Transcript Liver
Liver
MSc Clinical
Biochemistry
Dr Sarah Mapplebeck
Consultant Clinical Biochemist
Lecture structure
Session 1
Liver
structure and function
Liver investigations
Session 2
Liver
cases
Session 1
STRUCTURE AND FUNCTION
Structure of liver
Largest internal organ
Situated in right hypochnodrium
Divided into right and left lobes by middle
hepatic vein
Subdivided into eight segments by
divisions of the right, middle and left
hepatic vein
Blood supply
Blood supply to liver constitutes 25% of resting
cardiac output via two main vessels
Hepatic artery
Branch
of coeliac axis
Supplies 25% of total blood flow
Autoregulation of blood flow by hepatic artery ensure
a constant total liver blood flow
Portal vein
Drains most of the GI tract and
Supplies 75% of blood flow
spleen
Functions of the liver
Metabolic
Protein
metabolism
Carbohydrate metabolism
Lipid metabolism
Formation of bile
Metabolism and excretion of bilirubin
Hormone and drug inactivation
Protein metabolism
Synthesis
Principal site of synthesis of most circulating proteins
Receives amino acids from intestine and muscle and regulates
plasma levels
Plasma contains approx 60-80 g/L (albumin, globulin, fibrinogen)
Transport proteins e.g transferrin, caeruloplasmin produced in
liver
Coagulation factors and complement components
Degradation (nitrogen excretion)
Amino acids degraded by transamination and oxidative
deamination to ammonia
Ammonia converted to urea and is renally excreted
Failure of excretion occurs in severe liver disease
Carbohydrate metabolism
Glucose homeostasis and maintenance of blood sugar
major function of liver
Stores approx 80g glycogen
Immediate fasting state
Blood glucose maintained by glucose released from glycogen
breakdown (glycogenolysis) or by newly synthesized glucose
(gluconeogensis)
Sources for gluconeogensis are lactate, pyruvate, amino acids
from muscle (alanine and glutamine)
Prolonged starvation
Ketone bodies and fatty acids are used as alternative sources of
fuel
Body adapts to lower glucose requirement
Lipid metabolism
Fats transported in plasma as lipoproteins
(protein-lipid complexes)
Liver has major role in metabolism of
lipoproteins
VLDL and HDL synthesised by liver
Triglycerides (come from diet) also synthesised
in liver from circulating free fatty acids and
glycerol
Cholesterol comes from diet but mainly
synthesised in liver from acetyl CoA
Formation of bile
Bile secretion
Bile acid metabolism
Bilirubin metabolism
Bile secretion
Bile consists of water, electrolytes, bile acids,
cholesterol, phospholipids and conjugated bilirubin
Two processed involved in bile acid secretion
Bile salt dependent
Bile salt dependent
Bile salt independent
Uptake of bile acids (and other organic/inorganic ions) across
the basolateral (sinusoidal) by transport proteins – driven by NaK-ATPase in basolateral membrane
Sodium and water follow passage of bile acids
Bile salt independent
Water flow is due to other osmotically active solutes e.g
glutathione, bicarbonate
Bile acid metabolism
Bile acids are synthesised in hepatocytes from
cholesterol
Excreted into the bile and pass into duodenum
Primary bile acids
Cholic
acid and chenodeoxycholic acid are
conjugated with glycine or taurine which increases
their solubility
Secondary bile acids
Primary
bile acids converted by intestinal bacteria into
deoxycholic and lithocholic acid
Bile acids act as detergents – main function lipid
solubilisation
Have both hydrophobic and hydrophilic end and in
aq solution aggregate forming micelles
Bile acid metabolism
Hormone and drug inactivation
Major site for metabolism of drugs and alcohol
Fat soluble drugs are converted to water soluble
substances facilitating excretion in bile or urine
Liver catabolises hormones e.g insulin,
glycogen, oestrogens, growth hormone,
glucocorticoids, parathyroid hormone
Prime target organ for hormones e.g insulin
Bilirubin metabolism
Produced mainly from breakdown of mature red cells in
