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PVT

Perth Haematology :: Dr Steven Ward

Paroxysmal Nocturnal Haemoglobinuria (PNH)

 

 

Paroxysmal Nocturnal Haemoglobinuria

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Haemolytic anaemia

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Marrow failure (aplasia)

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Thrombophilia

 

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Due to non-malignant clonal expansion of haemopoietic stem cell(s) with somatic mutation of PIG-A gene.
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Defect in glycosyl phospatidyl inositol anchor

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Loss of Complement regulatory Proteins CD59, CD55

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Anaemia: complex
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Coomb’s negative HA

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Also marrow failure

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Worse with episodes of complement activation (infection, trauma, surgery, pregnancy)

 

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Management:
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Steroids

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Androgen

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Iron replacement

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Transfusion

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Splenectomy

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Folate

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Eculizumab: C5 inhibitor

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Stem cell transplant (Aplastic Anaemia)

 

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Thrombosis
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Major cause of morbidity and death

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Mechanism is unclear

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? Related to size of PNH clone
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Clone >50% = VTE risk of 44%

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Clone <50% = VTE risk of 5.8%

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? VTE prophylaxis – debatable; ? Selective; Ethnic variation

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VTE usually venous. Heparin, warfarin

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Thrombolysis for Budd-Chiari

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Ongoing anticoagulation after VTE