Cough and Lower Limb Swelling

Clinical Vignette

A 67-year-old woman presents with shortness of breath, persistent productive cough and swelling of her lower limbs. She has been referred to the respiratory clinic for further assessment. Please examine her respiratory system.

Positive Findings

  • General: Lower limb swelling, non-pitting.
  • Hands: Yellowish discolouration and abnormal curvature of nails with cuticle loss.
  • Chest Examination:
    • Bilaterally decreased chest expansion with stony dull percussion at the lung bases.
    • Absent breath sounds and reduced vocal fremitus at the lung bases.
    • Coarse inspiratory crackles in midzones which move with coughing.

Relevant Negative Findings

  • No signs of respiratory distress, no cyanosis, no asterixis.
  • No raised JVP or signs of cor pulmonale (e.g. no displaced apex beat, no murmurs).
  • No evidence of lymphadenopathy.

What is the most likely diagnosis?

Yellow Nail Syndrome giving rise to bronchiectasis and bilateral pleural effusions.

What is your differential diagnosis?

  • Pleural Effusion Differential:
    • Transudative: Heart failure, renal failure, liver cirrhosis.
    • Exudative: Malignancy, parapneumonic effusion, tuberculosis.
  • Lymphoedema Differential:
    • Congenital: Familial lymphoedema.
    • Acquired: Infection (e.g. filariasis), pelvic masses causing lymphatic obstruction, iatrogenic (e.g. post-surgical).
  • Alternative Nail Pathologies:
    • Fungal infection: Could explain nail discolouration but would be unrelated to respiratory symptoms.

How would you investigate this patient?

  • Pleural Effusion Analysis:
    • Thoracocentesis: Fluid analysis typically shows clear, lymphocyte-rich fluid with elevated protein and LDH, characteristic of effusions in yellow nail syndrome.
  • Investigation of Bronchiectasis:
    • High-resolution CT (HRCT): Confirms bronchiectasis with bronchial wall thickening and “signet ring” appearance.
    • Sputum culture: To identify pathogens, particularly Pseudomonas aeruginosa.
    • Spirometry: Likely shows an obstructive pattern.
  • Assessment of Lymphoedema:
    • Ultrasound of abdomen: Rules out liver cirrhosis and any pelvic masses causing lymphatic obstruction.
    • Referral to vascular surgery: Specialist lymphatic imaging to evaluate primary lymphoedema.
  • Further Blood Tests:
    • Renal and liver function tests: To exclude liver cirrhosis and nephrotic syndrome as causes of oedema.
    • Urine proteinratio: To screen for proteinuria that could suggest nephrotic syndrome.
    • ECG and echocardiogram: To rule out heart failure as a cause of pleural effusions and oedema.
  • Nail Investigation:
    • Nail scrapings: To rule out fungal infection.

How would you manage this patient?

  • Specialist Referral:
    • Referral to a respiratory specialist with expertise in yellow nail syndrome for guidance on managing this rare condition.
    • Specialist vascular surgery input for further lymphatic investigations and management of lymphoedema.
  • Management of Respiratory Symptoms:
    • Pleural effusion management: If effusion is causing significant symptoms, thoracocentesis for relief and ongoing monitoring.
    • Physiotherapy: Airway clearance techniques for bronchiectasis, including postural drainage and oscillating PEP devices.
    • Antibiotics: For treatment of acute infective exacerbations, with a focus on antipseudomonal coverage if Pseudomonas aeruginosa is present.
    • Long-term antibiotics: Consider long-term macrolides or nebulised antibiotics for recurrent bronchiectasis infections.
  • Monitoring and Supportive Care:
    • Nutritional support: To prevent cachexia and support immune function.
    • Compression therapy for lymphoedema if tolerated, and regular monitoring of limb swelling.
  • Patient Education:
    • Discussion of the chronic nature of yellow nail syndrome and its association with respiratory and lymphatic issues.
    • Emphasise the importance of regular follow-up for respiratory and lymphatic symptoms.

Viva Questions

  • What is Yellow Nail Syndrome (YNS)?
    • A rare condition caused by impaired lymphatic drainage and characterised by the triad of yellow, thickened nails with slow growth, lymphoedema (often of the limbs), and respiratory disease (such as bronchiectasis or pleural effusions).
  • How is YNS diagnosed?
    • It is primarily a clinical diagnosis based on the classic triad of nail changes, lymphoedema, and respiratory involvement. Laboratory and imaging investigations support the diagnosis by excluding other causes.
  • What are the common respiratory manifestations of YNS?
    • Pleural effusions (often bilateral), bronchiectasis, and sometimes chronic rhinosinusitis.
  • What is the differential diagnosis for pleural effusions in a patient with YNS?
    • Transudative causes include heart failure, renal failure, and liver cirrhosis. Exudative causes include infections, malignancy, and connective tissue diseases.
  • How is lymphoedema in YNS managed?
    • Lymphoedema management includes compression therapy, physiotherapy, and, in some cases, referral to vascular surgery for specialised lymphatic investigation and care.
  • What are the potential complications associated with YNS?
    • Complications may include recurrent respiratory infections due to bronchiectasis, hypoxia from persistent pleural effusions, and chronic lymphoedema.
  • What would you advise regarding further specialist input?
    • Referral to a respiratory specialist for management of bronchiectasis and pleural effusions, and vascular surgery for management of lymphoedema, is recommended.