Haemostasis and coagulation disorders

Bleeding disorders encompass various diseases that can cause an abnormal tendency to bleed. They may be inherited, present from birth, or develop later in life.

The main diseases managed include:

• haemophilia A and B, linked to a deficiency in factor VIII or IX;
• von Willebrand disease, a common inherited bleeding disorder;
• rare coagulation factor deficiencies;
• disorders of platelet function;
• certain acquired bleeding disorders.

Symptoms vary widely: frequent bruising, recurrent nosebleeds, bleeding gums, very heavy periods in adolescent girls, and prolonged bleeding after an injury, dental extraction or surgical procedure.

Some more severe forms may cause muscle or joint bleeding or, more rarely, serious internal bleeding.

A specialist assessment can determine whether these symptoms are due to a genuine haemostasis disorder and identify its cause.

Treatment is tailored to the diagnosis, the severity of the disorder and the circumstances. It may include:

• coagulation factors;
• desmopressin in certain situations;
• antifibrinolytic medicines to limit bleeding;
• specific treatments for platelet disorders;
• for certain forms of haemophilia, regular prophylactic replacement or non-replacement treatments;
• exceptionally, other specialised treatments.

Some children only need treatment in the event of bleeding, surgery or dental care. Others require regular preventive treatment.

The aim is to prevent haemorrhages while enabling as normal a daily, school and sporting life as possible.

Depending on the child’s needs, care may involve:

• paediatric haematologist;
• specialist nurse;
• biologist specialising in haemostasis;
• physiotherapist;
• gynaecologist, particularly for adolescents with heavy periods;
• dentist;
• surgeon and anaesthetist when surgery is required;
• geneticist;
• psychologist and social worker, if necessary.

Coordination with the child’s general practitioner and other specialists helps tailor care to each situation.

The care pathway generally begins with a specialist consultation and a haemostasis assessment tailored to the symptoms and personal and family medical history.

When the diagnosis is confirmed, follow-up may include:

• regular assessment of bleeding symptoms;
• specific laboratory tests;
• an individualised treatment plan;
• recommendations for dental care and surgical procedures;
• advice on medicines to avoid;
• recommendations concerning physical and sports activities;
• guidance on what to do in the event of trauma or bleeding;
• information for the school or other childcare settings, if necessary;
• learning how to administer treatment at home for certain diseases.

Particular attention is paid to periods of risk: surgical procedures, dental care, trauma, travel and, in adolescent girls, the onset of heavy menstrual periods.

During adolescence, young people gradually become involved in managing their condition.

In particular, they learn to:

• know their diagnosis precisely;
• recognise situations requiring treatment or medical advice;
• know which medicines to avoid;
• manage their treatment when one is required;
• prepare for surgical or dental procedures;
• organise their sporting activities and travel;
• know whom to contact in an emergency.

For adolescent girls with a bleeding disorder, questions relating to menstruation, contraception and, later on, pregnancy may also be discussed.

The transition to the adult haematology team is prepared gradually with the young person and their family.

Our understanding and treatment of bleeding disorders have advanced considerably.

In haemophilia in particular, new treatments now make it possible to prevent bleeding more effectively and reduce the burden of treatment.

Research also focuses on improving the diagnosis of rare bleeding disorders, new treatments for haemophilia and von Willebrand disease, and gene therapy.

A specialist consultation may be offered in particular in the event of:

• frequent or abnormally prolonged bleeding;
• significant or unexplained bruising;
• recurrent nosebleeds;
• particularly heavy menstrual periods;
• excessive bleeding after surgery, tooth extraction or trauma;
• an unexplained abnormality in coagulation test results;
• a family history of bleeding disorders;
• haemophilia, von Willebrand disease or another known haemostatic disorder requiring specialist follow-up.