What is the diagnostic and treatment approach for suspected systemic causes of bleeding in children?

Diagnostic and Treatment Approach for Systemic Causes of Bleeding in Children

The evaluation of a child with suspected systemic bleeding disorder should begin with a full blood examination (FBE) as the most appropriate initial investigation, followed by specific coagulation tests based on clinical presentation and initial results. 1

Initial Evaluation

History and Physical Examination Elements

• Assess pattern of bruising/bleeding - bruising in unusual locations (trunk, ears, neck) or multiple planes of the body suggests potential abuse, while bruising over bony prominences is more typical of normal childhood activity 2, 1
• Family history of bleeding disorders increases likelihood of an inherited condition 2
• "Classic" bleeding symptoms such as bleeding after circumcision, joint hemorrhage (hemarthrosis), or excessive soft tissue bleeding suggest specific bleeding disorders 2
• Evaluate for joint hypermobility using the Beighton Score, as benign hypermobility syndromes can be associated with abnormal bleeding and platelet function 3

Laboratory Testing Algorithm

• Start with Full Blood Examination (FBE) to assess platelet count, morphology, and other cell lines 1
• Initial screening tests should include:
  • Prothrombin Time (PT) 2, 4
  • Activated Partial Thromboplastin Time (aPTT) 2, 4
  • Fibrinogen level 2
  • Consider platelet function analyzer (PFA-100) for platelet function assessment 2

Diagnostic Approach Based on Clinical Presentation

For Bruising/Cutaneous Bleeding

• Initial screening panel should evaluate for conditions with prevalence more common than 1 per 500,000 people 2:
  • Immune thrombocytopenia (ITP) - assess with platelet count 2
  • Factor deficiencies (except Factor XIII) - assess with PT/aPTT 2
  • von Willebrand Disease (VWD) - most common inherited bleeding disorder 2, 5

For Intracranial Hemorrhage (ICH)

• More extensive evaluation is warranted due to severity 2
• Consider probability of specific bleeding disorders causing ICH 2:
  • Factor VIII deficiency (hemophilia A) - probability 1/50,000 males 2
  • Factor IX deficiency (hemophilia B) - probability 1/200,000 males 2
  • Factor X deficiency - probability 1/5 million 2
• Consider vascular imaging (4-vessel cerebral angiography) for unexplained ICH to identify potential vascular malformations 2

Treatment Approach

Immediate Management

• Stabilize patient with supportive care (respiratory support, blood pressure control, seizure prevention) 2
• Correct coagulation abnormalities based on specific deficiency identified 5

Specific Treatments

• For hemophilia A with factor VIII levels >5%: Desmopressin acetate injection (4 mcg/mL) administered 30 minutes prior to procedures or to stop bleeding episodes 6
• For von Willebrand Disease (Type I): Desmopressin acetate injection for patients with mild to moderate disease with factor VIII levels >5% 6
• For rare bleeding disorders: Specific purified plasma-derived or recombinant factor concentrates are preferred over fresh frozen plasma or cryoprecipitate 5

Special Considerations

Child Abuse Evaluation

• The presence of a bleeding disorder does not rule out abuse - both conditions can coexist 2, 1
• In children with bruising and laboratory testing suggestive of a bleeding disorder, follow-up evaluation after a change in home setting can provide valuable information 2
• Consider consultation with a pediatric hematologist if specific, expanded testing is necessary or if preliminary testing suggests a bleeding disorder 2

Rare Bleeding Disorders

• Consider testing for extremely rare conditions only when more common disorders have been ruled out 2, 5:
  • Factor XIII deficiency (not detected by routine coagulation tests) 2, 5
  • Defects of fibrinogen 2, 5
  • Fibrinolytic defects 2, 5
  • Rare platelet disorders such as Glanzmann thrombasthenia 2

Follow-up Management

• Monitor bleeding time and factor levels during treatment to ensure adequate levels are being achieved 6
• Consider prophylaxis for children with recurrent serious bleeding, particularly after life-threatening episodes 5
• Close collaboration with a pediatric hematologist is necessary to ensure the most current evaluation and testing methods 2

Common Pitfalls to Avoid

• Delaying screening for bleeding disorders in children who have received blood product transfusions (wait until elimination of transfused blood clotting elements) 2
• Attributing all unexplained bruising to a bleeding disorder without considering potential abuse 2, 1
• Testing for extremely rare conditions before ruling out more common disorders 2, 7
• Failing to consider the step-wise approach to platelet function testing, which is time-consuming but necessary for diagnosis of platelet function disorders 3