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58 Cards in this Set
- Front
- Back
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Autosomal recessive condition involving a mutation on Chromosome 6; associated with HLA-A3
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Hereditary Hemochromatosis
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Describe Hereditary Hemochromatosis
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Mutation on chromosome 6 causing EXCESSIVE ABSORPTION OF IRON IN THE INTESTINAL MUCOSA
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What are the causes of Secondary Hemochromatosis?
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Iron Overload
-repeated transfusions -ineffective Erythropoiesis (thalassemia, sideroblastic anemia) -increased dietary iron uptake (Bantu in S. Africa) Chronic Liver disease in which iron can't be metabolized -Alcoholic -HCV |
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What is the classic triad associated with Hereditary Hemochromatosis?
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1. Cirrhosis w/ Hemosiderosis
2. "Bronze Diabetes" 3. Skin Hyperpigmentation *also Cardiomyopathy, Arthritis, & Hypogonadism |
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What is the treatment for Hereditary Hemochromatosis?
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Phlebotomy + Deferoxamine
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What are the lab values in Hereditary Hemochromatosis?
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1. increased Ferritin
2. increased Iron 3. decreased TIBC 4. increased Transferrin saturation |
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Hereditary Hemochromatosis
-hepatocytes are filled with blue iron granules |
What is seen here?
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What is the microscopic difference between Hemochromatosis & Hemosiderosis?
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in Hemosiderosis, iron deposits are more prevalent in Kupffer cells than in parenchymal tissue (hepatocytes)
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Disease in which the gene for ATP-dependent metal ion transporter (ATP7B) on Chromosome 13 is mutated; results in defective excretion of Copper into Bile -> Copper spills into blood
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Wilson Disease
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List the pathologies seen in Wilson Disease
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1. Fatty liver -> Acute & Chronic Hepatitis -> Cirrhosis
2. Degeneration of Basal Ganglia in the brain = asterixis, Parkinsonian symptoms, choreiform movements, dementia 3. Kayser-Fleischer ring in Cornea 4. Renal tubular damage = aminoaciduria & glycosuria |
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What are the lab findings are associated with Wilson Disease?
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1. low Serum Ceruloplasmin
2. high tissue Copperl levels 3. increased urinary copper excretion |
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Kayser-Fleischer ring
Wilson's disease = increased Copper accumulation |
What is this lesion called?
What disease? |
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Autosomal recessive mutation in which a small protease inhibitor cannot be secreted & remains in liver cells
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Alpha-1-Antitrypsin deficiency
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What percent of homozygotes with Alpha-1-Antitrypsin disease actually develop liver disease?
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10-20%
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Explain Alpha-1-Antitrypsin deficiency
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PiZZ genotype results in 90% inhibition of hepatic secretion of AAT which results in its accumulation in the liver
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Alpha-1-antitrypsin deficiency
-PAS with AAT granule accumulation |
What is seen here?
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What are the possible pathologies seen in AAT deficiency?
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1. Micronodular Cirrhosis & increased risk of HCC
2. Panacinar Emphysema |
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Chronic Hepatitis that occurs in the association with other autoimmune disorders (Thyroiditis, Sjogren, SLE)
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Autoimmune Hepatitis
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What is the gender preference for Autoimmune Hepatitis? What HLA's are associated with it?
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F:M = 7:3
HLA-B8 & HLA-DRw3 |
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What autoantibodies are associated with Autoimmune Hepatitis?
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1. Anti-nuclear Antibody (ANA)
2. Anti-Smooth Muscle Antibody (ASM) |
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What is the treatment for Autoimmune Hepatitis?
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Corticosteroid therapy
-decreases the incidence of cirrhosis to only 5% |
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Chronic autoimmune progressive disease due to destruction of the Bile Ducts from non-suppurative Granulomas in Portal Triads
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Primary Biliary Cirrhosis
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Autoimmune destruction of Bile Ducts in Portal Triads
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Primary Biliary Cirrhosis
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What is the gender preference for Primary Biliary Cirrhosis?
What autoantibodies are present 90% of the time? |
F:M = 10:1
Anti-mitochondrial (Mitochondrial Pyruvate Kinase) |
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What are the clinical findings in Primary Biliary Cirrhosis?