Kupffer cells of liver and reticuloendothelial cells
15% bilirubin comes from catabolism of other haem
containing proteins (myoglobin, cytochromes, catalases)
Typically 250-300mg bilirubin produced daily
Iron and globulin removed from the haem and reused
Biliverdin is formed from the haem and is reduced to
form bilirubin
Bilirubin produced is unconjugated
Bilirubin metabolism
Uncongugated bilirubin
Not
water soluble
Transported to liver bound to albumin
Dissociates from albumin and taken up by
hepatic cell membrane and transported to ER
In ER is conjugated with glucuronic acid by
bilirubin-uridyl diphosphate (UDP)
Bilirubin metabolism
Conjugated bilirubin
Water
soluble
Secreted into biliary canaliculi reaching small intestine
In gut bilirubin converted into urobilinogen (colorless)
Most urobilinogen oxidised in colon to brown pigment
stercobilin excreted in stool
Some urobilinogen is absorbed from gut into portal
blood and small amount excreted in urine
Bilirubin metabolism
LIVER INVESTIGATIONS
Investigations
Blood tests
Liver function tests
Liver biochemistry
Viral markers
Additional blood investigations; haematological, biochemical,
immunological and genetic
For bilirubin and urobilinogen
Imaging techniques
ALT/AST – reflecting hepatocellular damage
ALP and GGT – reflecting cholestasis
Total protein
Urine tests
Serum albumin
Prothrombin time
To define gross anatomy
Liver biopsy
For histology
Liver function tests
Serum albumin
Marker of synthetic function
Guide to severity of chronic liver disease
Falling serum albumin is poor prognostic sign
In acute liver disease albumin may be normal
Prothrombin time (PTT)
Marker synthetic function
Short half life so sensitive indicator of both acute and chronic
liver disease
Vit K def should be excluded as cause of prolonged PTT
Vit K def commonly occurs in biliary obstruction as low intestinal
concentration of bile salts results in poor absorption of vit K
INR often used as PTT varies in laboratories
Hypoalbuminaemia
Causes of hypoalbuminaemia
Haemodilution
Pregnancy, iv therapy, cirrhosis, antidiuretics
Decreased synthesis
Severe liver disease (chronic hepatitis, cirrhosis)
Malabsorption, malnutrition
Altered distribution
Loss from the body
Skin (burns, exudative lesions)
Gut (protein loosing enteropathy)
Increased catabolism
Liver failure/cirrhosis
Malignancy
Malignancy
Misc
Acute/chronic illness, malignancy
Hyperalbuminaemia
Increased albumin
Dehydration/haemoconcentration
Venous stasis
Healthy young adult
Liver biochemistry
Bilirubin
Aminotransferases
alanine
amino transferase (ALT) and asparate
amino transferase (AST)
Alkaline phosphatase (ALP)
Gamma glutamly transpeptidase
Total protein
Bilirubin and jaundice
Yellow discoloration of tissues due to
bilirubin deposition
Clinical jaundice may not be clear until
plasma bilirubin >50 umol/L
First observed in sclera of the eye
Laboratory investigation of
Jaundice
Classified on basis of other LFTs
Isolated
hyperbilirubinaemia
High serum bilirubin only abnormality
Unconjugated
Conjugated
Hepatobiliary
disease
High bilirubin accompanies other abnormalities in
LFTs
Laboratory investigation of jaundice
Isolated hyperbilirubinaemia
Increased production
Haemolytic
anaemias, hypersplenism, mechanical
heart valves, resorption of haematomas,
Decreased hepatic uptake
Gilbert’s
syndrome
Drugs- Rifampicin, Testosterone, Sulphasalazine
Decreased conjugation
Gilbert’s
syndrome
Gallstones
Further investigation
Bilirubin fractionation
FBC
Haemolytic disease does not always produce low Hb
High retic indicated high red cell production rate seen in
haemolytic disease
Lactate dehydrogenase
Haemolytic disease and pernicious anaemia (megaloblastic
anaemia)
Associated with mild isolated hyperbilirubinaemia
Reticulocytes
Conjugated, unconjugated or mixed hyperbilirubinaemia
Elevated in haemolysis, pernicious anaemia and hepatitis
Haptoglobulin
Bind to haemoglobin released in intravascular haemolysis
