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TEN WAYS TO PROMOTE TEN WAYS TO PROMOTE RELATIONSHIPS WITH PATIENTS RELATIONSHIPS WITH PATIENTS 1. 1. Greet patients by name, tell them Greet patients by name, tell them your name and role in their care your name and role in their care 2. 2. Smile Smile 3. 3. Sit down when talking to patients Sit down when talking to patients 4. 4. Listen Listen 5. 5. Be wholly present with Be wholly present with interacting with patients and interacting with patients and avoid unnecessary interruptions avoid unnecessary interruptions Wright, et al; Am J Med 2005
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TEN WAYS TO PROMOTE RELATIONSHIPS WITH PATIENTS

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TEN WAYS TO PROMOTE RELATIONSHIPS WITH PATIENTS. Greet patients by name, tell them your name and role in their care Smile Sit down when talking to patients Listen Be wholly present with interacting with patients and avoid unnecessary interruptions. Wright, et al; Am J Med 2005. - PowerPoint PPT Presentation
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  • TEN WAYS TO PROMOTE RELATIONSHIPS WITH PATIENTSGreet patients by name, tell them your name and role in their careSmileSit down when talking to patientsListenBe wholly present with interacting with patients and avoid unnecessary interruptionsWright, et al; Am J Med 2005

  • TEN WAYS TO PROMOTE RELATIONSHIPS WITH PATIENTSLearn who your patients are and consider sharing something about yourself with themShow the utmost respect for all patientsBe humanistic, compassionate, and caringEven if it is a struggle to think positively of a patient, always speak of them in a positive way; this will influence your thinking positivelyIf you are feeling negative emotions towards a patient, try to understand why you are feeling this way

    Wright, et al; Am J Med 2005

  • The most common metabolic liver disease in children is:A) Alpha-1 Antitrypsin deficiencyB) HemochromatosisC) Wilsons DiseaseD) Cystic FibrosisE) Familial Intrahepatic Cholestasis

  • The most common metabolic liver disease in children is:A) Alpha-1 Antitrypsin deficiencyB) HemochromatosisC) Wilsons DiseaseD) Cystic FibrosisE) Familial Intrahepatic Cholestasis

  • The least common metabolic liver disease in children is:A) Alpha-1 Antitrypsin deficiencyB) HemochromatosisC) Wilsons DiseaseD) Cystic FibrosisE) Familial Intrahepatic Cholestasis

  • The least common metabolic liver disease in children is:A) Alpha-1 Antitrypsin deficiencyB) HemochromatosisC) Wilsons DiseaseD) Cystic FibrosisE) Familial Intrahepatic Cholestasis

  • AGA Clinical Teaching Project: Unit 8

  • Which of the following is not seen in HH?A) HepatomegalyB) Hypogonadotropic hypogonadismC) HypothyroidismD) Heart FailureE) Destructive arthritisF) Erythrocytosis

  • Which of the following is not seen in HH?A) HepatomegalyB) Hypogonadotropic hypogonadismC) HypothyroidismD) Heart FailureE) Destructive arthritisF) Erythrocytosis

  • HEREDITARY HEMOCHROMATOSISDefinition and InheritanceIncreased intestinal absorption of ironDeposition in multiple parenchymal organsAutosomal recessiveCommon in Caucasianshomozygote frequency - 0.5%heterozygote frequency - 10%

  • HFE GENE Discovered in 1996 Two mutations initially described (C282Y and H63D)60-100% of patients with HH are C282Y/C282Y5-10% of patients with clinically significant iron overload dont have HFE mutations

  • Adams, et al; NEJM 2005

  • Adams, et al; NEJM 2005

  • HFE AND IRON OVERLOAD Supporting evidenceWild type and H63D protein bind to -2 microglobulin (-2 M)expressed on the cell surface facilitates iron uptakeC282Y protein does not bind to -2 M and is not expressed on the cell surfaceHFE knock out mice and -2 M knockout mice develop HHWe still dont know how the mutated HFE protein causes iron overload

  • There are 4 types of iron overload- can you rank them in terms of severity?Type 1: HFE related HH (adult)Type 2A: Hemojuvelin related juvenile HCType 2B: Hepcidin related juvenile HCType 3: Transferrin receptor 2 HC (adult)Type 4: Ferroportin related iron overload (note: this is the only AD one)

  • Pietrangelo, et al; NEJM 2004

  • HEPCIDIN 25 aa peptide synthesized in hepatocytesHAMP gene on chromosome 19qStimulated by inflammation and iron excessDown-regulates ferroportin-mediated release from enterocytes, placenta, and macrophages Levels increase 100X in anemia of of chronic disease Park et al. J Biol Chem 2001.

