Haemophilia A and B, Von Willebrand disease

D66/D67/D68.0

DESCRIPTION

Haemophilia A, haemophilia B and von Willebrand's disease are chronic bleeding disorders caused, respectively, by a lack of clotting factor VIII, clotting factor IX and von Willebrand factor (VWF, a carrier protein for factor VIII). Presentation depends on severity of the condition (see classification below).

Complications include haemarthrosis with later chronic arthropathy, intracranial haemorrhage, soft tissue and muscle haematomas. Pain/tingling in a joint suggests bleeding into the joint in a known haemophiliac.

Early consultation with a haematologist or a clinician with expertise in the handling of such patients is advisable. Clinicians should make contact with their local haemophilia centre which may be identified at: http://www.haemophilia.org.za/treatment-centres/

All patients diagnosed with haemophilia should at least annually attend a specialised Haemophilia Treatment Centre with a dedicated multi-disciplinary health care team as guided by the local Haemophilia Treatment Centre.

Subclassification (factor VIII and IX deficiency):

Class Clotting factor % of normal Signs
Mild VIII or IX >5–<40% Occasional bleeds
Moderate VIII or IX 1–5% Less frequent bleeding
associated with trauma,
surgery or dental work
Severe VIII or IX < 1% Traumatic or
spontaneous bleeds

Investigations

Prolonged partial thromboplastin time (PTT).

Factor VIII or factor IX concentration and inhibitor screen.

TREATMENT GUIDELINES

Treatment approaches are divided into two main categories: prophylaxis and on demand.

Prophylaxis

Secondary prophylaxis is sometimes needed in patients presenting with a target joint in consultation with a Haemophilia Treatment Centre.

The aim is to reduce the number of bleeds and prevent or delay development of joint arthropathy.

Treatment on Demand

Episodic treatment for bleeding episodes is referred to as on-demand therapy (i.e. the use of factor replacement therapy after bleeding occurs).

GENERAL MEASURES

  • Patient and family education.
  • Enroll on the Haemophilia registry.
  • Alert bracelet.
  • Dental care (discuss management of tooth extraction with local haemophilia centre).
  • Avoid contact sport.

Acute bleeds into joints

Patients with severe haemophilia should be trained to self-administer their clotting factor concentrate.

Adjunctive management

  • Protection (splint but no circumferential casting).
  • Rest the affected limb until pain free and no weight bearing.
  • Ice packs may be applied immediately (apply ice, 5 minutes on and 10 minutes off).
  • Elevation of the affected limb.

MEDICINE TREATMENT

For pain: Refer to Anaesthesiology, pain and intensive care.

Exercise great caution when taking blood specimens.
Taking blood from femoral veins is absolutely contra-indicated.
Do not use central lines for transfusions. Do not do joint aspirations.
Avoid IM injections.
Avoid aspirin and NSAIDS.

HAEMOPHILIA WITH NO INHIBITORS

The dose of the factor VIII and IX is individualised as it is dependent on body mass, severity of the condition, and the nature and site of the bleeding.

Factor VIII deficiency (with no inhibitor present)

Minor bleeds:

Bleeds into the muscle or soft tissue, mouth or gums, epistaxis, painless haematuria and early joint bleeds.

Treatment:

  • Factor VIII, intravenous, 25 IU/kg IV, immediately as a single dose.
    • If there is evidence of ongoing bleeding after 12 hours, consult with local haemophilia treatment centre.

Major bleeds:

Advanced muscle or joint bleeds, bleeds resulting from severe injury, or bleeds that affect the central nervous system; gastrointestinal system; neck or throat; hip or iliopsoas; or forearm compartment.

Treatment:

  • Factor VIII, intravenous, 50 IU/kg, immediately as a single dose.
    • All of these patients need hospitalization.
    • Discuss all patients promptly with local haemophilia treatment centre.

LoEIII [14]

Factor IX deficiency (with no inhibitor present)

Minor bleeds:

Bleeds into the muscle or soft tissue, mouth or gums, epistaxis, painless haematuria and early joint bleeds.

Treatment:

  • Factor IX, intravenous, 40 IU/kg immediately as a single dose.
    • If there is evidence of ongoing bleeding after 12 hours, consult with local haemophilia treatment centre.

Major bleeds:

Major muscle or joint bleeds, bleeds resulting from severe injury, or bleeds that affect the central nervous system; gastrointestinal system; neck or throat; hip or iliopsoas; or forearm compartment.

Treatment:

  • Factor IX, intravenous, 60 IU/kg immediately as a single dose.
    • All of these patients need hospitalisation.

Discuss all patients promptly with local haemophilia treatment centre to plan ongoing treatment and factor replacement.

LoEIII [15]

Mucous membrane bleeds in haemophilia A and B:

  • Tranexamic acid, oral, 1 g, 6 hourly.

Ideally elective surgery should be perfomed at a tertiary centre with a consultation with a haematologist.
In emergencies, treat as major bleed and consult the local Haemophilia Treatment Centre as soon as feasible.

If serious bleeding with known haemophilia, and no factor VIII available:

  • Lyophilised plasma, IV, 15 mL/kg.

OR

FFP, IV, 15 mL/kg.

LoEII [16]

HAEMOPHILIA WITH INHIBITORS

Refer for assessment and planning with a haematologist.

VON WILLEBRAND’S DISEASE

Mild bleeding

Such as epistaxis and menorrhagia.

Antifibrinolytics, e.g.:

  • Tranexamic acid, oral, 1 g 6 hourly.

Recurrent menorrhagia can also be treated effectively with oral contraceptives. See Uterine bleeding, abnormal.

More severe mucous membrane bleeding

Consult a local haemophilia treatment centre.

During surgery or after major trauma, patients should receive:

  • Von Willebrand factor VIII concentrate, IV, 30 units/kg/dose given every 12 hours.
    • Continue for 48–72 hours to ensure optimal haemostasis.
    • For major surgical procedures, use for 7–10 days.

LoEIII

REFERRAL

  • All cases with suspected haemophilia (prolonged PTT and normal INR) to a haemophilia treatment centre, for assessment, genetic counselling and planning of management.
  • Patients with proven antibodies (inhibitors) against factor VIII or IX.
  • For further replacement, complex situations and complications in consultation with a haematologist.