causing low levels
Gilberts syndrome
Autosomal dominant (7% population)
Bilirubin between 20 and 60 μmol/L
Decreased conjugation especially during intercurrent
illness or starvation
Elevation <100 umol/L
Measure Conjugated and unconjugated bilirubin
Reflexed in lab on all GP requests when total bilirubin is
over 30 umol/L and no other abnormalities
>75 % unconjugated is consistent with Gilberts
Syndrome
Become jaundiced when unwell or fasting
Reassure that no further tests are required
Cholestatic jaundice
Extrahepatic cholestasis
Due
to large duct obstruction of bile flow at
any point in the biliary tract distal to the bile
canaliculi
Intrahepatic cholestasis
Failure
of bile secretion
Pale stools and dark urine with conjugated
serum bilirubin
Transaminases
ALT and AST are present in hepatocytes and leak into blood with
liver cell damage
Indicate hepatocellular damage
AST
Mainly mitochondrial and also present in heart, muscle, kidney and
brain
High levels seen in hepatic necrosis, MI, muscle injury and CCF
ALT
Cytosol enzyme
More liver specific rise only in liver disease
Released early in liver damage and remain elevated for weeks
In hepatocelluar disease ALT rises before jaundice
Cholestatic disease ALT may not rise
Many labs only measure ALT as more specific than AST
Levels of ALT
Minor elevations (<100 U/L)
Moderate elevations (100-300 U/L)
Chronic hepatitis B and C
Haemochromatosis
Fatty liver
Alcoholic hepatitis
Autoimmune hepatitis
Wilson’s disease
Major elevations (>300 U/L)
Drug toxins e.g. paracetamol
Acute viral hepatitis
Ischaemic liver
Non-hepatic causes of elevated
ALT
Coeliac disease
Muscle disease
Strenuous exercise
Alkaline phosphatase (ALP)
Present in canalicular and sinusoidal
membranes of liver
Present in other tissues
Bone,
intestinal, placenta
Normal situations bone and liver are the major
isoenzymes
If required, origin determined by electrophoretic
separation of isoenzymes
If elevated GGT, ALP can be presumed to come
from liver
Alkaline phosphatase (ALP)
Raised in cholestasis from any cause (intra or
extra hepatic)
Synthesis of ALP is increased and realsed into
blood
Cholestatic jaundice levels may be 4XURL
Raised levels also in conditions with infiltration of
liver e.g metastases and cirrhosis often in
absence of jaundice
Highest levels due to liver disease seen with
hepatic metastases and primary bilary cirrhosis
Isolated mild rise in Alkaline
Phosphatase
Bone disease
Paget’s disease
Osteomalacia
Healing fractures
Metastases
Hyperparathyroidism
Vitamin D deficiency
Drugs
Anti epileptics
Pregnancy
Growth
Children and teenage growth spurt
Biliary disease
Primary biliary cirrhosis (AMA positive)
Other investigations with elevated
ALP
Further investigation may include
Calcium
and phosphate
VitD and PTH
Liver enzymes
PSA
Electrophoresis
Isoenzymes
Radiology
GGT
Microsomal enzyme present in many tissues as
well as liver
Activity can be induced by drugs e.g phenytoin
and alcohol
If ALP normal a raised GGT good guide to
alcohol intake
Mild elevations in GGT is common even with
small alcohol consumption and doesn’t mean
liver damage if other liver biochemistry normal
In cholestasis GGT rises in parallel with ALP
Isolated rise in Gamma GT
Only measure to clarify raised alkaline
phosphatase or DVLA fitness to drive
Alcohol (although not always)
Drugs
Anticonvulsants,
NSAIDs, antibiotics, antifungals,
cytotoxics, testosterone
Non alcoholic fatty liver
Congestive cardiac failure
Afro-Caribbeans have higher reference range
Main use to identify source of ALP cheaper the
ALP isoenzymes
Other liver function tests
Total proteins
Measurement
alone is of little value
Globulin fraction calculated
Elevated globulin fraction is liver disease is usually
polyclonal due to increased circulating immunoglobins
(rather than monoclonal in myeloma)
Viral markers
Viruses
are major cause of liver diease
Virology investigations are often key in diagnosis e.g.
