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SOE 243: Thrombotic Thrombocytopenic Purpura (TTP)

Introduction

A 36-year-old presents to hospital with a 2-week history of fever and feeling generally unwell. Initial blood tests show a platelet count of 28 x 109/L. The admitting consultant suspects TTP…

Question No. 2

Q: What is thrombotic thrombocytopenic purpura (TTP)?

Answer No. 2

  • Thrombotic thrombocytopenic purpura (TTP) is a rare thrombotic microangiopathy resulting in a consumptive thrombocytopenia, haemolytic anaemia and ischaemic end-organ damage
  • It occurs due to a deficiency in the activity of a specific von Willebrand factor cleaving protein (vWF-CF) known as ADAMTS13
  • It is an intensive care and haematological emergency 

Question No. 3

Q: How common is TTP?

Answer No. 3

  • TTP is a rare condition:
    • Prevalence is only 10-15 per 1,000,0000
    • Low incidence hinders the development of strong evidence base
  • Has a female preponderance with a ratio of 2:1
  • Peak incidence is in adulthood before the age of 50

Question No. 4

Q: What is the prognosis of patients with TTP?

Answer No. 4

  • Untreated the mortality is 90%
  • The current mortality in the UK (from the TTP register) is 10-20%)
    • Has significantly decreased since the introduction of early PEX
    • Most deaths from cardiac and neurological complications
  • Relapse rate is 30-50%

Question No. 5

Q: Which factors are associated with worse outcomes in TTP?

Answer No. 5

  • Age >60

  • Elevated troponin

  • CNS involvement

  • Delayed diagnosis

  • Use of platelet transfusion

  • Elevated LDH

  • Refractory disease unresponsive to PLEX

  • Episodes of relapse

  • African or Caribbean ethnicity

Question No. 6

Q: What is the pathophysiology of TTP?

Answer No. 6

  1. vWF is a large glycoprotein present in the plasma whose functions include binding factor VIII, and activating and binding platelets in response to endothelial injury.
  2. It is produced in the endothelium as ultra-large multimers that are inactivated when cleaved by Von-Willebrand factor-cleaving protease (vWF-CP), also known as ADAMTS13 (A Disintegrin And Metalloprotease with a ThromboSpondin type 1 motif, member 13
  1. The pathological hallmark in TTP is a deficiency of von Willebrand factor-cleaving protease (vWF-CP) or ADAMTS13. This may be genetic (absence of enzyme) or acquired (presence of autoantibody to vWF-CP).
  2. In TTP, these multimers are not cleaved resulting in ultra-large multimers
  3. The VWF multimers bind to platelets and result in uncontrolled platelet activation. Fibrin is deposited and thrombus propagated
  4. The end result is ischaemia distally, and red cells are shredded as they pass the fibrin/platelet mesh (microangiopathic haemolytic anaemia, MAHA).

Question No. 7

Q: What are the causes of TTP?

Answer No. 7

Primary
  • Congenital (5%) - typically present in late infancy or childhood
  • Acquired idiopathic (autoimmune)
Secondary

(To a known Trigger)

  • Infection:
    • HIV
    • CMV
    • HBV / HCV
  • Pregnancy
  • Bone marrow transplant
  • Drugs:
    • COCP and hormonal treatments
    • Quinine
    • Interferon and immunosuppressants
    • Simvastatin
    • Antiplatelets
  • Malignancy
  • Acute pancreatitis

Question No. 8

Q: How does TTP present?

Answer No. 8

  • TTP is said to present with a classic pentad of features:
    • However, not all features are required to be present to make a diagnosis
    • Additional features are also commonly seen in TTP
  • Patients report feeling unwell for several weeks before presenting:
    • Usually, experience flu-like symptoms
    • Relapses present much quicker
Classic 'Diagnostic' Pentad
  • Microangiopathic haemolytic anaemia
  • Thrombocytopaenia - often initial diagnostic feature
  • Acute kidney injury (35%)
  • Fever (25%)
  • Neurological dysfunction (80%) - Altered mental state, headaches, confusion, seizures, intracranial haemorrhage, focal deficits
Additional Features
  • Cardiac dysfunction (40%) - elevated troponin, large territory ECG changes not common as microvascular involvement
  • GI dysfunction (35%)
  • Flu-like symptoms - often experienced for several weeks before presentation

Question No. 9

Q: What are the laboratory features of TTP?