  • HEPCIDIN-2Hepcidin mRNA induced by dietary and parenteral iron overloadAnemia and hypoxia suppress hepcidin Hepcidin KO mice develop iron overloadOver expression leads to iron deficiencyHFE KO mice and humans with HH have inappropriately low hepcidin levelsAhmad Blood Cells Mol Dis. 2002; Bridle Lancet 2003

  • Papanikolaou Nature Genetics 2004

  • The earliest sign of HC is:A) elevated ferritinB) elevated transferrin saturationC) Impaired OGTTD) 1st and 2nd MCP joint destruction

  • The earliest sign of HC is:A) elevated ferritinB) elevated transferrin saturationC) Impaired OGTTD) 1st and 2nd MCP joint destruction

  • Fleming; NEJM 2005

  • Pietrangelo, et al; NEJM 2004

  • Pietrangelo, et al; NEJM 2004

  • 30 yo asymptomatic female is referred for elevated serum iron studies obtained as part of her routine health evaluation. Iron = 180 g/dl (normal 35-145); TS% = 80% (normal 14-50%); ferritin = 80 g/L (normal 20-200). PMH and FMH are unremarkable. She consumes 3 glasses of wine per week and does not use iron supplements. Exam is normal. Repeat TS is 74%. What would you recommend?1. No further evaluation2. HFE gene test3. Therapeutic phlebotomy4. MRI of the liver to look for iron deposition5. HFE gene test and phlebotomy

  • 30 yo asymptomatic female is referred for elevated serum iron studies obtained as part of her routine health evaluation. Iron = 180 g/dl (normal 35-145); TS% = 80% (normal 14-50%); ferritin = 80 g/L (normal 20-200). PMH and FMH are unremarkable. She consumes 3 glasses of wine per week and does not use iron supplements. Exam is normal. Repeat TS is 74%. What would you recommend?1. No further evaluation2. HFE gene test3. Therapeutic phlebotomy4. MRI of the liver to look for iron deposition5. HFE gene test and phlebotomy

  • Recheck in 1 yearFasting, morning TS % > 45%StopNoRepeat TS % and serum ferritin elevatedSecondary iron overload?HFE gene testingTreat and recheckYesYesNoNoYesClinical Suspicion of HH

  • WHO SHOULD BE TESTED FOR HH?Adult 1st degree relatives of a proband (HFE)Patients with persistent liver test abnormalities or chronic liver disease (TS%)Patients with one or more symptoms/signs suggestive of HH (TS%)diabetesheart failure or cardiac arrhythmiasyoung patients with DJDPatients with porphyria cutanea tarda (HFE)

  • HEREDITARY HEMOCHROMATOSISClinical FeaturesIron accumulation is slow (1-2 mg excess iron per day)Clinical manifestations often do not occur until 5th decadeClinical manifestations in females may be mild and/or delayedAlcohol, hepatitis C, and other ill-defined environmental and genetic factors may influence disease progression

  • A 30 yo asymptomatic female is referred for elevated serum iron studies obtained as part of her routine health evaluation. Iron = 180 g/dl (normal 35-145); TS% = 80% (normal 14-50%); ferritin = 80 g/L (normal 20-200). PMH and FMH are unremarkable. She consumes 3 glasses of wine per week and does not use iron supplements. Exam is normal. Repeat TS is 74%. She is homozygous for C282Y. She asks about treatment. What would you recommend?1. Phlebotomy2. Deferoxamine3. No treatment but follow iron tests4. A low iron diet