hepatitis
Additional blood investigations Biochemical
Alpha1 antitrypsin
Deficiency
can produce cirrhosis
Alpha fetoprotein
Normally produced by fetal liver
Reappearance in high conc indicates
carcinoma
Serum and urine copper
Wilsons
disease
hepatocellular
Additional blood investigations Immunoglobulins
Increased serum immunoglobulins
Due
to reduced phagocytosis by sinusoidal and
Kupffer cells of antigen from the gut
Antigens then stimulate antibody production
Immunoglobulins (not produced by liver)
Polyclonal
elevations in chronic liver disease
IgM elevated in primary biliary cirrhosis (PBC)
IgA elevated in alcoholic liver disease
IgG increased in autoimmune liver disease
Additional blood investigations Autoantibodies
Anti mitochondrial Antibodies (AMA)
Found
in serum in >95% patients primary
biliary cirrhosis
Nucleic, smooth muscle, liver/kidney
microsomal antibodies
High
titre in autoimmune hepatitis
Also in other autoimmune conditions e.g. SLE
and liver disease
Other tests
Genetic analysis
HFE in haemochromatosis
Copper transporting ATPast in Wilsons disease
Urine tests
Bilirubin not found in urine in health
Bilirubinuria is due to presence of conjugated (soluble) bilirubin
Found in jaundiced patient with hepatobilary disease
Absence implies that jaundice is due to increased unconjuated
bilirubin
Urobilinogen
Little value but suggests haemolysis or hepatic dysfunction of any
cause
Imaging techniques
Ultrasound (USS)
Computed tomography (CT)
Magnetic resonance imaging (MRI)
Plain X ray of abdomen
Endoscopy
Liver biopsy
Histological examination of liver used in the differential
diagnosis of diffuse or localised parenchymal disease
Can be done day case
Mortality rate <0.02% in good hands
Guided by US or CT when specific lesions need to be
biopsied
Minor complications
Usually in first 2hrs
Abdominal or shoulder pain
Minor bleeding
Major complications
Major bleeding
Sepsis
Symptoms of liver disease
Acute liver disease
May be asymptomatic
Symptomatic (usually viral) produces generalised symptoms of
malaise, anorexia ad fever
Jaundice as illness progresses
Chronic liver disease
May be asymptomatic or complain of non specific symptoms esp
fatigue
Specific symptoms include
Right hypochondrial pain due to liver distension
Abdominal distension due to ascites
Ankle swelling due to fluid retention
Haematemesis and melaenia due to GI haemorrhage
Ithcing due to cholestasis
Gynaecomastia, loss libido and amenorrhoea due to endocrine
dysfunction
Signs of liver disease
Acute liver disease
Few signs apart from jaundice and enlarged liver
Cholestatic phase
Pale stools and dark urine
Spider naevi and liver palms may occur
Chronic liver disease
May be normal in advanced disease
Skin
Abdomen
Chest and upper body may show spider naevi
Hands show palmar erythema
Xanthomas
Hepatomegaly will be followed by small liver in well-established cirrhosis
Splenomegaly seen in portal hypertension
Endocrine system
Gynaecomastia and testicular atrophy
Signs of liver disease
Session 2
LIVER CASES
Case 1
AW (1)
Age 48 male
Hairdresser
Painful joints
Exhaustion
Low libido
AW (2)
On examination
pigmented
ALT 167, ALP 175, GGT 147
Alb 43, BR 7
USS = hepatosplenomgaly. No varices
AW (3)
Viral studies negative
Auto-antibodies negative
α1-AT normal
TSH 1.05
AW (4)
Ferritin 5740 (rpt 6540)
Testosterone 1.1 (n>10)
Fasting Glu 9.7
Cortisol 612; prolactin 144; LH 3; FSH 3
IGF1 53 (n94-252); GH 0.12
Homozygous for C282Y
Rx venesection, testogel
liver biopsy (Jan 2009) = cirrhosis
Iron Overload Syndromes
Primary overload
Secondary overload
Others
Iron
loading due to liver disease
Normal Iron Homeostasis in Humans
Pietrangelo A. N Engl J Med 2004;350:2383-2397
Hereditary Haemochromatosis
Type 1
Type 2a
Type 2b
Type 3
Type 4
Classical HFE
Juvenile HH (Hemojuvelin)
Juvenile HH (Hepcidin)
TfR2 mutations
Ferroportin
HFE related
Haemochromatosis
C282Y mutation in HFE gene
Autosomal recessive
Mechanism complex/unclear
Excess duodenal iron absorption leads to
deposition in specific organs
Frequency of HH
1 in 5000 ‘bronze diabetes”
1 in 200 N Europeans homozygous
C282Y
1 in 9 carriers for C282Y
Commonest autosomal genetic disorder
in caucasians ???
