Haemophilia and inherited bleeding disorders — Rapid

Synopsis

Recognise inherited deficiencies of coagulation factors and primary haemostasis, investigate bleeding by phenotype before screening-test shortcuts, treat serious injury before imaging, and coordinate prevention, procedures, family testing and daily participation with a haemophilia centre.

Haemophilia causes deep muscle, joint and post-procedural bleeding; von Willebrand and platelet disorders more often cause epistaxis, gum bleeding, menorrhagia and easy bruising.
Treat suspected serious bleeding first: factor or the child's prescribed alternative should precede CT, transfer, suturing or other diagnostic delay.
Use the child's emergency card and individual plan, contact the haemophilia centre and identify product, dose, inhibitor status, venous access and recent treatment.
First-line investigation of unexplained bleeding is phenotype-led history, examination, FBC and film, PT, APTT and fibrinogen, but normal screening tests do not exclude von Willebrand disease, platelet dysfunction or factor XIII deficiency.
Reference-standard confirmation uses specific factor activity, von Willebrand antigen and activity, platelet studies and molecular testing selected by a specialist laboratory.
An isolated prolonged APTT can fit factor VIII, IX or XI deficiency; a normal APTT does not exclude mild haemophilia, and sample handling or age affects results.
Severe haemophilia needs prophylaxis individualised by the comprehensive care centre; adherence, trough protection, activity and breakthrough bleeds guide adjustment.
Avoid aspirin and usually NSAIDs, intramuscular injections, blind arterial puncture and invasive procedures without haemostatic planning.
Early factor followed by rest, safe ice, compression where appropriate and physiotherapy protects a bleeding joint; prolonged immobilisation worsens recovery.
Assess girls and women explicitly: heavy menstrual bleeding and iron deficiency can be the main manifestation of von Willebrand disease or low factor levels.

Key red flags

Head injury, severe headache, vomiting, drowsiness, seizure or focal neurological deficit requires immediate haemostatic treatment and urgent neuroassessment.

Neck, tongue or retropharyngeal bleeding can obstruct the airway before external swelling becomes dramatic.

Hip flexion with groin, abdominal or back pain may represent an iliopsoas bleed with femoral-nerve and major-volume consequences.

Painful tense limb swelling, paraesthesia, weakness or reduced pulses suggests compartment syndrome and needs factor treatment plus urgent surgical review.

A neonate with intracranial, umbilical or post-procedural bleeding, or a child with delayed re-bleeding despite normal PT and APTT, may have factor XIII or another rare deficiency.

A girl with heavy periods, iron deficiency or procedural bleeding and a relevant family history may be a symptomatic haemophilia carrier or have von Willebrand disease.

Investigation priorities

First-line FBC and peripheral filmFirst stepFirst line

Assess platelet number, anaemia from blood loss and abnormal platelet morphology.

First-line PT, APTT and fibrinogenFirst line

Screen extrinsic, intrinsic and common pathways and identify broad acquired coagulopathy.

Management branches

Head or critical-site injuryTreat before imaging

A child with known or suspected inherited bleeding disease has significant head trauma or a critical-site symptom.

Use the emergency card, call the haemophilia centre and give the prescribed factor or bypassing treatment immediately.
Stabilise ABCDE and arrange urgent imaging, observation and surgical or critical-care review after haemostatic cover.
Monitor factor recovery or treatment effect and repeat dosing according to the individual specialist plan.

Key medicines

Factor VIII concentrate for major bleedingFor a child with haemophilia A using a standard-half-life product and no inhibitor, one UK paediatric protocol gives 40 to 50 IU/kg IV immediately for head injury or major bleeding, then repeats 40 to 50 IU/kg every 8 to 24 hours as directed by factor levels and the haemophilia centre.The individual product and emergency plan override generic dosing; monitor recovery and inhibitor status, use the specialist target, and recognise that emicizumab or a factor inhibitor changes laboratory interpretation and treatment choice.

Factor IX concentrate for major bleedingFor a child with haemophilia B using the allocated product and no inhibitor, one UK paediatric protocol gives 80 to 100 IU/kg IV immediately for head injury or major bleeding and repeats at least every 24 hours until controlled under specialist monitoring.Product half-life and recovery vary, particularly in young children; use measured levels and haemophilia-centre advice, and do not use desmopressin because it does not correct factor IX deficiency.

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