50% of patients)
What is increased ferritin levels ?
Patients with hemochromatosis are at increased risk of this malignancy
What is hepatocellular carcinoma ?
First line therapy for Wilson's disease
What is D-penicillamine ?
Note: D - peniillamine is often taught to be the 1st line therapy in Wilson's disease, however it can worsen existing neurologic disease. CBCs should be monitored due to risk of bone marrow suppression. Trientine and zinc are actually probably better choices for the treatment of Wilson's disease
Antibody present in 90% of patients with primary biliary cholangitis (previously primary biliary cirrhosis) that are not pathogenic but can be used as a marker of disease
What is anti-mitochondrial antibodies ?
Disulfiram leads to nausea and vomiting thus providing negative feedback for drinking alcohol by inhibition of this enzyme
What is acetaldehyde dehydrogenase ?
Note: Disulfiram is used in the treatment of alcohol cessation. In the liver, ethanol is converted into acetaldehyde by alcohol dehydrogenase. Acetaldehyde is then converted into acetate by acetaldehyde dehydrogenase. Disulfiram inhibits acetaldehyde dehydrogenase leading to the accumulation of acetaldehyde.
Alpha 1 anti-trypsin functions in the lung by inhibiting the activity of this enzyme
What is elastase ?
In hemochromatosis, if anemia or hypoproteinemia are severe enough to preclude phlebotomy, this medication is indicated
What is deferoxamine ?
New drug emerging for initial neurologic therapy in Wilson's disease
What is tetrathiomolybdate ?
Note: liver transplantation is the only mode of therapy that is possibly curative in a select number of cases
All patients with primary sclerosing cholangitis should have this procedure performed at the time of diagnosis (or shortly thereafter)
What is colonoscopy ?
Note: Patients with PSC should have a colonoscopy performed to assess for ulcerative colitis and malignancy. Patients are at increased risk of cholangiocarcinoma and colon cancer
Inclusion found in the cytoplasm of liver cells that are highly eosinophilic & appear pink on H & E stain - once thought to be specific for alcoholic hepatitis and alcoholic cirrhosis but now known to be found in many disorders that result in cirrhosis
What are Mallory bodies ?
Note: mallory bodies can be seen in PBC, wilson's disease, NAFLD, HCC, among other conditions. Ballooning degeneration, spotty necrosis, neutrophil infiltrate, and fibrosis of the perivenular and perisinusoidal space of disse are other lesions that might be seen histologically in alcoholic hepatitis and alcoholic cirrhosis
Aggregated deformed polymers of alpha 1 anti-trypsin accumulate in this intracellular organelle
What is the endoplasmic reticulum ?
Note: The name A1AT deficiency is a misnomer. Patients with this condition actually do have alpha 1 anti trypsin, however, it is unable to exit the hepatocyte. A1AT accumulates in the hepatocyte endoplasmic reticulum and results in liver damage.