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
• Meds: Multivitamin
• FH: Mother has hypothyroidism
• SH: no etoh, no illicit drugs, nonsmoker, single
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 # 1
Bilirubin (total) mg/dL
22.4
Bilirubin (Direct)
mg/dL
ALT IU/l
6.6
AST IU/l
Alk Phos IU/l
Creatinine mg/dL
Protein g/dL
Albuming/dL
Retic Count
LDH IU/l
Direct Coomb’s(DAT)
16
97
24
0.6
5.6
2.8
12.6%
766
-
WBC
Hemoglobin
3.8
7.4
Platelets
INR
109,000
3.1
HAV Ab
HBsAg
-
HCV Ab
ANA/ASMAb
-/-
What is the Diagnosis?
A. A. Acetaminophen
(Tylenol) Hepatotoxicity
B. B. Autoimmune Hepatitis
C. C. Acute Hemolytic Crises
with Fulminant Liver
Failure in Wilson’s Disease
D. D. Mushroom poisoning
E. E. Heatstroke
67%
17%
A.
17%
B.
C.
0%
0%
D.
E.
What is the next Step in Mx ?
A. Start urgent D-Penicillamine
treatment
B. Transfer to Transplant ICU:
emergent evaluation for liver
transplantation
C. Start plasmapheresis as an
outpatient
D. Begin Trientine immediately
E. Initiate IV Acetylcysteine
(Mucomyst)
28%
28%
25%
18%
3%
A.
B.
C.
D.
E.
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
• 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 #2
• P/E BP : 80/40 P:120/min T-102F, RR:22
Heent: 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 # 2
Bilirubin (total)
Bilirubin (Direct)
ALT
3.5
2.5
112
WBC
Hemoglobin
AST
Alk Phos
Glucose
228
156
114
Platelets
INR
109,000
1.4
HAV Ab
-
Protein
Albumin
% Fe saturation
6.1
3.2
93%
HBsAg
HCV Ab
ANA/ASMAb
Ferritin
3.1
9.9
-/1500
What is the most likely diagnosis ?
A.
B.
C.
D.
Acute Alcoholic hepatitis
Acetaminophen Hepatoxicity
Acute Hepatitis A
Vibrio Vulnificus Infection in
a Hemochromatosis patient
with active etoh use
E. Malingering
70%
16%
13%
2%
A.
B.
0%
C.
D.
E.
Case # 3
What is his prognosis ?
88%
A. Excellent
B. Guarded
12%
A.
B.
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
• 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
• 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
• 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
16
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
17
Case #3
18
What are your initial
Recommendations
A. A. Dietary modifications
B. B. Exercise
C. C. Cognitive behavior
therapy
D. D. Control DM, Rx
Hyperlipidemia
E. E. All of above
93%
0%
A.
0%
B.
4%
C.
4%
D.
E.
Which test will help determine her
prognosis in the long term?
A. CT Scan Liver
Protocol
B. Ultrasound
C. Liver Biopsy
D. Serial fasting Insulin
Level
E. Waist circumference
55%
25%
10%
8%
3%
A.
B.
C.
D.
E.
NAFLD
STEATOSIS
Alone or non-specific inflammation
STEATOHEPATITIS
Hepatic cell injury + Inflammation
balloning
NAFLD: At risk for advanced disease
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•
•
•
•
•
Age > 50 years
Diabetes mellitus-Type II
Metabolic Syndrome
Obesity (BMI > 30) ?
AST or ALT > 2X ULN
Dorsocervical fat pad
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
23
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
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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