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1. Middle-aged women with other autoimmune diseases
2. Progressive Jaundice 3. Skin itching = due to bile salts in skin 4. Xanthomas = cholesterol uptaken by macrophages |
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What lab findings are associated with Primary Biliary Cirrhosis?
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1. increased Bilirubin
2. increased Alk. Phos. 3. increased Cholesterol 4. Anti-mitochondrial Ab |
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What would a biopsy show in Primary Biliary Cirrhosis?
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Granulomatous destruction of Bile ducts in portal triads
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Primary Biliary Cirrhosis
-destruction of Bile Ducts by periportal granuloma formation -lymphocyte infiltration into portal tract |
What is this showing?
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Chronic progressive pericholangitis of intrahepatic & extrahepatic Bile Ducts with concentric fibrosis -> obstruction of bile flow -> cirrhosis
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Primary Sclerosing Cholangitis
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What is the gender preference in Primary Sclerosing Cholangitis? What is it associated with?
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M:F = 2:1
Ulcerative Colitis |
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What autoantibody is present in 80% of cases with Primary Sclerosing Cholangitis?
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P-ANCA
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Cholangiography shows "Beading Strictures" in this Liver disease
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Primary Sclerosing Cholangitis
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Liver disease associated with Ulcerative Colitis
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Primary Sclerosing Cholangitis
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Primary Sclerosing Cholangitis
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What schematic does this represent?
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Primary Sclerosing Cholangitis = fibrosing destruction of INTRAHEPATIC BILE DUCTS
Males = 2:1 Ulcerative Colitis |
What liver disease is this?
Gender preference? Associated disease? |
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Occlusion of the Hepatin Vein by a thrombus, often resulting in death
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Budd-Chiari Syndrome
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What is Primary Sclerosing Cholangitis associated with an increased incidence of ?
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Cholangiocarcinoma
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What possible etiologies could cause Budd-Chiari Syndrome?
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1. Polycythemia vera
2. Pregnancy 3. Oral Contraceptives 4. Paroxysmal Nocturnal Hemoglobinuria 5. Hepatocellular CA 6. Idiopathic |
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Budd-Chiari Syndrome
-Centrilobular congestion & necrosis with sinusoidal dilation |
What is this showing?
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List the 3 Benign Tumors of the liver
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1. Hemangioma
2. Liver Cell Adenoma 3. Focal Nodular Hyperplasia |
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Benign tumor of the liver associated with oral contraceptive use & can rupture causing Hematoperitoneum
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Liver Cell Adenoma = Hepatic Adenoma
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Most common Benign tumor of the Liver
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Hemangioma
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Circumscribed nodule found in an otherwise normal liver; represents a hamartoma composed of liver cells arranged around a central fibrotic scar containing thick-walled vessels
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Focal Nodular Hyperplasia
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Liver Cell Adenoma
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What is seen here?
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Liver Cell Adenoma
-resembles normal liver except for the lack of Portal Tracts |
What is seen here?
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Focal Nodular Hyperplasia
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What Benign Liver tumor is seen here?
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List the Malignant tumors of the liver
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1. Hepatocellular Carcinoma
2. Cholangiocarcinoma 3. Angiosarcoma (rare) 4. Metastases to the Liver |
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What is Hepatocellular Carcinoma associated with?
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HBV
HCV Cirrhosis Alcohol consumption Aflatoxin B1 |
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What is the gender ratio for Hepatocellular Carcinoma?
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Male:Female = 4:1
also more common in African-Americans |
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What lab finding is associated with Hepatocellular Carcinoma?
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serum Alpha-Fetoprotein (AFP)
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What is the most common malignant tumor of the liver?
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Metasteses to the liver
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What are the most common primary sites of Metastases of the liver?
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1. Lung (most common)
2. GI tract 3. Breast |
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What are Angiosarcomas associated with?
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Vinyl chloride, throtrast, arsenic exposures
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Hepatocellular Carcinoma
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What is seen here?
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Hepatocellular Carcinoma
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What is seen here?
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Cholangiocellular Carcinoma = adenocarcinoma arising from bile duct epithelium
Clonorchis Sinensis |
What is shown here? What is an associated cause?
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Def: Adenocarcinoma arising from bile duct epithelium
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Cholangiocarcinoma
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Metastatic Carcinoma
-Lung -Colon -Breast |
What is seen here?
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