Answer No. 9

  • Features of MAHA:
    • Anaemia on FBC
    • Blood film: low platelets, schistocytes, polychromasia
    • Increased reticulocytes, bilirubin and LDH
    • Negative DAT Coomb's test
  • Marked thrombocytopenia
  • Decreased ADAMTS13 activity
    • Anti-ADAMTS13 IgG may be identified

Question No. 10

Q: What are the features of severe disease?

Answer No. 10

Severe disease is complicated by organ failure:

Neurological
  • Seizures
  • Paralysis
  • Ischaemic Changes
  • Cerebral Bleeding
  • Coma
Renal
  • Renal Failure
Cardiovascular
  • Acute myocardial infarction
  • Arrhythmias
  • Heart failure
  • Cardiogenic shock
Other organs
  • Pancreatitis
  • GI Bleeding
  • Mesenteric Ischaemia

Question No. 11

Q: What are the differential diagnoses for TTP?

Answer No. 11

Disease
Pathophysiology
Differentiating Features
Other Thrombotic Microangiopathies
Other Thrombotic Microangiopathies
Other Thrombotic Microangiopathies
DIC
Inflammatory mediated consumptive coagulopathy
  • History of infection, malignancy or predisposing factors
  • Low fibrinogen
  • Schistocytes may be absent
HELLP
Inflammatory mediated consumptive coagulopathy
  • Hypertension and proteinuria always present
  • Seizures prominent
  • LFTs usually elevated
  • Schistocytes may be absent
Other
Other
Other
ITP
Immune mediated platelet destruction
  • Clinically well
HIT
Immune mediated platelet destruction
  • History of heparin exposure
  • No evidence of haemolytic anaemia
  • Large vessel thrombosis may be present
  • Anti-PF4 antibodies may be identified
Heart Valve Haemolysis
Mechanical fragmentation of red blood cells with consumption of platelets
  • History of mechanical heart valve
  • Heart valve defect on echocardiography
Evan's Syndrome
Immune thrombocytopenia with Coombs positive autoimmune haemolysis
  • Schistocytes absent
  • Positive Coombs test
Endocarditis
Likely combination of mechanical fragmentation and consumptive coagulopathy
  • Vegetations on echocardiography
  • Positive blood cultures
Catastrophic anti-phospholipid syndrome
Arterial and venous thrombi with secondary endothelial damage
  • Prolonged aPTT
  • Positive cardiolipin antibody

Question No. 12

Q: How do you differentiate TTP and haemolytic uraemic syndrome (HUS)?

Answer No. 12

  • Can be difficult as share similar clinical and pathophysiological features
  • Differentiating clinical features include:
    • ↑ presence of focal neurological symptoms in TTP
    • ↑ presence of renal failure in HUS
  • Typical HUS:
    • Associated with exposure to shiga toxin - may be preceded by history of bloody diarrhoea
    • Commonly presents in children <5
    • Is associated with a higher platelet count than TTP (usually >35 x 109/L

Question No. 13

Q: How is TTP Diagnosed?

Answer No. 13

  • The hallmark of TTP is absence of ADAMTS13 activity
  • A level <5–10% is now required to confirm the diagnosis

Question No. 14

Q: How can ADAMTS13 activity deficiency be detected?

Answer No. 14

  • ADAMTS13 activity is tested using specialist functional assays which are conducted at reference centres:
    • Principle involves degradation of vWF substrate (either full length or small peptides)
    • The value is expressed as a % compared against activity from normal pooled plasma which is considered as 100%

Question No. 15

Q: What is the management of TTP?

