Haemophilia

Overview

Haemophilia and Von Willebrand disease are genetic disorders that impair the body's blood clotting ability. Patients either lack or have too low a level of certain proteins (known as clotting factors) in their blood, or these proteins are unable to react properly. The main symptom common to all sufferers is an increased tendency to bleed, which presents with frequent bruises and a slow blood clotting process. These diseases should be discussed with a doctor.

Symptoms

Haemophilia

• Mild haemophilia
  • Slightly increased tendency to bruise
  • Usually diagnosed in adolescence or adulthood
• Moderate haemophilia
  • Large bruises after a small injury
  • Mostly diagnosed during early childhood
• Severe haemophilia
  • Spontaneous haemorrhaging (skin, mucous membranes)
  • Bleeding into the muscles and joints
  • Bleeding into the gastro-intestinal tract (red or black stools)
  • Bleeding into the urinary tract (blood in urine)

Von Willebrand disease

• Frequent nosebleeds
• Heavy periods
• Frequent bruising after a small injury
• Bleeding into the muscles and joints

Causes and treatment

Causes

Haemophilia

• Hereditary disease
  • Mutation on X chromosome, men get the disease
  • Women: carriers of the gene (seldom contract the disease)
  • Sometimes a new gene mutation
• Haemophilia A: lack of clotting factor VIII
• Haemophilia B (more rarely): lack of clotting factor IX

Von Willebrand disease

• Hereditary disease
• Affects both women and men
• Most common hereditary blood-clotting disorder
• Von Willebrand factor (blood clotting protein) is missing or defective

Further treatment by your doctor / in hospital

Possible tests

• Blood test (“clotting laboratory”)
• Physical examination

Possible therapies

• Prevention of injuries
  • Recommendation to avoid strenuous physical activity, if necessary
• Administration of desmopressin
• Administration of clotting factors
  • Moderate and more severe forms of haemophilia
  • During surgery
  • After injuries
  • Von Willebrand disease: needed more rarely

What can I do myself?

• Avoid injuries
  • Avoid doing extreme sports
  • Avoid strenuous physical activity, if necessary
• Always inform doctor (and dentist) before undergoing treatment
• Learn coping mechanisms
  • Self-examination for signs of bleeding into the skin, muscles and joints
  • Bandage to stop bleeding (emergency kit)
  • Self-treatment with emergency medication
• Self-help group (sufferers, families)

When to see a doctor?

• Call emergency number 144: uncontrollable bleeding or large haematomas under the skin
• Wounds continue to bleed for too long
• Red or black stools
• Reddish urine
• Frequent bruises (after only slight pressure)
• Bleeding into the skin and mucous membranes
• Family history of blood clotting disorders
  • Diagnosis, consultation
  • Genetic counselling before trying to fall pregnant

Further information

Schweizerische Hämophilie-Gesellschaft (Swiss Haemophilia Society)
www.shg.ch

Selbsthilfe Schweiz (Self-Help Support Switzerland)
www.selbsthilfeschweiz.ch

Synonyms

haemophilia, bleeding diathesis, haemorrhagic diathesis, Von Willebrand disease, Von Willebrand-Jürgens syndrome, VWD, angiohaemophilia