Menorrhagia and Inherited Bleeding Disorders

Women bleed – and this is especially so in childbearing years where menstruation and childbirth represent significant haemostatic challenges. Up to 10 - 15% of women will experience menorrhagia in their lifetime – either as primary (present from menarche) or secondary (developing later in life). While the majority of excess bleeds are not related to haematological disorders, in certain series, bleeding diatheses accounted for 5 - 20% of underlying causes. These may be acquired (low platelets in patients with idiopathic thrombocytopenic purpura (ITP), antiplatelet drugs) or inherited bleeding disorders such as:

  • von Willebrand disease (vWD)
  • inherited platelet dysfunction disorders
  • haemophilia A or B carrier status
  • other rare factor deficiencies.

vWD is the most commonly reported diagnosis in most series, but the exact percentage varies according to the population studied and the number (and sensitivity) of the diagnostic tests employed.

Conversely, menorrhagia is a common presenting symptom of inherited disorders (up to 90% symptom prevalence in vWD). This is more likely to be primary, but secondary menorrhagia does not exclude the presence of an inherited disorder. A bleeding disorder is more likely if there is a history of increased haemorrhage at other sites.

Menorrhagia may interfere significantly with quality of life and lead to complications such as iron deficiency as well as increased rates of procedures such as hysterectomy (with potential postoperative complications in an undiagnosed bleeder). Other complications in women with these disorders include an increased risk of endometriosis, endometrial polyps and haemorrhagic ovarian cysts. Thus the burden of morbidity of undiagnosed bleeding disorders is likely to be large.

Obstacles to diagnosis

  • Menorrhagia, while defined objectively as bleed volume of more than 80 ml per month, remains a very subjective experience, and may be under-estimated (or over-) by both patient and caregivers. This problem may be abrogated by the validation of pictoral assessment bleeding charts.
  • Most causes of menorrhagia are not related to haematological disorders, and considerable costs may be incurred in fruitless investigations. The incidence of diagnosis is, however, related to the number of tests performed, and practitioners who claim that they do not see any cases are likely to be undertesting.
  • The tests are either not sensitive enough (bleeding time), or variable/difficult to interpret (von Willebrand assays), or not widely available/expensive (platelet aggregommetry, PFA-100) or combinations of the above problems (genotype-phenotype correlations difficult.)

Management
It may well be asked whether making a diagnosis will affect management, as many of the strategies employed in patients with bleeding diatheses are similar to those employed for those who do not suffer from these disorders. This may even be true for patients who undergo surgical procedures with minimal excess bleeding – and particularly true of delivery in patients with haemophilia A carriage or type vWD, where factor VIII and vWF levels increase progressively with pregnancy duration, and delivery may be uncomplicated (although levels drop postpartum and delayed haemorrhage may result.)

However, as many of these disorders have variable penetrance and fluctuate in an individual woman over time it should be noted that:

  • one uncomplicated haemostatic stress event may not predict a future uncomplicated event – note that this is not well supported in the literature, but is found in clinical practice
  • these disorders have genetic/family implications, and speedy diagnosis of the index patient may allow for further characterisation of the family transmission and identification of individuals at greater risk of haemorrhage
  • effective control of menorrhagia may avoid more drastic interventions that would otherwise be contemplated
  • drugs that potentially potentiate the bleeding diathesis (aspirin, NSAIDs) should be avoided.

All patients should have a good history taken, with assessment at other bleeding sites. A good drug history, particularly response to aspirin is indicated. In women who have a history of excess bleeding at non-gynaecological sites, or in whom no other cause for menorrhagia is found, the following tests are indicated: FBC, PT (INR), aPTT, fibrinogen, TSH (hypothyroidism may cause acquired vWD), bleeding time (if available and with cognisance of poor sensitivity) and assays for vWD. Further tests of platelet function are usually only available at specialised centres.

Treatment of patients with menorrhagia may not be significantly different to that of patients with non-haematologicalrelated bleeding, viz. the use of oestrogen containing compounds and antifibrinolytics (such as tranexamic acid). However, DDAVP, for both haemophilia A carriers, mild type 1 vWD and some platelet disorders, may be a useful adjunctive agent in improving levels and/ or function of the defective haemostatic component and ameliorating bleeding. For more serious bleeding, transfusions of factor concentrates or platelets may be required – this should always be in consultation with an experienced physician or clinical haematologist. Aspirin and (often) NSAIDs should be avoided, and a Medic Alert identification obtained. The genetic implications of the disorder should be reviewed with the patient, together with plans for future pregnancies if desired.

Thus, menorrhagia may be a seriously underrated and underinvestigated marker of an underlying bleeding diathesis, and each patient who presents with this symptom deserves to have this option considered in the diagnostic workup and therapeutic management.

Menorrhagia may interfere significantly with quality of life and lead to complications such as iron deficiency as well as increased rates of procedures such as hysterectomy.

Authors: McDonald, Andrew
Published: 2007
From: CME: Your SA Journal of CPD: Haematology, Vol 25, Issue 6, June
Pages: 282-283

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