AKT · Haematology/Bleeding & clottinglow yield

Coagulation disorders (haemophilia & VWD)

Deficiency/dysfunction of clotting factors (haemophilia A/B) or von Willebrand factor

Overview

Inherited bleeding disorders of the coagulation cascade. Haemophilia A (factor VIII) and B (factor IX) are X-linked recessive and cause a deep-bleeding pattern (haemarthroses, muscle haematomas) with a prolonged APTT and normal PT. Von Willebrand disease (commonest inherited bleeding disorder, usually autosomal dominant) causes a platelet-type mucocutaneous bleeding pattern through deficient/defective von Willebrand factor (which also carries factor VIII).

Recognise

Haemophilia (X-linked, males): deep bleeding — haemarthroses (joint damage), muscle haematomas, prolonged bleeding after surgery/trauma; prolonged APTT, normal PT and platelets
Von Willebrand disease (autosomal dominant, both sexes): mucocutaneous (platelet-type) bleeding — epistaxis, menorrhagia, gum/easy bruising; can prolong APTT (low factor VIII)
Distinguish from platelet disorders (mucocutaneous) and from acquired coagulopathy (liver disease, warfarin, DIC, vitamin K deficiency)

Red flags

Intracranial or significant bleeding in haemophilia → urgent factor replacement
Do NOT give intramuscular injections or aspirin/NSAIDs in bleeding disorders

Differentials & how to tell them apart

Platelet disorder / thrombocytopeniamucocutaneous bleeding with low/dysfunctional platelets — different screen

Acquired coagulopathyliver disease, warfarin (high INR), vitamin K deficiency, DIC — context + PT/APTT pattern

Haemophilia vs VWDdeep bleeding + isolated APTT prolongation (haemophilia) vs mucocutaneous bleeding + low vWF (VWD)

Investigations

Coagulation screen — APTT (prolonged in haemophilia/VWD), PT (normal), platelets (normal); factor VIII/IX assays (haemophilia); von Willebrand factor antigen + activity + factor VIII (VWD); mixing studies; bleeding history/family history (X-linked vs autosomal dominant).

Management

Haemophilia → factor VIII/IX (± desmopressin for mild A); VWD → desmopressin/vWF concentrate + tranexamic acid

1Characterise the bleeding pattern and coagulation screen — deep bleeding + isolated prolonged APTT (normal PT/platelets) → haemophilia (factor VIII/IX assay); mucocutaneous bleeding → von Willebrand disease (vWF antigen/activity + factor VIII).Gate: In any bleeding disorder, avoid IM injections and aspirin/NSAIDs; intracranial/major bleeding in haemophilia needs urgent factor replacement.
2Haemophilia → factor replacement (± desmopressin for mild A); VWD → desmopressin/vWF concentrate + tranexamic acid; specialist haemophilia-centre care and genetic counselling.

Haemophilia: factor VIII or IX replacement (on-demand or prophylaxis) — plus desmopressin for mild haemophilia A (releases stored factor VIII); avoid IM injections/NSAIDs

VWD: desmopressin (mild) and/or von Willebrand factor concentrate — tranexamic acid for mucosal bleeding/menorrhagia

Tranexamic acid (antifibrinolytic) — useful adjunct for mucosal bleeding in both

Specialist haemophilia-centre care + avoid bleeding-risk drugs — genetic counselling; manage joint disease

Key points

Deep bleeding (haemarthroses/muscle haematomas) + isolated prolonged APTT (normal PT/platelets) in a male = haemophilia (A=VIII, B=IX) → factor replacement (± desmopressin for mild A). Mucocutaneous bleeding + low vWF = von Willebrand disease → desmopressin/vWF concentrate + tranexamic acid. Avoid IM injections and NSAIDs.

Monitor & prognosis

Bleeding episodes/joint health, factor levels, inhibitor development; genetic counselling.

Good with prophylaxis/replacement; joint damage and inhibitors are the main complications.

Source: BSH/UKHCDO; cross-ref pharmacology (desmopressin, tranexamic acid)