Haemochromatosis (3)
Often middle age
More males
80% fatigue
56% abdo pain
45% arthralgia (2nd + 3rd metacarpals)
37% loss of libido
Complications of HH
Diabetes
Joint symptoms
Cardiac disease
Skin pigmentation
Impotence
Sites of iron deposition
Skin
Liver
Pancreas
Endocrine (ant pit, rarely thyroid, adrenal)
Myocardium
HFE-Related Hereditary Hemochromatosis, a Multistep, Multifactorial Iron-Overload Disorder
Pietrangelo A. N Engl J Med 2004;350:2383-2397
How to diagnose?
Detection of HH
Transferrin saturation (>45%)
Ferritin (?)
HFE genotype
C282Y
homozygote
C282Y + H63D (4%)
(Liver biopsy)
(MRI)
How to treat?
Therapeutic Venesection
Aim for ferritin 50-100 (satn<30%)
Weekly to fortnightly
Improves
fatigue
LFTs
diabetic
control
arthropathy
If fit can go to blood donation once ferritin
down
Endoscopy
Unit
Who to biopsy?
HH with ferritin >1000
40%
risk of cirrhosis
HH with ferritin <1000
cirrhosis
very unlikely
Further Management
Rx diabetes
Testogel etc
Bone density
FU for cirrhosis
Family screening
Learning Points
HH is common
HH is usually easy to diagnose
HH is easy to treat
Early treatment prevents “disease”
Think: iron overload
Case 2
3rd July
47
year old female
Called ambulance 26 hours after
taking a paracetamol overdose
Seen at 22:00
The patient (1)
Suffers from depression due to physical
pain and death of mum in 2008
Took overdose of approx. 50g
paracetamol (100 tablets) at approx. 20:00
on 2nd July 08
Taken on empty stomach
The patient (2)
Started vomiting at 23:00 which made her
regret her actions
Started feeling cold and sweaty at 18:00
on 3rd July 08
Impulsive O/D following an argument with
son
No further suicidal thoughts or plans
Initial assessment, 3rd July
No suspicion of alcohol or illicit drugs
Airway clear and respiratory rate 20/min
(normal: <8-25/min)Temperature of 36.7oC
Bp: 154/112 (normal: 127/85)
Heart rate: 116 (normal: 54-83)
Glasgow coma score (15/15) Alert
Quite nervous
Other conditions in patient
Osteoarthritis
Fibromyalgia
Rheumatoid arthritis
Depression
Past drug history
Pain killers
Fentanyl Transdermal Patches
Naproxen E/c
Tramadol m/r
Paracetamol 500mgs (8 per day)
Antidepressants
Amitriptyline
Sertraline
Arthritis drugs
Alendronic Acid
Calcichew-D3
Folic Acid
Hydroxylchloroquine Sulphate
Prednisolone E/c
Paracetamol poisoning
<24h
Anorexia,
nausea and vomiting
24 – 48h
Abdominal
pain, hepatic tenderness, prolonged PT,
elevated plasma aminotransferases and bilirubin
>48h
Jaundice,
encephalopathy, renal and hepatic failure
Paracetamol poisoning
No immediate effect after O/D
The PT is the best marker of severity
The likelihood of a liver damage can be
predicted from the plasma concentration of
paracetamol, which also helps with the
determination of appropriate decisions for
antidotal therapy
ALT indicates severity of overdose
Treatment options
Antidote of choice is N-acetylcysteine
(intravenous)
Methionine (oral)
5% dextrose (for hydration)