Answer No. 15

Key Principles

  • Early resuscitation and supportive care
  • Urgent and rapid treatment or transfer to specialist centre (Treat as urgent as aneurysm)
  • Avoidance of platelet transfusion
  • Early plasma exchange with FFP
  • Immunosuppressive therapy
  • Therapy to reduce thrombosis
Initial Resuscitation & Supportive Care
  • ABC approach treating abnormalities as found:
    • 100% oxygen whilst assessing
    • Obtain IV access and perform diagnostic work-up
    • Consider early central line and vascath for plasma exchange
  • May need intubation if significant neurological sequalae
  • Management of seizures using benzodiazepines
  • Monitor urine output and consider RRT if evidence of
  • IV PPI for patients whilst on high dose steroids
  • For management of haemolysis:
    • Transfuse to target of 70g/dL
    • Commence oral folic acid 5mg OD
Specific Management
  • Platelet transfusions contraindicated unless Major haemorrhage:
    • Worsens thrombosis
    • Usually prothrombotic - lines can be performed without
  • Plasma exchange - Mainstay of treatment:
    • Removes the autoantibodies from the patient's circulation, and replaces their plasma with plasma containing normal levels of vWF-CP
    • Ideally instigated within 3-4 hours of diagnosis
    • Using Octaplas (solvent-detergent prepared FFP deficient in ultra-large multimeric vWF)
    • Daily PEx should continue for at least 2 days after platelet recovery (i.e. pits >150 x 109/L)
  • FFP may be given has holding measure whilst awaiting transfer:
    • Not replacement for PLEX
    • Dose 15ml/Kg
  • Immunomodulatory therapy
    • IV Methylprednisolone 1g for 3 days immediately after PLEX
  • Additional therapy (severe or refractory disease)
    • Rituximab (monoclonal antibody against CD20, found on the surface of B cells)
    • MMF
    • Azathioprine
  • Therapy to reduce thrombosis
    • Aspirin 75mg Once plt >50 x 109/L
    • Prophylactic LMWH once plt >50 x 109/L
Referral & Deposition
  • Needs urgent liaison with haematology if suspected
  • Arrange rapid transfer to specialist centre:
    • Always blue light (Agreement with regional ambulance services)
  • New cases - manage on HDU if not on ICU

Question No. 16

Q: Which patients with TTP should be admitted to critical care?

Answer No. 16

Which patients with TTP should be admitted to critical care?

Question No. 17

Q: Which centres should patients with TTP be managed at?

Answer No. 17

  • Given the very low incidence of TTP suggested that TTP managed at a regional referral centre:
    • Have multidisciplinary teams with experience in ICU and long- term aspects of management
  • National agreement now in place with Regional Ambulance Services that TTP forms one of nine conditions designated as a ‘critical transfer’ requiring immediate life‐saving transfer:
    • Due to risk of deterioration anaesthetic escort is advised to avoid arrival of unstable patients.

Question No. 18

Q: How does PLEX work in TTP?

Answer No. 18

  • Removed autoantibodies to ADAMTS13
  • Replaces ADAMTS13 in plasma

Question No. 19

Q: How should plasma exchange (PLEX) be performed in TTP?

Answer No. 19

  • Should be initiated as soon as possible (preferably within 4-8 hours of diagnosis):
    • Early initiation associated with better outcomes
    • May require emergency transfer to specialist centre
    • Should not wait for result of ADAMTSq3 activity assay
  • Ideally daily spun apheresis should be performed:
    • Initially, 1.5x plasma volume should be exchanged for 3 days
    • Then 1x plasma volume can be exchange
    • Once platelet count >150 x 109/L for 2 days consecutively can be discontinued
    • Duration of PLEX required to achieve remission is often highly variable
  • Detergent treated FFP should be used to reduce the risk of transfusion-transmitted infection

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