Bleeding Disorders

Definition | Types | Aetiology | Pathophysiology | Risk Factors | Signs and Symptoms | Investigations | Management | References

Definition

Bleeding disorders are a group of conditions that result when the blood cannot clot properly. This can lead to prolonged bleeding after injury, surgery, or trauma and can also result in spontaneous bleeding in various parts of the body.

Types

Bleeding disorders can be broadly classified into several types:

• Haemophilia: A genetic disorder where the blood lacks sufficient clotting factors. The two main types are Haemophilia A (deficiency of factor VIII) and Haemophilia B (deficiency of factor IX).
• von Willebrand Disease (vWD): The most common inherited bleeding disorder, caused by a deficiency or dysfunction of von Willebrand factor, which helps platelets adhere to the blood vessel wall.
• Platelet Function Disorders: Conditions where the platelets do not function properly, even if the platelet count is normal. Examples include Glanzmann's thrombasthenia and Bernard-Soulier syndrome.

Aetiology

Bleeding disorders can be inherited or acquired:

• Inherited: Genetic mutations that affect clotting factors or platelet function (e.g., Haemophilia, von Willebrand disease).
• Acquired: Conditions or factors that affect clotting mechanisms (e.g., liver disease, vitamin K deficiency, use of anticoagulant medications).

Pathophysiology

The pathophysiology of bleeding disorders varies depending on the type:

• Haemophilia: Lack of clotting factors (factor VIII or IX) leads to an inability to form a stable fibrin clot, resulting in prolonged bleeding.
• von Willebrand Disease: Deficiency or dysfunction of von Willebrand factor impairs platelet adhesion and aggregation, leading to bleeding.
• Platelet Function Disorders: Abnormalities in platelet surface receptors or signalling pathways result in impaired platelet aggregation and clot formation.

Risk Factors

• Family history of bleeding disorders
• Genetic mutations
• Chronic liver disease
• Use of anticoagulant medications
• Vitamin K deficiency

Signs and Symptoms

Common signs and symptoms of bleeding disorders include:

• Frequent nosebleeds
• Easy bruising
• Excessive bleeding from cuts or injuries
• Prolonged bleeding after surgery or dental work
• Spontaneous bleeding into joints (haemarthrosis) in severe cases of haemophilia
• Heavy menstrual bleeding (menorrhagia)

Investigations

• Full blood count (FBC): Assess for thrombocytopenia or anaemia.
• Prothrombin time (PT) and activated partial thromboplastin time (aPTT): To evaluate the clotting cascade.
• Clotting factor assays (e.g., factor VIII, factor IX levels): Low levels indicate haemophilia.
• von Willebrand factor antigen and activity assays: Reduced levels or activity indicate vWD.
• Platelet function tests (e.g., platelet aggregation studies): Abnormal results indicate platelet function disorders.
• Genetic testing for specific mutations: To confirm hereditary bleeding disorders.

Management

Haemophilia Management

• Replacement therapy: Infusions of the missing clotting factor (factor VIII or IX). Findings: Prolonged aPTT, low factor VIII or IX levels.
• Desmopressin (DDAVP): Used in mild cases of Haemophilia A to stimulate the release of stored factor VIII.
• Antifibrinolytic agents: Medications like tranexamic acid to prevent the breakdown of clots.
• Gene therapy: Emerging treatment option aiming to provide a long-term cure.
• Prophylaxis: Regular infusions to prevent bleeding episodes in severe cases.

von Willebrand Disease Management

• Desmopressin (DDAVP): To release stored von Willebrand factor and factor VIII. Findings: Prolonged bleeding time, reduced von Willebrand factor levels.
• Replacement therapy: Infusions of von Willebrand factor concentrates.
• Antifibrinolytic agents: Medications like tranexamic acid to prevent the breakdown of clots.
• Oral contraceptives: To reduce heavy menstrual bleeding in women with vWD.

Platelet Function Disorders Management

• Platelet transfusions: To provide functional platelets in severe cases. Findings: Normal platelet count, abnormal platelet function tests.
• Antifibrinolytic agents: Medications like tranexamic acid to prevent the breakdown of clots.
• Desmopressin (DDAVP): May be useful in some platelet function disorders.

General Management

• Avoidance of anticoagulant medications: Unless absolutely necessary.
• Regular monitoring: Routine follow-ups with a haematologist to manage and adjust treatment plans.
• Patient education: Teaching patients how to recognise and manage bleeding episodes.

Primary Care Management

• Referral to a specialist: Patients should be referred to a haematologist for further evaluation and management.
• Initial management: Stabilisation of bleeding and supportive care. Findings: Abnormal coagulation profile, signs of active bleeding.

References

1. NHS. (2024). Bleeding Disorders. Retrieved from NHS
2. Haemophilia Society. (2024). Haemophilia. Retrieved from Haemophilia Society
3. Von Willebrand Disease. (2023). Von Willebrand Disease. Retrieved from NHS
4. National Hemophilia Foundation. (2022). Management of Bleeding Disorders. Retrieved from NHF

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