Eisenmenger Syndrome, Polycythaemia and a Self-Requested Phlebotomy
A 34-year-old man with an unrepaired perimembranous ventricular septal defect and Eisenmenger syndrome attends clinic with two weeks of headache, blurred vision and fatigue. He also reports one episode of 30 mL of hemoptysis. Room-air saturation is 86% (baseline 87%), hemoglobin 19.8 g/dL, hematocrit 60%, mean corpuscular volume 72 fL, ferritin 12 ng/mL and platelet count 110 × 10⁹/L. He takes bosentan and tadalafil, has never been anticoagulated, and lives at sea level. He restricts fluid to 1 L daily because of a fear of swelling and has booked a therapeutic phlebotomy at a local blood bank because 'my blood is too thick'.
1. Should he have the phlebotomy? Justify your answer physiologically.
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No - cancel it.
- The haematocrit is compensatory. Chronic hypoxaemia drives erythropoiesis; haematocrits of 55–65% are expected in Eisenmenger syndrome and are usually well tolerated.
- Phlebotomy is reserved for moderate-to-severe hyperviscosity symptoms with haematocrit above roughly 65%, and only with isovolumic replacement. It is never used to normalize a number: removing red cell mass reduces oxygen delivery, can precipitate hypotension and stroke, and produces rebound erythrocytosis.
- His iron deficiency is the real problem. Ferritin 12 ng/mL and mean corpuscular volume 72 fL mean his circulating red cells are microcytic and rigid. Iron-deficient erythrocytes raise viscosity at any given haematocrit and impair oxygen unloading - treating the deficiency lowers viscosity without removing blood.
- His symptoms are non-specific. Headache, blurred vision and fatigue occur with hyperviscosity, with iron deficiency, and with chronic hypoxaemia; the haematocrit alone does not distinguish them.
Plan: cancel the appointment, replete iron (oral with vitamin C, or intravenous if malabsorption), encourage adequate hydration and explain why his self-imposed 1 L restriction is harmful. Reassess symptoms in 6–8 weeks.
2. How do you evaluate the hemoptysis, and what must you avoid doing?
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Evaluate: contrast computed tomography of the chest and pulmonary vasculature to look for hypertrophied bronchial arteries, pulmonary arterial thrombus in situ, pulmonary infarction, and to exclude infection or a mass. Bronchoscopy if the source is unclear or bleeding recurs. Quantify the bleeding - 30 mL is minor, but it is a warning sign in a patient in whom massive haemoptysis is a leading cause of death.
Avoid:
- Empirical anticoagulation. Hemoptysis is not an indication for anticoagulation, and in-situ thrombus in Eisenmenger syndrome is usually a consequence of pulmonary vascular disease rather than an embolic event. Anticoagulate only for a discrete indication, and even then weigh the bleeding risk carefully.
- Systemic vasodilators that are not pulmonary-selective - they worsen the right-to-left shunt and precipitate syncope.
- Volume depletion and diuresis without clear congestion, which reduce preload in a fixed-output circulation.
- Treating hemoptysis as proof that phlebotomy is needed.
If bleeding becomes massive or recurrent, bronchial artery embolization is the definitive therapy; balloon tamponade of a bleeding lobar bronchus is a temporizing rescue. Escalate to a centre that manages adult congenital heart disease and pulmonary hypertension together.
3. Design a long-term plan covering laboratory monitoring, therapy, preventive care and goals of care.
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Laboratory: complete blood count, ferritin and iron saturation every 3–6 months, aiming to correct iron deficiency without over-transfusing; uric acid and renal function; brain natriuretic peptide.
Therapy: continue endothelin receptor antagonist plus phosphodiesterase-5 inhibitor; assess with six-minute walk, functional class and echocardiography every 6–12 months, and consider adding a prostacyclin-pathway agent if he deteriorates. Maintain hydration and avoid nephrotoxins and non-steroidal anti-inflammatory drugs.
Preventive care: endocarditis prophylaxis for dental procedures; influenza, pneumococcal and other appropriate vaccinations; caution with sustained high altitude and a plan for air travel; supervised moderate exercise but no heavy isometric straining; strict avoidance of pregnancy in a female patient - for him, contraception is not the issue but his partner counselling and genetic discussion may be.
Anticipatory guidance: teach him to call early for hemoptysis, syncope or worsening breathlessness, because these herald the terminal events. Discuss prognosis frankly, name heart–lung or lung transplantation with repair as rarely available options, and document goals of care and a surrogate decision-maker while he is stable. Continuity matters more than any single test here.