  • A 30 yo asymptomatic female is referred for elevated serum iron studies obtained as part of her routine health evaluation. Iron = 180 g/dl (normal 35-145); TS% = 80% (normal 14-50%); ferritin = 80 g/L (normal 20-200). PMH and FMH are unremarkable. She consumes 3 glasses of wine per week and does not use iron supplements. Exam is normal. Repeat TS is 74%. She is homozygous for C282Y. She asks about treatment. What would you recommend?1. Phlebotomy2. Deferoxamine3. No treatment but follow iron tests4. A low iron diet

  • POPULATION SCREENING STUDIESGenotype and Phenotype*TS% > 50%

  • A 30 yo asymptomatic female is referred for elevated serum iron studies obtained as part of her routine health evaluation. Iron = 180 g/dl (normal 35-145); TS% = 80% (normal 14-50%); ferritin = 80 g/L (normal 20-200). PMH and FMH are unremarkable. She consumes 3 glasses of wine per week and does not use iron supplements. Exam is normal. Repeat TS is 74%. She is homozygous for C282Y. She inquires about screening her brothers and daughter. What would you suggest?1. No screening necessary2. HFE gene test for both3. Transferrin saturation for both4. HFE gene test for her brothers

  • A 30 yo asymptomatic female is referred for elevated serum iron studies obtained as part of her routine health evaluation. Iron = 180 g/dl (normal 35-145); TS% = 80% (normal 14-50%); ferritin = 80 g/L (normal 20-200). PMH and FMH are unremarkable. She consumes 3 glasses of wine per week and does not use iron supplements. Exam is normal. Repeat TS is 74%. She is homozygous for C282Y. She inquires about screening her brothers and daughter. What would you suggest?1. No screening necessary2. HFE gene test for both3. Transferrin saturation for both4. HFE gene test for her brothers

  • HFE Gene Test(adults only)Family History of C282Y Homozygous HHC282Y homozygoteC282Y HeterozygoteNo C282Y MutationNo further evaluationSerum TS % and FerritinIncreasedNormalFollow and consider liver biopsy or trial of quantitative phlebotomy if ferritin is >500 g/LSerum TS % and FerritinLiver biopsy and phlebotomyFerritin elevated but < 1000 g/L and normal ASTFerritin > 1000 g/L and/or elevated ASTPhlebotomyFerritin normalRepeat ferritinannually

  • One of her brothers is homozygous for C282Y. His serum iron is 220 g/dl, TS=88% and ferritin 575 g/L. His liver tests are normal. He is healthy and asymptomatic. He consumes 1 alcoholic beverage per day. What would you recommend?1. Liver biopsy followed by phlebotomy2. Phlebotomy3. MRI to assess hepatic iron stores4. Stop alcohol and repeat iron tests in 3 mos5. Observation

  • One of her brothers is homozygous for C282Y. His serum iron is 220 g/dl, TS=88% and ferritin 575 g/L. His liver tests are normal. He is healthy and asymptomatic. He consumes 1 alcoholic beverage per day. What would you recommend?1. Liver biopsy followed by phlebotomy2. Phlebotomy3. MRI to assess hepatic iron stores4. Stop alcohol and repeat iron tests in 3 mos5. Observation

  • LIVER BIOPSY IN HEMOCHROMATOSISRationaleconfirm diagnosisexclude cirrhosisLiver biopsy not needed to confirm diagnosis of HH in patients homozygous for C282Y with an elevated transferrin saturation and ferritin.Cirrhosis rare in C282Y homozygotes with ferritin < 1000 g/L and normal aminotransferases.

