What is the appropriate evaluation and work‑up for a patient presenting with easy bruising?

Evaluation of Easy Bruising

Begin with a structured bleeding assessment tool to quantify symptom severity, followed by initial hemostasis laboratory tests (CBC with platelet count, PT/INR, aPTT, and peripheral blood smear), with the specific pattern of abnormalities directing subsequent specialized testing. 1

Clinical Assessment

Bleeding History Using Standardized Tools

• Use a validated bleeding assessment tool (BAT) to systematically evaluate symptom severity and identify patients requiring further investigation 1
• The ISTH Bleeding Assessment Tool helps determine whether bleeding symptoms are pathologic, though it has not been fully validated specifically for inherited platelet function disorders 1

Key Historical Elements to Elicit

• Mucocutaneous bleeding patterns: unexplained or extensive bruising, epistaxis, menorrhagia, bleeding during childbirth, post-surgical bleeding, and bleeding after dental extractions 1
• Family history of bleeding disorders is critical, especially in children who may not have experienced major bleeding episodes yet 2
• Medication review: identify drugs interfering with platelet function (NSAIDs, antiplatelet agents, anticoagulants) 1
• Associated symptoms: eczema, recurrent infections, or family history of myelodysplasia/acute myeloid leukemia 1

Physical Examination Findings

• Mucocutaneous bleeding (petechiae, purpura, gingival bleeding) suggests platelet dysfunction 2
• Hemarthroses or deep tissue hematomas indicate coagulopathy rather than platelet disorders 2
• Syndromic features: hearing loss, cardiac abnormalities, facial or bone dysmorphisms, ocular involvement, mental retardation, or skin discoloration may suggest specific inherited platelet function disorders 1
• Blood smear examination: altered platelet size/structure, stomatocytosis, or neutrophil inclusion bodies can suggest specific disorders 1

Initial Laboratory Testing

First-Line Hemostasis Tests

• Complete blood count with platelet count 1, 3
• Peripheral blood smear to assess platelet morphology and other cellular abnormalities 1
• Prothrombin time (PT) and INR 1, 3
• Activated partial thromboplastin time (aPTT) 1, 3
• Fibrinogen level (optional but recommended) 1

Interpretation of Initial Laboratory Results

Normal PT and aPTT with bleeding symptoms:

• Indicates likely platelet disorder (quantitative or qualitative) 3, 2
• Proceed to von Willebrand disease (VWD) screening, as VWD is the most common inherited bleeding disorder affecting up to 1% of the population 1, 2

Normal PT with prolonged aPTT:

• Suggests intrinsic pathway disorder (factors VIII, IX, XI, XII deficiency) 3, 2
• Perform mixing study (1:1 patient plasma with normal plasma) to distinguish factor deficiency from inhibitor 1
• If mixing study corrects immediately and after 2-hour incubation, factor deficiency is likely; if it doesn't correct, consider factor VIII inhibitor or lupus anticoagulant 1

Prolonged PT with normal aPTT:

• Indicates extrinsic pathway disorder (factor VII deficiency) 3, 2
• Consider vitamin K challenge in appropriate clinical context 2

Both PT and aPTT prolonged:

• Suggests common pathway defect, liver disease, or disseminated intravascular coagulation 2
• Workup for liver failure is warranted 2

Von Willebrand Disease Screening (When Platelet Disorder Suspected)

Initial VWD Assays

• VWF antigen (VWF:Ag) 1
• VWF ristocetin cofactor activity (VWF:RCo) 1
• Factor VIII coagulant activity 1
• Calculate VWF:RCo/VWF:Ag ratio to help classify VWD subtypes 1

Important Pre-analytical Considerations

• Blood group O individuals have VWF levels 25% lower than other ABO groups 1
• Acute/chronic inflammation, pregnancy, estrogen/oral contraceptives can falsely elevate VWF and factor VIII levels 1
• Atraumatic blood draw is essential; patient stress, crying, or recent exercise can elevate VWF levels 1
• Testing should be performed when patient is not acutely ill if possible 1

Specialized Testing for Inherited Platelet Function Disorders

When to Pursue IPFD Workup

• If initial hemostasis tests and VWF screening are normal but bleeding assessment tool indicates significant symptoms 1
• Mildly reduced platelet count should not exclude further IPFD testing, as several IPFDs are associated with thrombocytopenia 1

First-Step Specialized Tests

• Light transmission aggregometry (LTA) using epinephrine, ADP, collagen, arachidonic acid, and ristocetin 1
• Platelet granule release assays: ATP/ADP measurement (lumiaggregometry or HPLC) and α-granule markers 1
• Flow cytometry for major platelet surface glycoproteins (to detect Glanzmann thrombasthenia, Bernard-Soulier syndrome) 1

Common Pitfalls

• Defective response to epinephrine alone is frequent in routine screening and should only prompt further studies when other abnormalities or strong clinical suspicion are present 1
• Isolated decreased platelets may occur in VWD Type 2B 1

When to Refer to Hematology

Immediate consultation indicated for:

• Any abnormal initial laboratory results suggesting bleeding disorder 1
• Strong clinical suspicion despite normal initial workup 1, 2
• Need for specialized VWD studies: multimer distribution, collagen binding, RIPA platelet binding, FVIII binding, platelet VWF studies, or VWF gene sequencing 1
• Interpretation of complex or borderline results, especially in patients with VWF levels 30-50 IU/dL 1

Special Considerations

Non-Accidental Trauma

• Always consider in vulnerable populations (children, elderly, dependent adults) presenting with easy bruising 3

Acquired von Willebrand Syndrome

• Consider in patients with abnormal VWF results but no personal/family history consistent with hereditary VWD 1
• Associated with various medical conditions and mechanisms 1