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Reviewer's details
Bleeding Disorders in Children
Bleeding disorders are a group of conditions (Inherited or acquired) that share a problem with the body’s blood clotting process. They can be classified as disorders of primary haemostasis (quantitative/qualitative platelet dysfunction or vasculopathy), secondary haemostasis (low concentration/activity of coagulation factors) or both. Acquired disorders are more common than inherited causes. The interplay between coagulation and fibrinolytic systems ensures that blood remains in its fluidity state within the blood vessels.
History
In evaluating children with bleeding disorders, the following information is essential towards arriving at a diagnosis: age of onset, duration of bleeding, site of bleeding, the severity of bleeding, obvious cause e.g. trauma versus spontaneous, past medical history of bleeding e.g. post-circumcision bleeding, family history of bleeding disorder in parents, uncles or siblings, medication history, and the sex of the patient. Bleeding questionnaires should be completed.
Symptoms may include:
- Trauma/Injury bleeds- bruising, prolonged bleeding
- Skin bleeds- petechiae, purpura, ecchymosis
- Mucosal bleeds- epistaxis, oral bleeding
- Tissue bleeds- muscle bleeds, joint bleeds (haemarthrosis)
- Life-threatening bleeds- intracranial haemorrhage.
Detailed physical assessment should include local injury examination, orifices, throat, lymph nodes, skin, liver and spleen. Check for features of complications such as pallor and shock by taking vital signs e.g. pulse, respiratory rate, blood pressure and oxygen saturation.
This should include:
- Platelet count and peripheral smear
- Prothrombin time (PT) – assesses the extrinsic pathway clotting factors II, V, VII and X.
- Activated partial thromboplastin time (aPTT)- assesses the intrinsic pathway by measuring the efficacy of VWF, IX, XI and XII.
- von Willibrand disease testing
- Fibrinogen assay.
- Abnormal blood count.
- Pancytopaenia – myeloproliferative diseases, aplastic anaemia, folate/B12 deficiency
- Thrombocytopaenia – ITP, TTP, HUS, DIC, SLE
- Abnormal coagulation tests:
- aPTT prolonged/PT normal – Haemophilia, von Willibrand disease
- PT prolonged/aPTT normal – Factor VII deficiency (rare)
- Both PT and aPTT are prolonged:
- Well child – ITP, vitamin K deficiency
- Sick child – liver disease, renal disease, consumptive coagulopathies
- Abnormal von Willibrand disease testing
- Normal initial testing:
- Some cases of haemophilia
- Factor XIII deficiency and other fibrinolytic disorders
- Platelet function disorders - ruled out by prolonged Bleeding Time (BT)
- Vascular purpuras
- Bleeding of unknown cause
Additional selective testing
- International Normalised Ratio (INR)
- Specific clotting factor and inhibitor assay
- Platelet function testing
- Thrombin time and reptilase time
- Antiphospholipid antibodies
- Factor XIII activity testing
- D-dimer and Fibrin Degradation Products (FDPs) assays
- Other investigations such as renal function test, liver function test.
- Resuscitation
- Treat the underlying cause
- Restore normal hemostasis with replacement therapy:
- Platelet infusion, factor concentrate, fresh frozen plasma, cryoprecipitate
- Fresh whole blood (15–20ml/kg)
- Antifibrinolytic: tranexamicpatied
- Human protein concentrate
Even in a stable patient, bleeding disorders should always be considered life-threatening as they can
decompensate rapidly into massive bleeding or bleeding into a vital organ or body cavity. Adequate
understanding is required to evaluate and make diagnostic and therapeutic decisions rapidly.
A 6-year-old boy from a rural village in Northern Kenya, presented with a 6-month history of
unexplained bruising, prolonged bleeding after minor injuries, and a recent episode of
persistent nose bleeding. He also experienced joint pain and swelling, particularly in his
knees and ankles. A family history revealed that his older brother had similar symptoms
before dying at age 2.
Physical examination showed multiple bruises, joint swelling, and pallor. Laboratory tests
indicated anaemia, a low platelet count, and prolonged clotting times. Based on his
symptoms and history, he was diagnosed with Hemophilia A, a genetic bleeding disorder.
He was referred for factor VIII replacement therapy, and his family was educated on
managing the condition.
1. Robbins and Cotran Pathologic Basis of Disease 9th edition; chapter 4- haemodynamics disorder; chapter 14- Red blood cell and bleeding disorder.
2. Up-to-date- Approach to the child with bleeding disorders.
3. Nelson Textbook of Paediatrics 21st edition; chapter 495- Diseases of the Blood.
4. Victor A.H. Hoffbrand, Essential Haematology (2016) 7 th edition, Wiley Blackwell, West Sussex.
5. National Institute of Health, British Journal on Haematology 2021, 192, 803-818.
Author's details
Reviewer's details
Bleeding Disorders in Children
Bleeding disorders are a group of conditions (Inherited or acquired) that share a problem with the body’s blood clotting process. They can be classified as disorders of primary haemostasis (quantitative/qualitative platelet dysfunction or vasculopathy), secondary haemostasis (low concentration/activity of coagulation factors) or both. Acquired disorders are more common than inherited causes. The interplay between coagulation and fibrinolytic systems ensures that blood remains in its fluidity state within the blood vessels.
- Trauma/Injury bleeds- bruising, prolonged bleeding.
- Skin bleeds- petechiae, purpura, ecchymosis.
- Mucosal bleeds- epistaxis, oral bleeding.
- Tissue bleeds- muscle bleeds, joint bleeds (haemarthrosis).