  • CP1022478-3

  • In a patient with HH and cirrhosis, the risk of HCC isA) Higher than that of viral hepatitisB) Lower than viral but higher than NASHC) Lower than NASH, but higher than cholestatic diseasesD) very low

  • In a patient with HH and cirrhosis, the risk of HCC isA) Higher than that of viral hepatitisB) Lower than viral but higher than NASHC) Lower than NASH, but higher than cholestatic diseasesD) very low

  • HEMOCHROMATOSIS AND CIRRHOSISMajor predictor of survivalComplications of ESLD uncommonDeath usually due to liver cancer 30% with HH cirrhosis develop HCC200X increased risk Risk persists despite iron depletionHCC rare in the absence of cirrhosis

  • Liver biopsy histology and HIC consistent with HH?CP1134735-1Clinical suspicion of HHFasting, morning TS% >45%Repeat TS% and ferritin > normalYesSecondary iron overload?HFE gene testing; C282Y homozygote?NoYes1.Ferritin
  • HEREDITARY HEMOCHROMATOSIS TreatmentTreat HH patients with an elevated ferritinPhlebotomy - the preferred treatment modality500 ml per week500 ml blood = 250 mg ironGoal ferritin < 50 ug/L +/- TS% < 50%Maintenance approximately every 3 monthsDesferoxamine - infrequently used

  • CP1134735-7Response of Transferrin Saturation and Serum Ferritin to PhlebotomyHepatology A Textbook of Liver Disease, ed. Zakim and BoyerTransferrin saturation (%)Cumulative iron removal (g)Serum ferritin (ng/mL)Months020406080100051015202505001,0001,5002,0002,500

  • HEMOCHROMATOSISIncreased skin pigmentationIncreased liver biochemistriesCirrhosisHepatocellular carcinomaArthropathy (m-p joints) ChondrocalcinosisBlue=reversible, yellow=usually not reversible; Modified from AGA clinical teaching projectCP1134735-8

  • HEREDITARY HEMOCHROMATOSIS Other managementAvoidETOHiron and vitamin C supplementsraw shellfishA low iron diet is not necessaryVaccinate against hepatitis A and B

  • A 35 yo female is found to have an elevated serum ferritin. Serum iron 120 g/dl, TS%=35%, ferritin=814 g/L. PMH: Hepatitis CMeds: MVI with iron (for 1 year) PE: NormalLabs: Hgb= 11 g/dl. AST=95, ALT= 134, the rest of her liver tests are normal.What is the most likely explanation for her abnormal serum iron studies?1. Hereditary hemochromatosis2. Anemia3. Hepatitis C4. Excess iron supplementation

  • A 35 yo female is found to have an elevated serum ferritin. Serum iron 120 g/dl, TS%=35%, ferritin=814 g/L. PMH: Hepatitis CMeds: MVI with iron (for 1 year) PE: NormalLabs: Hgb= 11 g/dl. AST=95, ALT= 134, the rest of her liver tests are normal.What is the most likely explanation for her abnormal serum iron studies?1. Hereditary hemochromatosis2. Anemia3. Hepatitis C4. Excess iron supplementation

  • Differential Diagnosis of an Isolated Elevated Serum FerritinInfection, inflammation or malignancyChronic liver diseaseFerroportin diseaseAceruloplasminemia (rare)Hereditary hemochromatosis (rare)Hyperferritinemia cataract syndrome

  • FERROPORTIN DISEASEFirst reported in 1999SLC40A1 gene on chromosome 2qIron exporter (enterocyte, placenta, liver and macrophage)Autosomal dominant iron overload disorderThe second most common inherited form of iron overload

  • FERROPORTIN DISEASE Clinical ManifestationsElevated serum ferritin is the first clinical manifestation (usually in the first decade)TS% elevated as iron overload more severeClinical manifestations tend to be mildHepatic fibrosis absent or mild in mostMild anemia common

  • Causes of Iron Overload

    HFE- related (Type 1)C282Y/C282YC282Y/H63DOther HFE mutations

    Secondary Iron OverloadIron-loading anemiasParenteral iron overloadChronic liver disease

    Non-HFE relatedJuvenile (Type 2)TfR-2 mutations (Type 3)FP-1 mutations (Type 4)African Iron overload

    MiscellaneousNeonatal iron overloadAceruloplasminemiaCongenital atransferrinemia

    Hereditary Hemochromatosis

  • 55 yo male with elevated serum iron studies. He has diabetes, arthritis, impotence and atrial fibrillation. He consumes 2-3 beers per week.PE-irregular heart rhythmLabs: Iron= 210 g/dl, TS%= 90%, ferritin=1714 g/L. Liver tests, abdominal ultrasound and HFE gene test are normal. Which of the following would you recommend?1. No additional evaluation2. Therapeutic phlebotomy3. Liver biopsy4. MRI to look for hepatic iron deposition

