What is the finding seen in this image and what is the associated disease?
String sign; Crohn's disease
Pictured is the large intestine of a 25-year-old female with a history of bloody diarrhea and weight loss. What is the likely diagnosis?
Ulcerative colitis (pseudopolyps)
What is the name for this classic ocular finding, and with which disease is it associated?
Kayser-Fleischer ring; associated with Wilson's disease
What cancer is associated with Wilson's disease?
What movement disorder is associated with Wilson's disease?
Choreiform movements due to preferential copper deposition in the basal ganglia
With what medication are patients with Wilson's disease treated?
With what pattern of inheritance is Wilson's disease passed?
What specific type of anemia is associated with Wilson's disease?
Hemolytic anemia (remember ABCD to recall the other common findings: Asterixis, Basal ganglia degeneration, Ceruloplasmin [decreased], Cirrhosis, Corneal deposits, Copper accumulation, Carcinoma (hepatocellular), Choreiform movements, and Dementia)
A 30-year-old patient presents with new-onset dementia, choreiform movements, and flapping hand tremor; he also has severely elevated liver enzymes and discolored rings around his irises on ocular exam. What lab results will confirm the diagnosis? How will you treat the patient?
This patient has Wilson's disease. Decreased ceruloplasmin; chelation with penicillamine
Hemochromatosis classically affects what three organs?
Liver, skin, and pancreas
Hemochromatosis classically causes what liver finding?
A man presents to the office with new-onset insulin-dependent diabetes. His skin is darkly pigmented and he is found to have elevated liver enzymes. What is his likely diagnosis?
Iron deposition in the heart due to hemochromatosis can lead to what condition?
Congestive heart failure secondary to restrictive cardiomyopathy
Hemochromatosis is associated with an increased risk of what cancer?
With what pattern of inheritance is primary hemochromatosis passed?
True or False: It is possible to develop hemochromatosis without being genetically predisposed to the disease.
True (secondary hemochromatosis); due to recurrent blood transfusions
What is the most common cause of secondary hemochromatosis?
Chronic transfusion therapy
Describe ferritin capacity, iron capacity, and total iron-binding capacity and transferrin saturation in patients with hemochromatosis.
High; high; low; high
What two treatments are often used for hemochromatosis?
Repeated phlebotomy and deferoxamine chelation
Hemochromatosis is associated with what genetic marker?
Human leukocyte antigen A3
Is primary sclerosing cholangitis intrahepatic, extrahepatic, or both?
Both; the entire biliary tree is affected
What is the underlying change in primary sclerosing cholangitis?
Fibrosis of the bile ducts
What is likely to be found on biopsy of a patient with primary biliary cirrhosis?
Lymphocytic infiltrate and granulomas
What is the appearance of primary sclerosing cholangitis on endoscopic retrograde cholangiopancreatography?
Alternating strictures and dilation of the bile ducts, which is also called " beading"
Which symptoms are common in the presentation of biliary tract disease?
Jaundice, light stool, pruritus, dark urine
What disease is associated with primary sclerosing cholangitis?
Which autoantibodies are seen in the serum of patients with primary biliary cirrhosis?
The biliary stasis caused by PSC can be so severe as to cause liver failure, a process known as what?
Secondary biliary cirrhosis
What abnormal lab results are common to most forms of biliary tract disease?
Increased conjugated bilirubin, cholesterol, and alkaline phosphatase
Primary biliary cirrhosis is commonly associated with what autoimmune disorders?
Rheumatoid arthritis, CREST syndrome, celiac disease