- Life-threatening bleeds- intracranial haemorrhage
History
In evaluating children with bleeding disorders, the following information is essential towards arriving at a diagnosis: age of onset, duration of bleeding, site of bleeding, the severity of bleeding, obvious cause e.g. trauma versus spontaneous, past medical history of bleeding e.g. post-circumcision bleeding, family history of bleeding disorder in parents, uncles or siblings, medication history, and the sex of the patient. Bleeding questionnaires should be completed.
1. Abnormal blood count:
a. Pancytopaenia – myeloproliferative diseases, aplastic anaemia, folate/B12 deficiency
b. Thrombocytopaenia – ITP, TTP, HUS, DIC, SLE
2. Abnormal coagulation tests:
a. PTT prolonged/PT normal – Haemophilia, von Willibrand disease
b. PT prolonged/aPTT normal – Factor VII deficiency (rare)
c. Both PT and aPTT are prolonged:
i. Well child – ITP, vitamin K deficiency
ii. Sick child – liver disease, renal disease, consumptive coagulopathies.
3. Abnormal von Willibrand disease testing.
4. Normal initial testing:
a. Some cases of haemophilia
b. Factor XIII deficiency and other fibrinolytic disorders
c. Platelet function disorders – ruled out by prolonged Bleeding Time (BT)
d. Vascular purpuras
e. Bleeding of unknown cause
Additional selective testing
1. International Normalised Ratio (INR)
2. Specific clotting factor and inhibitor assay
3. Platelet function testing
4. Thrombin time and reptilase time
5. Antiphospholipid antibodies
6. Factor XIII activity testing
7. D-dimer and Fibrin Degradation Products (FDPs) assays
8. Other investigations such as renal function test, liver function test.
Resuscitation
Treat the underlying cause
Restore normal hemostasis with replacement therapy:
– Platelet infusion, factor concentrate, fresh frozen plasma, cryoprecipitate
– Fresh whole blood (15–20ml/kg)
– Antifibrinolytic: tranexamicpatied
– Human protein concentrate
1. Robbins and Cotran Pathologic Basis of Disease 9th edition; chapter 4- haemodynamics disorder; chapter 14- Red blood cell and bleeding disorder.
2. Up-to-date- Approach to the child with bleeding disorders.
3. Nelson Textbook of Paediatrics 21st edition; chapter 495- Diseases of the Blood.
4. Victor A.H. Hoffbrand, Essential Haematology (2016) 7 th edition, Wiley Blackwell, West Sussex.
5. National Institute of Health, British Journal on Haematology 2021, 192, 803-818.
Content
Author's details
Reviewer's details
Bleeding Disorders in Children
Background
Bleeding disorders are a group of conditions (Inherited or acquired) that share a problem with the body’s blood clotting process. They can be classified as disorders of primary haemostasis (quantitative/qualitative platelet dysfunction or vasculopathy), secondary haemostasis (low concentration/activity of coagulation factors) or both. Acquired disorders are more common than inherited causes. The interplay between coagulation and fibrinolytic systems ensures that blood remains in its fluidity state within the blood vessels.
Symptoms
- Trauma/Injury bleeds- bruising, prolonged bleeding.
- Skin bleeds- petechiae, purpura, ecchymosis.
- Mucosal bleeds- epistaxis, oral bleeding.
- Tissue bleeds- muscle bleeds, joint bleeds (haemarthrosis).
- Life-threatening bleeds- intracranial haemorrhage
Clinical findings
History
In evaluating children with bleeding disorders, the following information is essential towards arriving at a diagnosis: age of onset, duration of bleeding, site of bleeding, the severity of bleeding, obvious cause e.g. trauma versus spontaneous, past medical history of bleeding e.g. post-circumcision bleeding, family history of bleeding disorder in parents, uncles or siblings, medication history, and the sex of the patient. Bleeding questionnaires should be completed.
Differential diagnoses
1. Abnormal blood count:
a. Pancytopaenia – myeloproliferative diseases, aplastic anaemia, folate/B12 deficiency
b. Thrombocytopaenia – ITP, TTP, HUS, DIC, SLE
2. Abnormal coagulation tests:
a. PTT prolonged/PT normal – Haemophilia, von Willibrand disease
b. PT prolonged/aPTT normal – Factor VII deficiency (rare)
c. Both PT and aPTT are prolonged:
i. Well child – ITP, vitamin K deficiency
ii. Sick child – liver disease, renal disease, consumptive coagulopathies.
3. Abnormal von Willibrand disease testing.
4. Normal initial testing:
a. Some cases of haemophilia
b. Factor XIII deficiency and other fibrinolytic disorders
c. Platelet function disorders – ruled out by prolonged Bleeding Time (BT)
d. Vascular purpuras
e. Bleeding of unknown cause
Additional selective testing
1. International Normalised Ratio (INR)
2. Specific clotting factor and inhibitor assay
3. Platelet function testing
4. Thrombin time and reptilase time
5. Antiphospholipid antibodies
6. Factor XIII activity testing
7. D-dimer and Fibrin Degradation Products (FDPs) assays
8. Other investigations such as renal function test, liver function test.
Treatment
Resuscitation
Treat the underlying cause
Restore normal hemostasis with replacement therapy:
– Platelet infusion, factor concentrate, fresh frozen plasma, cryoprecipitate
– Fresh whole blood (15–20ml/kg)
– Antifibrinolytic: tranexamicpatied
– Human protein concentrate
Further readings
1. Robbins and Cotran Pathologic Basis of Disease 9th edition; chapter 4- haemodynamics disorder; chapter 14- Red blood cell and bleeding disorder.
2. Up-to-date- Approach to the child with bleeding disorders.
3. Nelson Textbook of Paediatrics 21st edition; chapter 495- Diseases of the Blood.
4. Victor A.H. Hoffbrand, Essential Haematology (2016) 7 th edition, Wiley Blackwell, West Sussex.
5. National Institute of Health, British Journal on Haematology 2021, 192, 803-818.
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