  • 55 yo male with elevated serum iron studies. He has diabetes, arthritis, impotence and atrial fibrillation. He consumes 2-3 beers per week.PE-irregular heart rhythmLabs: Iron= 210 g/dl, TS%= 90%, ferritin=1714 g/L. Liver tests, abdominal ultrasound and HFE gene test are normal. Which of the following would you recommend?1. No additional evaluation2. Therapeutic phlebotomy3. Liver biopsy4. MRI to look for hepatic iron deposition

  • End of part 1

  • Hx: 18 yo asymptomatic male referred for 6 mo hx of abnl liver tests. Recent poor school performance and diagnosis of ADD. No other medical problems.Exam: mildly obese, no stigmata chronic liver disease. Labs: AST 65, ALT 87, bili1.2, ALP 120. HBV and HCVserologies and autoantibodies neg. Ceruloplasmin 21.2 (nl 22.9-43.1).Bx: mild steatosis with minimal inflammation and no fibrosis.What is the most appropriate next step?1. start ursodiol to treat NAFLD2. recommend an attempt at weight loss and repeat liver tests in 6 months3. obtain a quantitative hepatic copper4. perform a copper stain on the liver biopsy

  • WD OVERVIEWAutosomal recessivehomozygote frequency 1:30,000heterozygote frequency 1:100Impaired biliary excretion of copperExcess copper deposits in the liver, brain, cornea and other organs

  • WD HEPATIC MANIFESTATIONSInitial clinical manifestation in 40% Median age 12-23 yearsFulminant, chronic hepatitis (5-30%) or cirrhosisAdvanced fibrosis at young age but HCC rareKF rings often absent

  • WILSONS DISEASE: DIAGNOSISWilsons should be considered in any patient < 30 years of age with acute or chronic liver diseaseBe highly suspicious of Wilsons if:liver disease with neurological or psychiatric disordersacute liver disease with hemolytic anemiaDiagnosis requires at least 2 of the following:KF ringslow ceruloplasmintypical neurologic symptomshepatic copper concentration > 250 mcg/g dry weight

  • Zakim and Boyer, 1996.

  • 32 yo male referred for abnormal liver testsAST= 64, ALT= 85, Alk phos and bili normalHe is healthy and asymptomaticPE- BMI= 28.4, no stigmata of CLDCeruloplasmin 17.5 mg/dl (22.9-43.1)Other tests for chronic liver disease negativeWhat would you recommend?1. Liver biopsy2. Trial of weight loss and repeat liver tests3. Slit lamp exam to look for KF rings4. Check serum free copper level5. Start treatment with D-Penicillamine

  • Modified from Handbook of Liver Disease 1998, Friedman and Keefe, eds.

  • WILSON DISEASE LIVER BIOPSYNecessary in most cases if no K-F rings or neurologic symptomsHistology is nondiagnostic (fat and glycogenated nuclei)Quantitative copper is the gold standard for confirming the diagnosis> 250 mcg/g dry weight diagnostic but not specific< 35 mcg/g dry weight excludes the diagnosis

  • WILSON DISEASE GENEATP7B located on chromosome 13Member of the cation-transporting P-type ATPase subfamily> 200 mutationsMost patients with WD are compound heterozygotesNumber of mutations makes gene less useful for screening

  • 29 yo female referred for a family history of Wilson diseaseHer brother was recently diagnosed with WDShe is healthy and asymptomaticPE normalLiver tests and ceruloplasmin normal What would you recommend?1. Genetic testing for WD2. No additional evaluation3. Liver biopsy with quantitative copper4. Slit lamp exam5. Serum copper level

  • WILSON DISEASE FAMILY SCREENINGConcentrate on siblings (25% risk)Screening tests include liver tests, ceruloplasmin, and slit lamp examBegin at age 5 and repeat every 5 years until age 20Gene test if probands gene status is known and other screening tests are equivocal

