Case presentations genes and liver disease
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Case Presentations : Genes and Liver Disease. Victor Ankoma-Sey, MD Director , Liver Transplant Program, Houston Methodist Hospital Director , Liver Associates of Texas, PA. Case # 1. 28YOWF presents with jaundice x 1 week and lethargy PMH: No prior liver disease PSH:Nil

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Case Presentations : Genes and Liver Disease

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Case presentations genes and liver disease

Case Presentations:Genesand LiverDisease

Victor Ankoma-Sey, MD

Director, Liver Transplant Program, Houston MethodistHospital

Director, Liver Associates of Texas, PA


Case 1

Case # 1

  • 28YOWF presents with jaundice x 1 week and lethargy

  • PMH: No prior liver disease

  • PSH:Nil

  • Meds: Multivitamin

  • FH: Mother has hypothyroidism

  • SH: no etoh, no illicit drugs, nonsmoker, single


Case 11

Case # 1

  • P/E: VSS

  • HEENT:Sclera- icteric, Conj: pallor+

  • Chest: Clear

  • COR : nl

  • Abdo: nl

  • Ext: no pedal edema

  • Neuro: Lethargic , Nonfocal, Asterixis +


Case 12

Case # 1


What is the diagnosis

What is the Diagnosis?

  • A. Acetaminophen (Tylenol) Hepatotoxicity

  • B. Autoimmune Hepatitis

  • C. Acute Hemolytic Crises with Fulminant Liver Failure in Wilson’s Disease

  • D. Mushroom poisoning

  • E. Heatstroke

4


What is the next step in mx

What is the next Step in Mx ?

  • Start urgent D-Penicillamine treatment

  • Transfer to Transplant ICU: emergent evaluation for liver transplantation

  • Start plasmapheresisas an outpatient

  • Begin Trientine immediately

  • Initiate IV Acetylcysteine (Mucomyst)

1


Acute hemolytic crises with fulminant liver failure in wilson s disease

Acute Hemolytic Crises with Fulminant Liver Failure in Wilson’s Disease

  • Rare presentation of Wilson’s disease

  • Prompt liver transplantation is crucial to survival

  • Low alkaline phosphatase and uric acid : are clues

  • Coomb’s Negative Hemolytic anemia and liver failure: a diagnostic pointer


Case 2

Case # 2

  • A 40 yr Male is brought to ER with hypotension, N/V and diarrhea

  • PMH: DM, Arthritis

  • Meds: Metformin, Motrin

  • FH: Father: CHF and DM

  • SH: Drinks 4-6 beers/day + 3 martinis x many years, mechanic , married. No illicit drugs or smoking h/o.

    Lives in Galveston, TX

  • ROS: Ate raw oysters 2 days prior to admission


Case 21

Case #2

  • P/E BP : 80/40 P:120/min T-102F, RR:22Heent: Sclera- icteric, Conj -pink

  • Chest: Clear

  • COR: RRR

  • Abdo: hepatomegaly+

  • Ext: pedal edema-

  • Skin: bullous skin lesions-purpuric, nonblanching. Tanned skin

  • Neuro: A & O x3, Nonfocal


Case 22

Case # 2


What is the most likely diagnosis

What is the most likely diagnosis ?

  • Acute Alcoholic hepatitis

  • Acetaminophen Hepatoxicity

  • Acute Hepatitis A

  • Vibrio VulnificusInfection in a Hemochromatosis patient with active etoh use

  • Malingering

1


Case 3 what is his prognosis

Case # 3What is his prognosis ?

