How to diagnose pulmonary hypertension?

Diagnosing pulmonary hypertension (PH) involves a combination of medical history, physical examination, imaging studies, and specialized tests. Here’s an outline of the key steps:

  1. Medical History and Physical Exam
    • Symptoms: Patients with PH often present with symptoms like shortness of breath, fatigue, chest pain, dizziness, and swelling in the legs or abdomen.
    • Physical Signs: A physician may detect abnormal heart sounds, such as a loud P2 (a component of the second heart sound), signs of right-sided heart failure (e.g., jugular venous distension), or hepatomegaly.
  2. Imaging Tests
    • Echocardiography (Echo): This is typically the first test. It estimates pulmonary artery pressures, assesses right heart function, and checks for structural abnormalities that might suggest PH.
    • Chest X-Ray: It can show enlarged pulmonary arteries and right heart enlargement, though it’s not definitive for diagnosis.
    • CT or MRI of the Chest: These may be used to get a clearer view of the heart and lung structures.
  3. Pulmonary Function Tests (PFTs)
    • These tests assess lung function to determine if any underlying lung disease might be contributing to or causing the PH.
  4. Blood Tests
    • BNP or NT-proBNP: Elevated levels of these biomarkers can suggest heart strain, often seen in PH.
    • Autoimmune and Liver Function Tests: These can help detect diseases associated with PH, like connective tissue disorders or liver disease.
  5. Right Heart Catheterization (RHC)
    • Gold Standard: This invasive test directly measures the pulmonary artery pressure, confirming the diagnosis and helping assess severity. It’s essential to distinguish PH from other conditions and to guide treatment.
  6. Exercise Testing
    • Six-Minute Walk Test or Cardiopulmonary Exercise Testing can be used to gauge exercise tolerance, which may help in assessing PH severity and tracking treatment response.
  7. Sleep Study (Polysomnography)
    • To rule out sleep apnea as a cause, since it is a treatable risk factor for PH.
  8. Diagnostic Criteria
    • Pulmonary Artery Mean Pressure (mPAP): PH is diagnosed when mPAP is ≥20 mmHg at rest as measured by right heart catheterization.
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