Diagnosing a bleeding disorder
Bleeding disorders can be difficult to diagnose. Repeated testing may be needed to confirm the diagnosis. Understanding the laboratory test results is complex and needs to be done by a haematologist and laboratory with experience in bleeding disorders.
Diagnosis can be tricky if you have heavy bleeding with your periods and a bleeding disorder. It can be hard to know if:
- Your bleeding disorder is causing the heavy periods
- You have a women’s health problem that is unrelated to your bleeding disorder.
- Your bleeding disorder is making another problem worse.
Your GP or your Haemophilia Treatment Centre might refer you to a gynaecologist to help understand what is happening with you. This allows your GP, Haemophilia Team and gynaecologist to work as a team.
VWD can be difficult to diagnose and repeated testing may be needed to confirm the diagnosis. Understanding the laboratory test results is complex and needs to be done by specialists with experience in VWD.
Many people’s symptoms are mild and they may not be diagnosed until they have a major bleeding problem such as surgery or an injury. However if they have a severe form of VWD, they will usually have major bleeding problems as a baby or small child and will often be diagnosed within their first year of life.
Diagnosing VWD involves:
- A personal history of abnormal bleeding or bruising from mucous membranes (such as the nose, mouth, uterus, vagina, stomach and intestines) or from the skin after injury, trauma or surgery and
- A family history of bleeding problems and
- Specialised laboratory test results for VWD
If you know, or your family history suggests, that you might carry the gene causing haemophilia, it is important to have at least one visit to the Haemophilia Treatment Centre. This is to discuss your individual health situation and can include:
- Clotting factor level testing to see whether you need a treatment plan.
Factor level testing is a good idea before you start menstruating (getting your period), or if you are having heavy periods. The initial treatment options for heavy periods are generally similar whether or not you have a bleeding disorder, but there may be other treatment options that are appropriate if your clotting factor level is low. Factor level testing is also really important before medical procedures such as dental work or surgery. Just keep in mind that having a test for clotting factor levels does not tell you if you carry the gene for haemophilia. You can have normal levels but still carry the altered gene.
- Genetic testing to see if you have the gene
This includes discussing the pros or cons about having a genetic test to know for sure before you have testing (sometimes called ‘genetic counselling’). Then if you go on with testing, it will identify whether you have the gene or not.
- Planning a pregnancy and things to think about.
You can find out options to reduce the chance of passing the gene onto your children, and how to plan for a safe pregnancy and delivery. It’s really important that you find out about these options before you become pregnant.
Diagnosing rare clotting factor deficiencies
- Most rare clotting factor deficiencies are diagnosed through a variety of blood tests, including tests to measure the amount of particular clotting factors in the blood. It is best if these are ordered by a specialist doctor (haematologist) at a Haemophilia Treatment Centre, who will use a specialist coagulation laboratory to do this kind of testing. The haematologist may need to request very specific tests, for example, the test for factor XIII (13) deficiency because factor XIII deficiency will not show up in routine clotting factor tests. The tests are complex and the specialist doctor will have to look closely at the results and may need to rule out other bleeding disorders.
Diagnosing inherited platelet disorders
- To have an inherited platelet disorder diagnosed, you will need to see a specialist doctor at a Haemophilia Treatment Centre. The specialist will talk to you, and your parents if they are present, about your health and history of bleeding.
- You will also need to have a series of blood tests, including tests that measure how well the platelets “aggregate” (stick to each other) in response to various stimuli (things that cause a reaction). Quite a few blood tubes need to be collected for these tests and the results can be affected by many factors in the process of collection, transport to the laboratory and testing. This may mean that repeated testing is necessary before your doctor is satisfied that a diagnosis of a platelet function disorder is appropriate.
Contact details of Haemophilia Treatment Centres in Australia are available on the HFA website.
If you’d like to know more about diagnosing a bleeding disorder download our Female Factors Female Factors - Working with your Haemophilia Treatment Centre resource here. This contains more information on diagnosing bleeding disorders including:
- Diagnosing VWD
- Diagnosing haemophilia
- When to have clotting factor level testing
- Genetic testing for Haemophilia
- Diagnosing rare clotting factor deficiencies
- Diagnosing inherited platelet disorders
For more information on bleeding disorders in young women read our full Female Factors resource here