Liver transplantation may be appropriate in
the most severe cases
Patient
Investigations
Liver function tests
Total
protein
Albumin
Bilirubin
ALT (Aminotransferase)
ALP (Alkaline Phosphatase)
Clotting screen
INR
(International Normalised Ratio)
Patient results 3rd July
BLOOD COUNT
Haemoglobin
15.1 g/dl
White cell count 13.6 109/L
Platelet count
386 109/L
(normal value)
12 – 16
3.9 – 11.1
150 – 450
LFT (liver function test)
TP (total protein) 85 g/L
Albumin
44 g/L
ALP
78 u/L
Total bilirubin
29 umol/L
ALT
3533 u/L
60 – 80
35 – 50
30 – 130
0 – 20
5 - 65
FULL CLOTTING SCREEN
PT
15.1 secs
INR
1.3
APTT
29.5 secs
10.2 – 13.3
0.8 – 1.2
27.8 – 36.3
PARACETAMOL
paracetamol
30
mg/L
Treatment
DATE
INFUSION
FLUID
VOLUME
DRUG
DOSE
DURATION
3/7/08
5%
DEXTROSE
200ml
N-acetylcysteine 20000mg 15mins
3/7/08
5%
DEXTROSE
500ml
N-acetylcysteine 6000mg
3/7/08
5%
DEXTROSE
1000ml
N-acetylcysteine 13000mg 16hourly
5/7/08
5%
DEXTROSE
1000ml
N-acetylcysteine 11g
16hourly
5/7/08
5%
DEXTROSE
1L
N-acetylcysteine 11g
16hourly
4hourly
N-acetylcysteine
Paracetamol is metabolised in the liver, mainly
by conjugation with glucuronide and sulphate to
form a reactive, potentially toxic, metabolite
In paracetamol overdose, the glucuronide and
sulphate conjugation pathways are saturated, so
that more of the toxic metabolite N-acetyl-pbenzoquinoneimine (NAPQI)is formed
N-acetylcysteine
Acetylcysteine protects the liver from
damage by restoring depleted hepaticreduced glutathione levels, or by acting as
an alternative substrate for conjugation
with, and thus detoxification of, the toxic
paracetamol metabolite.
Results 6th July
BLOOD COUNT
Haemoglobin
13.4 g/dl
White cell count 9.9 109/L
Platelet count
386 109/L
(normal value)
12 – 16
3.9 – 11.1
150 – 450
LFT (liver function test)
TP (total protein) 72 g/L
Albumin
38 g/L
ALP
62 u/L
Total bilirubin
12 umol/L
ALT
1472 u/L
60 – 80
35 – 50
30 – 130
0 – 20
5 - 65
FULL CLOTTING SCREEN
PT
14.7 secs
INR
1.2
APTT
27.0 secs
10.2 – 13.3
0.8 – 1.2
27.8 – 36.3
PARACETAMOL
paracetamol
<10 mg/L
ALT Results
Results
INR Results
Results
Outcome
Reviewed by psychiatrist
Medically fit for discharge (after review of
anti-depressant therapy)
Referral for bereavement counselling
Discharged
Thoughts of taking O/D again
Finally
She had a lucky escape
Paracetamol poisoning is a very slow and
agonizing process of death
Case 3
SW Female Age 69
Retired secretary
November 2009 short of breath for 3-4
weeks on exertion (step aerobics, dog
walking)
Hb 10.2
No recent loss of weight, blood loss,
melaena or altered bowel habit
Microcytic anaemia
Results from GP 12/11/09
Hb
WBC
Platelets
MCV
Ferritin
8.2
5.9
213
99.4
95
Referred by GP to A&E
Na
K
Urea
Creat
TP
Alb
Glob
Alk phos
Bilirubin
ALT
140
Haemolysed
11.1
152
69
44
25
47
67
Haemolysed
A&E results 12/11/09
16:28 hours,
jaundiced anaemic
dehydrated
Hb
8.0
WBC
5.9
Platelets 213
Na
K
Urea
Creat
Bili
ALT
What tests would you do now?
