What is the appropriate workup for a 28-year-old female presenting with bruising and shortness of breath?

Diagnostic Workup for Bruising and Shortness of Breath in a 28-Year-Old Female

The appropriate workup for a 28-year-old female presenting with bruising and shortness of breath should begin with chest radiography and complete blood count, followed by targeted testing based on the most likely diagnoses including pulmonary embolism, hematologic disorders, and cardiac conditions. 1

Initial Evaluation

History - Focused Assessment

• Bruising characteristics:

  • Onset, location, extent, and pattern of bruising
  • Spontaneous vs. trauma-related bruising
  • Associated bleeding from other sites (gums, nose, menstrual)

• Shortness of breath characteristics:

  • Onset (sudden vs. gradual)
  • Duration and progression
  • Triggers (exertion, position, time of day)
  • Associated symptoms (chest pain, palpitations, cough)
  • Description of sensation (chest tightness, air hunger, effort) 1

Physical Examination

• Vital signs (including oxygen saturation)
• Cardiopulmonary examination (heart sounds, murmurs, lung fields)
• Skin examination (extent and pattern of bruising, petechiae)
• Lymph node examination
• Abdominal examination (hepatosplenomegaly)

First-Line Diagnostic Tests

1. Complete Blood Count (CBC) with peripheral smear

   • Essential to evaluate for thrombocytopenia, anemia, or leukemia
   • Peripheral smear to assess platelet morphology and presence of abnormal cells

2. Coagulation studies

   • PT/INR, aPTT, fibrinogen, D-dimer
   • Evaluate for coagulopathy and potential pulmonary embolism

3. Chest radiography

   • First imaging test to identify pulmonary causes, cardiomegaly, or pleural effusions 1

4. 12-lead ECG

   • To assess for cardiac causes of dyspnea 2, 1

5. Basic metabolic panel and liver function tests

   • To evaluate for metabolic causes and assess liver function

Second-Line Diagnostic Tests (Based on Initial Results)

If Pulmonary Embolism is Suspected

• D-dimer (if not already obtained)
• CT Pulmonary Angiography (CTPA)
  • Gold standard for diagnosing pulmonary embolism 3
• Ventilation/Perfusion (V/Q) Scan
  • Alternative if CTPA is contraindicated 1

If Hematologic Disorder is Suspected

• Additional coagulation studies
  • von Willebrand factor, factor assays
• Bone marrow aspiration and biopsy
  • If leukemia or other bone marrow disorder is suspected
• Flow cytometry
  • To evaluate for leukemia or lymphoma

If Cardiac Cause is Suspected

• Transthoracic Echocardiography (TTE)
  • To evaluate cardiac structure and function 1
• BNP/NT-proBNP
  • To assess for heart failure 1
• Cardiac troponins
  • To evaluate for myocardial injury 2

If Pulmonary Cause is Suspected

• Pulmonary Function Tests (PFTs)
  • To evaluate for obstructive or restrictive lung disease 1
• High-Resolution CT of the Chest
  • If interstitial lung disease is suspected 1

Diagnostic Algorithm

1. Initial assessment:

   • CBC, coagulation studies, chest X-ray, ECG
   • If these tests reveal abnormalities, proceed with targeted testing

2. If bruising is the predominant feature:

   • Focus on hematologic workup (platelet count, coagulation factors)
   • Consider von Willebrand disease, immune thrombocytopenia, or leukemia

3. If shortness of breath is the predominant feature:

   • With normal initial tests: proceed with PFTs, consider CPET
   • With abnormal chest X-ray: proceed with HRCT chest
   • With abnormal ECG or cardiac concern: proceed with echocardiography

4. If both symptoms are equally concerning:

   • Prioritize ruling out pulmonary embolism with D-dimer and CTPA
   • This combination of symptoms strongly suggests possible thromboembolic disease 3

Common Pitfalls to Avoid

1. Failing to consider pulmonary embolism in a young female with unexplained shortness of breath and bruising, especially if on hormonal contraceptives

2. Attributing bruising to trauma without investigating underlying hematologic disorders

3. Not considering exercise-induced bronchoconstriction in patients with normal resting studies 1

4. Overlooking psychological causes like anxiety or panic disorder when organic causes are ruled out 1

5. Missing multifactorial etiology - up to one-third of cases of dyspnea have multiple contributing causes 1

By following this systematic approach, clinicians can efficiently diagnose the cause of bruising and shortness of breath in a young adult female, ensuring that potentially serious conditions are not missed while avoiding unnecessary testing.