Willson Hemochromatosis Autoimmune hepatitis

Question 1

Wilson pattern?

Answer 1

Autosomal recessive, ATP7B (sibling genetic testing), symptomatic between 10-25 y

Question 2

Wilson features?

Answer 2

wing beating Tremor, dysarthria, ataxia, Parkinsonism, Low IQ, cirrhosis, Fanconi, RTA 2, osteomalacia, hemolysis, Kaysar fleischer ring ( descemet membrane)

Question 3

Wilson Diagnosis

Answer 3

First ceruloplasmin
High urinary copper level, Low Serum copper ceruloplasmin uric acid
*genetic testing is usually not helpful unless there is FH+

Question 4

Wilson biopsy?

Answer 4

focal necrosis, steatosis, cirrhosis, 5x copper accumulation
amino acid, glucose, calcium high in urine

Question 5

Wilson treatment?

Answer 5

Penicillamine , trienten, zinc acetate (early)

Question 6

Willson life expectency?

Answer 6

Normal life expectancy with today’s technology
*Menkes is like wilson but they die at 3 years old.

Question 7

Hemochromatosis another name?

Answer 7

Bronze diabetes

Question 8

Hemochromatosis pattern?

Answer 8

autosomal recessive, HFE mutation, Chromosome 6, C282Y, Decreased plasma hepcidin,

Question 9

Hemochromatosis features?

Answer 9

women are more immune to symptoms cause of menstrual bleeding.
Tanned, loss of libido, erectile dysfunction, amenorrhea, loss of body hair, pseudogout, chondrocalcinosis, arthralgia MCP 2-3 osteophyte, DM, chronic liver ( palmar erythema, spider naevi), cardiomyopathy, AF, pituitary hypothyroidism, Low testosterone LH FSH

Question 10

Hemochromatosis reversible features?

Answer 10

Reversible: LFT, Cardio, skin pigmentation

Question 11

Hemochromatosis diagnosis?

Answer 11

Diagnosis: Transferrin saturation test increased 55
(High serum iron, Ferritin, Low TIBC
Family members: HFE genetic testing
Diagnosis must be confirmed by C282Y testing before treatment.

Question 12

Hemochromatosis treatment?

Answer 12

Treat: Venesection (Desferramin if cant)
Phlebotomy 1-2 Weekly 500 cc blood, when Ferritin below 1000, damage is significantly reduced, then 2-4 month, target ferritin 50, transferrin saturation below 50,

Question 13

Hemochromatosis in pregnancy management?

Answer 13

No need for treatment if no organ failure

Question 14

Hemochromatosis biopsy?

Answer 14

Perls prussian blue

Question 15

A1 antitrypsin deficiency

Answer 15

COPD+Cirrhosis in ZZ, mild copd in MZ, FH+, PAS +, diastase resistant globules in periportal hepatocytes

Question 16

Budd-chiari syndrome

Answer 16

Obstruction of venous liver, ⅓ idiopathic, other hypercoagulopathy like polycythemia, leukemia, OCP, pregnancy, thrombophilia, Protein C+S deficiency, anti thrombin 3 deficiency

Question 17

Budd-chiari features?

Answer 17

Acute: Abdominal pain, N/V, tender hepatomegaly, ascites
Chronic: Portal HTN , hepatosplenomegaly, jaundice, ascites

Question 18

Budd-chiari biopsy?

Answer 18

centrilobular congestion with fibrosis

Question 19

Budd-chiari diagnosis?

Answer 19

Doppler, hypo attenuation of peripheral zone, poor visualization of hepatic veins, hypertrophy caudate
Venography (gold standard)

Question 20

Budd-chiari treatment?

Answer 20

shunting TIPPS anticoagulation (sometimes liver transplant)

Question 21

Portal Vein thrombosis is?

Answer 21

Portal vein thrombosis is a chronic condition and even asymptomatic sometimes.

Question 22

Gilbert

Answer 22

autosomal recessive, Unconjugated hyperbilirubinemia, 3x men, 10-20y, always less than 10, triggered by fasting/fatigue/dehydration/sickness/alcohol,
UDP glucuronosyltransferase reduced activity
no treatment required ( although phenobarbiturate may help, recheck in 2 weeks)
They have less risk of having IHD and COPD.

Question 23

Crigler najjar

Answer 23

Also UDP deficiency

Question 24

Rotor

Answer 24

Direct, benign, defect hepatic storage bilirubin

Question 25

Dubin Johnson

Answer 25

Iranian jews, benign, MRP2, defect excretion bilirubin, Big Black liver

Question 26

Chronic hepatitis

Answer 26

HBV, HCV, Autoimmune, Willson, Alpha antitrypsin, IBD

Question 27

GGT

Answer 27

present in many tissues, does not always mean liver damage, May be raised in fatty liver, more marker of cholestasis, rather than hepatitis

Question 28

SAAG DD?

Answer 28

High SAAG 1.1, high Protein 2.5: Constrictive pericarditis, RHF, Obstruction IVC sinusoid, early budd chiari High SAAG 1.1, Low Protein 2.5: Cirrhosis, liver metastasis, late budd chiari , myxedema? Low SAAG: Nephrotic syndrome (low low), pancreatitis, biliary leak, peritoneal carcinomatosis, TB

Question 29

Management ascites

Answer 29

Salt restriction, spironolactone/furosomide if Na below 125, fluid restriction, top diuretics and give albumin gelofusine hemoaccel if NA below 125 with high CR or 120 Spironolactone -> add furosemide. albumin if 5lit drain ( to avoid paracentesis induced circulatory dysfunction causing AKI after 5 days) , prophylactic antibiotic in ascites protein below 1.5, TIPS *Remember in acute settings, it might be hepatorenal syndrome and not ascites, so just albumin in those situation and no fluid restriction.

Question 30

Ascites fluid analysis?

Answer 30

SAAG, protein, Cell count , cytology, culture, ADA PCR (TB)

Question 31

*Cirrhosis can cause hypoglycemia. *Entamoeba histolytica causes liver abscess but it's silent and solitary.

Answer 31

*Cirrhosis can cause hypoglycemia. *Entamoeba histolytica causes liver abscess but it's silent and solitary.

Question 32

Liver abscess cause and treatment?

Answer 32

Staph aureus and E.coli and klebsiella are the most common cause of pyogenic liver abscess and are multiple. treat with Ceftriaxone+metronidazole

Question 33

Wernicke

Answer 33

horizontal Nystagmus, ataxia, confusion conjugate gaze palsy/bilateral 6th nerve palsy visual/hearing hallucination, seizure, peripheral neuropathy, treat thiamine 5day TID, 5 Day QD+magnesium before its korsakoff( permanent memory damage)

Question 34

Korsakoff

Answer 34

anterograde (severely) retrograde(moderately) amnesia (unable to form new memories), confabulation, telescoping of memory ( thinks distant memories happened recently )

Question 35

Autoimmune/interface hepatitis

Answer 35

Autoimmune hepatitis 1: Anti SMA, AMA 40%, ANA, IgG, anti actin, piece meal necrosis Autoimmune hepatitis 2: Anti LKM2, ALC-1, ANF, AMA, children only Autoimmune hepatitis 3: Soluble liver kidney antigen, cytokeratin, old

Question 36

NAFLD severe form

Answer 36

NASH ( fat ) -> Steatosis + Inflammation ± Fibrosis hyperecho/ echo bright liver, mallory bodies, brown cirrhosis AST/ALT <1, Weightloss main treatment (NOT RAPID) -> pioglitazone (PPAR Y), vit E , orlistat