Haemophilia and von Willebrand disease

Also called Haemophilia A, Haemophilia B, von Willebrand disease, Bleeding disorders

Inherited bleeding disorders. Von Willebrand is the common one, affects women and men equally, and is usually diagnosed decades late.

What it is

Inherited conditions in which the blood does not clot properly.

**Haemophilia** is a deficiency of clotting factor VIII or IX. It is rare, mostly affects males because of how it is inherited, and causes bleeding into joints and muscles. Treatment has been transformed: prophylactic factor replacement, and newer antibody and gene therapies, mean many children now grow up with almost no bleeds and normal joints.

**Von Willebrand disease** is much more common, affecting perhaps 1 in 100 people in mild form, and affects women and men equally. It usually causes mucosal bleeding: nosebleeds, gum bleeding, bruising and, above all, heavy periods.

That last point is the most useful in this entry. Heavy menstrual bleeding from the very first period, with a family history of easy bruising or heavy periods, is a classic and repeatedly missed presentation of von Willebrand disease. Girls and women are treated for years for heavy periods, and become anaemic, without anybody testing their clotting.

The infected blood scandal, in which thousands of people with bleeding disorders were given blood products contaminated with HIV and hepatitis C, is part of this community's history, and the mistrust it created is legitimate and long-lasting.

Everyone with a bleeding disorder should be registered with a haemophilia centre and carry a card.

Signs you might notice

Bleeding for longer than expected after cuts, dental work or surgery.

Easy or unusual bruising, including lumpy bruises.

Frequent or prolonged nosebleeds.

Very heavy periods, especially from the first ever period, flooding, clots, and needing to change protection hourly.

Bleeding after childbirth that is heavier or more prolonged than expected.

In haemophilia: joint bleeds causing a warm, swollen, painful joint with tingling before the pain; muscle bleeds; and bleeding after minor injury.

Emergency: any head injury, however minor, in someone with haemophilia; severe or persistent bleeding; a joint bleed; abdominal or neck swelling; or a sudden severe headache. Go straight to the haemophilia centre or A and E with the treatment card.

How it can affect day-to-day life

For haemophilia, prophylaxis has changed childhood entirely, and adults living with joint damage from an earlier era are a different group with different needs, including pain management and physiotherapy.

For von Willebrand, the burden falls heavily on women and is under-recognised: heavy periods, iron deficiency, bleeding after childbirth, and surgical bleeding.

Anti-inflammatory painkillers such as ibuprofen and aspirin should generally be avoided; they worsen bleeding.

Any surgery, dental extraction or invasive procedure needs planning with the haemophilia centre in advance, including pregnancy and delivery.

Carriers of haemophilia can have low factor levels and bleeding symptoms themselves, and have historically been dismissed as unaffected. That has changed and should be asked about.

Tranexamic acid is simple, cheap and highly effective for mucosal bleeding and heavy periods, and is under-used.

Supporting someone well

For heavy periods from the first period, with bruising or a family history, ask for clotting studies including von Willebrand testing. This is the missed diagnosis.

Register with a haemophilia centre and carry the card everywhere.

For haemophilia, treat any head injury as an emergency regardless of how it looks.

Avoid ibuprofen and aspirin unless specifically advised.

Plan any procedure, extraction, surgery or delivery with the centre beforehand.

Ask about tranexamic acid for periods, nosebleeds and dental work.

Treat iron deficiency; check ferritin, not just haemoglobin.

Ask about family testing, including for female relatives.

For joint bleeds, treat immediately and then get physiotherapy; repeated bleeds destroy joints.

Where to get help

A comprehensive care haemophilia centre, which coordinates everything.

A GP practice for referral and for clotting tests.

A and E or the centre directly for any significant bleed or head injury.

Haemophilia Society run support services and campaign on the infected blood inquiry.