  • 25 yo F referred for recently diagnosed WDBrother diagnosed with WD Ceruloplasmin 19.4 mg/dl (22.9-43.1)Liver tests normal, genetic testing confirmed the diagnosisHealthy and asymptomaticPE- K-F rings otherwise normal examShe inquires about the need for treatmentWhat would you recommend?1. Defer treatment until she becomes symptomatic2. Liver biopsy and base treatment on hepatic copper level3. Begin treatment with Trientine4. Begin treatment with Zinc acetate

  • WILSON DISEASE TREATMENTDecoppering AgentsD-penicillamine Start 250-500 mg/d and increase to 1-2 g/d qid20% drug toxicity 20% neurologic deteriorationadminister with pyridoxineTrientine - same dose, similar efficacyfewer side effects

  • WD TREATMENT-2

    Adequacy of therapy assessed by following urinary copper excretionLifelong treatment is necessary and compliance is critical

  • WD OTHER TREATMENTSZinc acetate 50 mg tid inhibits intestinal copper absorptionlimited role in carefully selectedpresymptomatic patientspregnant patients patients on maintenance therapyTetrathiomolybdatecopper chelator promising, not available in the US

  • 43 y.o. man being evaluated for lung tx for alpha-1-antitrypsin deficiency. Hx chronic liver test abnormalities. Drinks 6 beers/d. Used IV drugs 10 years ago. No symptoms except for lung disease. Exam: normal except for lung exam.Lab: ALP 1.5 X ULN, AST 34, ALT 27. Bilirubin, albumin, INR, HBsAg, anti-HCV, iron studies, ceruloplasmin, and ANA all nl. Bx: shown.Which of the following is the most likely cause for the liver test abnormalities.1. Alpha-1 antitrypsin deficiency2. Alcoholic hepatitis3. Hepatitis C 4. Autoimmune hepatitis5. Wilsons disease

  • ALPHA-1 ANTITRYPSIN DEFICIENCYA1AT is serine protease which protects tissue from proteasesPi MM in 95% of the populationPi ZZ phenotype highest risk for liver diseasePi MZ phenotype may occasionally develop liver disease, especially if another cofactor (viral, NASH, EtOH)Liver disease caused by abnormally folded protein accumulating in the ER

  • ALPHA-1 ANTITRYPSIN DEFICIENCY Clinical FeaturesPremature emphysema and liver diseaseNeonatal hepatitis in 15-30% with Pi ZZ phenotypeChronic hepatitisCirrhosis (most common metabolic indication for OLT)Cirrhotics have a greatly increased risk of HCC

  • ALPHA-1 ANTITRYPSIN DEFICIENCY DiagnosisAIAT phenotyping (not level)

    Confirmed by liver biopsy

    PAS-positive diastase resistant globules

  • AGA Clinical Teaching Project: Unit 8.

  • ALPHA-1 ANTITRYPSIN DEFICIENCY TreatmentNo effective medical treatment of liver disease

    Avoid tobacco and alcohol

    AIAT infusions useful in lung disease

    OLT is the only definitive treatment; curative since the recipient assumes the Pi phenotype of the donor

  • TRANSFERRIN RECEPTOR2 (TFR2) HHAutosomal recessive iron overload disorderTFR2 gene on chromosome 7q1Rare (4 Italian,1 Portuguese, 1 Japanese)Protein expressed mainly on hepatocytesAffinity for transferrin 30X less than TfR1Classical HH phenotypeKawabata et al. J Biol Chem 1999

  • JUVENILE HEMOCHROMATOSIS First reported in 1932A rare autosomal recessive disorder characterized by:severe iron overload in early adulthoodcirrhosiscardiomyopathy hypogonadism

  • JH GENEThe gene was recently discovered1Located on chromosome 1Protein hemojuvelin; gene HJV19 patients with JH from 12 families G320V mutation accounted for 2/3 of mutationsUncertain if mutations in HJV influence disease progression in HFE HH

    Papanikolaou et al. Nature Genetics 1/04

    *