  • Excellent

  • Guarded

1


Vibrio vulnificus

Vibrio vulnificus

  • V.vulnificus is concentrated in ocean filter feeders: oysters and clams

  • Primary Sepsis/septicemia: Acquired from ingestion of raw shellfish

  • Wound Infection: rapidly progressive , associated with exposure to estuarine waters

  • Growth of the bacterium is exponential when Fe saturation is > 70%


Vibrio vulnificus primary sepsis risk factors

Vibrio vulnificusPrimary SepsisRisk Factors

  • Hereditary Hemochromatosis: 12% of patients

  • Alcoholic cirrhosis: 31-43% of patients

  • Underlying liver diseases including cirrhosis and chronic hepatitis : 24-31% of patients

  • Alcohol abuse without documented liver disease: 12-27% of patients

  • Chronic diseases: DM, RA, thalasemmia major, Chr renal failure and lymphoma: 7-8% of patients


Vibrio vulnificus primary sepsis

Vibrio vulnificusPrimary Sepsis

  • 1/3 present in shock or become hypotensive within 12 hrs of admission

  • Thrombocytopenia and DIC is common

  • A serious illness:-Among all reported foodborne infections in the US, it is associated with highest case fatality rate (39%)-Case fatality rate > 90% when hypotensive at presentation


Case 3

Case #3

  • 58 y/o Caucasian female referred for > 3 year h/o elevated liver enzymes

  • C/O fatigue, RUQ abdo pain

  • Past Medical History

    • Obesity (BMI:40), DM, hyperlipidemia, HTN, back pain, arthritis, depression

  • No alcohol history

  • FH: Mother died from cirrhosis/NAFLD

  • Meds:

    • Lipitor, Motrin, Effexor, Norvasc , Metformin


Case 31

Case #3

  • Laboratory

    • ALT:72

    • AST:55

    • ALk Phos:115

    • Albumin:4.0

    • Platelets: 160,000

    • INR:1.1

    • Fasting insulin:30

    • Fasting glucose:100

  • HBV, HCV: negative

  • Fasting iron panel: normal

  • ANA :80

  • ASMA, AMA: negative

  • TSH: 0.8

  • Celiac Panel: -

  • A1AT level: normal


Case 32

Case #3


What are your initial recommendations

What are your initial Recommendations

  • A. Dietary modifications

  • B. Exercise

  • C. Cognitive behavior therapy

  • D. Control DM, Rx Hyperlipidemia

  • E. All of above

1


Which test will help determine her prognosis in the long term

Which test will help determine her prognosis in the long term?

  • CT Scan Liver Protocol

  • Ultrasound

  • Liver Biopsy

  • Serial fasting Insulin Level

  • Waist circumference

1


Case presentations genes and liver disease

NAFLD

STEATOSIS

STEATOHEPATITIS

Alone or non-specific inflammation

Hepatic cell injury + Inflammation

balloning


Nafld at risk for advanced disease

NAFLD: At risk for advanced disease

  • Age > 50 years

  • Diabetes mellitus-Type II

  • Metabolic Syndrome

  • Obesity (BMI > 30) ?

  • AST or ALT > 2X ULN

  • Dorsocervical fat pad


Nafld

NAFLD

  • Prevalence increasing

  • Distinction between simple fatty liver and NASH with moderate to advanced fibrosis is important

  • Non-invasive testing may assist in triaging patients for liver biopsy

  • Therapeutic options remain focused on improving insulin resistance

    • Heart healthy, low processed carbohydrate diet to produce deficit of 500-1000 cal/day

    • Exercise, as adjunct to diet, focusing on aerobic activity for 30 minutes/day


Nash pharmacologic options

NASH - Pharmacologic options

  • Most evidence-based data : glitazones

  • Glitazones improve : certainly steatosis and ALT, inflammation and liver cell injury but not fibrosis

  • The relationship between hepatic and metabolic improvement need to be better understood

  • Hepatoprotectants need to be developed

  • Phase II studies with biochemical end-points are needed

  • Individualized therapy and integrative approaches with diet and lifestyle modifications need to be optimized


Question key

Question Key

  • The key to my questions are as follows:

  • A. Case #1:

  • Ques 1What is Diagnosis? Ans: C

  • Ques2: Next step.. Ans: B

  • B. Case #2

  • Ques1: Most likely .. Ans:D

  • Ques2: Prognosis..Ans:B

  • C. Case #3

  • Ques 1..Recs.. Ans: E

  • Ques 2.. Prognosis: C


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