137
Haemolysed
11.4
165
68
Haemolysed
Results over next few days
Date
9.12
9.12
10.12
12.12
14.12
15.12
16.12
Hb
8.0
8.0
7.6
7.4
7.2
8.9
9.1
K
H
H
H
H
H
H
H
Urea
11.3
11.4
10.0
7.7
8.0
7.7
7.1
Creat
163
165
143
129
123
125
131
Bili
67
68
61
39
50
49
36
ALT
H
H
H
H
H
H
H
What do you make of these? What other tests would you do?
Clinical History
Hypothyroidism
Hysterectomy
Psoriasis
Mitral valve replaced 1988 and 1994
Aortic valve replaced 1994
Hypertension
Left hip and right knee replaced due to OA Perforated
peptic ulcer
Drug therapy
Thyroxine
125 ug
Candesartan 8mg OD
Warfarin
5mg/ 4mg
Other results
Conjugated/ unconjugated bilirubin
Haemolysed
LDH
5450 IU/L
Haptoglobin <0.3 g/l
B12
282
Folate
Haemolysed
Ferritin
277
Serum appearance noted by Biochemistry
Other results
Reticulocyte count
Blood film
Direct Coombes test
Hep B/ Hep C
ANA, ANCA
15.5 %
Negative
Negative
Haemolysed
Blood film
Red cell fragments and polychromasia
with occasional nucleolated red cells
Burr cells
Acanthocytes
Schistocytes
Consistent with mechanical haemolysis
from prosthetic heart valves
Additional tests
•Direct Coombe’s test
Haptoglobin
Protein which binds to free
haemoglobin in the blood
Acute phase protein
Complex removed by spleen
Low result indicates
intravascular haemolysis
Methaemalbumin
Haemoglobin is converted to
Haematin which is then
bound to albumin-brown
pigment
Further course
Another 20 U&Es done with no potassium
available due to haemolysis
Transfused
ECHO showed para prosthetic mitral
regurgitation from 20% of surface. Referred to
Essex CTC for mitral valve replacement then to
UCLH
In May vegetation on valve so not operated on
RIP May 2010
Haemolytic anaemia
Due to breakdown of red blood cells (normally 1% break
down each day, removed by spleen)
Intravacular
Extravascular
Inherited or acquired
Lab tests required
Haemoglobinopathy screen if indicated
Film and direct Coombe’s test, reticulocyte count
Conjugated bilirubin, LDH and haptoglobin
Treatment depends on the cause
Transfusion
Steroids or Rituximab
Bone marrow transplant
Splenectomy
Avoiding triggers
Inherited causes
Defects in Hb production
Thalassaemia
Sickle cell
Haemoglobinopathies
Defects in red cell membranes
Hereditary
Hereditary
spherocytosis
ellipsoidosis
Defects in red cell metabolism
G-6-PD
deficiency
Pyruvate kinase deficiency
Paroxysmal nocturnal haemoglobinuria
Acquired haemolytic anaemia
Immune mediated causes
AIHA or CHAD
Hypersplenism
Aquired
Burns, infections
Toxins
Lead, fava beans
Drugs
Penicillin, anaesthetics, antimalarials, Dapsone in
succeptible patients,
Transfusion reaction/ rhesus incompatability
Physical destruction
mechanical heart valves, heart-lung machines
Footstrike haemolysis
Mechanical heart valves
Mitral valve
Mechanical
Stented or open surgery
Last indefinitely
Lifelong treatment with
anticoagulants
Damage red cells
Biological
Allograph or xenograph
(pigs)
Only last 15 years
No anticoagulation required
Do not damage red cells