Haemophilia Emergencies

Haemophilia in general
Classic haemophilia is an X-linked disorder, with either a deficiency of factor VIII (haemophilia A), or of factor IX (haemophilia B) being inherited from the mother. Factor VIII and IX, together with phospholipid, form the "tenase" complex which converts factor X to its active form Xa; deficiency of one is clinically indistinguishable from the other, and the diagnosis is made on specific assays and blood levels. This level also serves to categorise the severity, with a factor level of < 1% being severe, 1 - 5% moderate and 5 - 25% mild. The severe and moderately affected individuals are prone to spontaneous bleeding - usually in joints – for which most patients are on home factor replacement therapy. They may, however, also present with spontaneous life threatening bleeds; inappropriate iatrogenic intervention may also be responsible for this situation. For this reason, the emergency poster (Fig. 1) has been prepared and will be widely distributed to emergency units. This accompanying commentary will highlight certain features of this poster.


Fig. 1.

Why factor first?
This is a recognition that most emergencies in severe or moderate haemophiliacs are likely to be related to bleeding, and that not only is early factor replacement more effective and may require a lower dose to control bleeding (note: these are expensive products), but delay will also allow further potential complications to develop, which may have been avoided had therapy been initiated earlier.

Do’s

  • Most people living with haemophilia (PWH) or their families will not only know their diagnosis, but also their severity level and may be far more aware than the practitioner of not only the significance of certain symptoms, but also the need to give factor urgently. This, as is the case in rare disorders, should not lead the medical practitioner to dismiss the input of the PWH or their family as interfering with their autonomy, but rather to utilise the unique knowledge that these people may have acquired. It is, however, also a mistake to assume that all PWH or their families are fully informed about the condition, and each case should be treated on its merits.
  • Most patients should be wearing a Medic-Alert identification, which will enable appropriate factor therapy if they are not aware of which factor is deficient. In any event, most experienced physicians, paediatricians or haemophilia nursing practitioners know their patient base, and are approachable for information regarding the diagnosis, complications and best treatment options for each PWH.
  • PWH who have developed high titre inhibitors (most often severe factor VIII deficient individuals) represent a difficult therapeutic challenge. Specialised ‘bypass’ therapies such as FEIBA or Novoseven have been developed, and require highly specialised input as they are extremely expensive, and may not be effective if given incorrectly. Certain PWH may be on home therapy with these products, but would be the one exception to the rule of factor first if presenting with ongoing symptoms. Urgent consultation with an experienced physician is required.

Don’ts

  • Do not ignore minor complaints – the patient with the intracerebral haemorrhage noted in Fig. 2 presented with a mild headache progressive over 2 days, but was ignored, which ultimately lead to his death. In fact, head bleeds are notorious for subtle presentation, and a very low threshold for CT scanning is indicated (with careful review as the radiological signs may be extremely subtle).

    Fig. 2. Patient with intracerebral haemorrhage.
  • Do not check levels – factor VIII or IX levels are genetically determined, and do not fluctuate in severe or moderate PWH.It only delays time to effective therapy if the level is first measured to check if the patient still has haemophilia. There are, however, two potential causes for PWH not to respond to factor therapy, namely ongoing surgical type bleeding, which would require control by physical means (as in normal individuals); or the development of newly acquired antibodies (or inhibitors) to the factor therapy. In this situation, it would be advisable to measure factor levels post infusion.
  • Do not sample arterial blood – many PWH have poor venous access and it is tempting to perform arterial venepunctures to obtain blood samples. This has a high complication rate in untreated PWH.
  • Surgical interventions without factor therapy may appear to be feasible, as there is usually not an increased haemorrhage rate in theatre, as an initial fibrin clot may be formed. However, this is of poor quality, and is susceptible to rapid fibrinolysis, with resumption of bleeding, which is ongoing. Subsequent haematoma formation, wound infection and poor healing contribute to a massive increase in factor requirement compared with appropriate initial therapy, at considerable extra cost.
  • Intramuscular infections have a high rate of haematoma formation, and should be avoided.
  • Aspirin and most NSAIDs interfere with platelet function – they are inappropriate agents for analgesia in the acute setting with pain associated with a haemorrhage.

Conclusion
Haemorrhage is a frequent occurrence in PWH; as these disorders are not common, many doctors and nurses do not have experience in management, and trivial symptoms should not be ignored. Consultation with a more experienced physician is advised. Contact details for the major haemophilia centers and units are found in the table below.

Authors: McDonald, Andrew; Cruickshank, Anne-Louise
Published: 2007
From: CME: Your SA Journal of CPD: Haematology, Vol 25, Issue 6, June
Pages: 280-282

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