1. PULMONOLOGY Dr W.K. Herbst Dr J. Nel 9/04/2010

2. HISTORY Mrs.M 32 yr female from Kroonstad Referred from Hematology with Polycythaemia

3. RESPIRATORY HISTORY Progressive DYSPNEA since June 2009 Platypnea No symptoms suggestive of infection No embolic phenomena No hyperviscosity symptoms

4. RESPIRATORY HISTORY Platypnea Increase in dyspnea induced by the upright position and relieved by recumbency Increase in dyspnea induced by the upright position and relieved by recumbency Associated with orthodeoxia Associated with orthodeoxia Decrease in blood flow through PAVM in the dependent portions of the lungs upon assuming the supine position Decrease in blood flow through PAVM in the dependent portions of the lungs upon assuming the supine position Other causes Other causes Hepatopulmonary syndrome Atrial septal defects (including patent foramen ovale)

5. EXAMINATION ClubbedCyanoticCVS No signs of pulmonary hypertension No signs of pulmonary hypertension Respiratory: normal Abdominal: normal Neuro: normal

6. LAB RESULTS LAB RESULTS FULL BLOOD COUNT & PLATELETS Flags Ref Ranges White Cell Count............. 4.02 x 10^9/l 4.00 - 10.00 White Cell Count............. 4.02 x 10^9/l 4.00 - 10.00 Red Cell Count............... 8.25 x 10^12/l H 4.13 - 5.67 Red Cell Count............... 8.25 x 10^12/l H 4.13 - 5.67 Haemoglobin.................. 24.0 g/dl H 12.1 - 16.3 Haemoglobin.................. 24.0 g/dl H 12.1 - 16.3 Haematocrit.................. 0.701 l/l H 0.370 - 0.490 Haematocrit.................. 0.701 l/l H 0.370 - 0.490 MCV.......................... 85.0 fl 79.1 - 98.9 MCV.......................... 85.0 fl 79.1 - 98.9 MCH.......................... 29.1 pg 27.0 - 32.0 MCH.......................... 29.1 pg 27.0 - 32.0 MCHC......................... 34.2 g/dL 32.0 - 36.0 MCHC......................... 34.2 g/dL 32.0 - 36.0 Platelets.................... 189 x 10^9/l 178 - 400 Platelets.................... 189 x 10^9/l 178 - 400 MORPHOLOGY AND COMMENT RED CELL MORPHOLOGY.......... Polycythaemia RED CELL MORPHOLOGY.......... Polycythaemia RETICULOCYTE STUDIES Flags Ref Ranges Reticulocyte Count........... 2.38 % H 0.50 - 2.00 Reticulocyte Count........... 2.38 % H 0.50 - 2.00 Absolute Reticulocyte Count.. 0.196 10^12/l H 0.050 - 0.100 Absolute Reticulocyte Count.. 0.196 10^12/l H 0.050 - 0.100 Haematocrit.................. 0.701 l/l H 0.370 - 0.490 Haematocrit.................. 0.701 l/l H 0.370 - 0.490 Reticulocyte Production Index 3.7 Reticulocyte Production Index 3.7

7. BLOOD GAS BLOOD GAS ANALYSIS pH 7.40 7.37 - 7.43 pH 7.40 7.37 - 7.43 pCO2......................... 32.00 mmHg L 35.00 - 45.00 pCO2......................... 32.00 mmHg L 35.00 - 45.00 pCO2......................... 4.26 kPa L 4.65 - 5.98 pCO2......................... 4.26 kPa L 4.65 - 5.98 pO2.......................... 41.5 mmHg L 69.0 - 84.0 pO2.......................... 41.5 mmHg L 69.0 - 84.0 pO2.......................... 5.52 kPa L 9.05 - 11.17 pO2.......................... 5.52 kPa L 9.05 - 11.17 Standard Bicarbonate (SBC)...20.6 mmol/l 20.0 - 25.0 Standard Bicarbonate (SBC)...20.6 mmol/l 20.0 - 25.0 Base Excess.................. -3.8 mmol/l L -2.0 - 3.0 Base Excess.................. -3.8 mmol/l L -2.0 - 3.0 O2 Saturation................ 78 % L 95 – 98 O2 Saturation................ 78 % L 95 – 98 NO IMPROVEMENT ON OXYGEN NO IMPROVEMENT ON OXYGEN

8. PROBLEM 1. Hypoxia Not improving on Oxygen therapy 2. Polycythaemia 3. Clubbing

9. HYPOXEMIA

10. CXR

11. VENTILATION PERFUSION Left lung base shows perfusion and ventilation defect Structural lung disease Structural lung disease Kidneys clearly visible in perfusion study SUGGESTIVE OF UNDERLYING SHUNT

12. HRCT CHEST Loss of volume left hemithorax Tortious ectatic tubular structures left lung base

13. CT PULMONARY ANGIOGRAM Multiple dilated tortious vessels of LLL Clear feeding artery from left pulmonary artery Clear draining vein to left pulmonary vein Large left pulmonary AV fistula Large left pulmonary AV fistula

14. 3-D RECONSTRUCTION

15. Pulmonary arteriovenous malformations (PAVMs) First described 1897 Abnormal communications between pulmonary arteries and veins Differential diagnosis of Hypoxemia Pulmonary nodules Hemoptysis

16. PAVMs Fairly uncommon Annual incidence of 4.3 cases/year at a large medical center Annual incidence of 4.3 cases/year at a large medical center Twice as often women as in men Incidence increases in fifth and sixth decades 70% associated with hereditary hemorrhagic telangiectasia (HHT/ Osler-Weber-Rendu syndrome) 30 percent of patients with HHT have PAVM

17. CLINICAL MANIFESTATIONS SYMPTOMS Epistaxis Epistaxis Dyspnea Dyspnea Hemoptysis Hemoptysis Platypnea Platypnea SIGNS HHT Telangiectasis Bruit Clubbing Cyanosis

18. Diagnostic modalities

19. WHY TREAT ???

20. COMPLICATIONS COMPLICATIONS Stroke/ TIA/ Brain abscess Paradoxic embolization Paradoxic embolization Migraine headache HypoxemiaPolycythemiaAnemia Exercise intolerance Hemoptysis and hemothorax PHT Rare Rare Congestive heart failure Infective endocarditis If HHT Epistaxis Epistaxis GIT bleeding GIT bleeding Skin bleeds Skin bleeds

21. TREATMENT TREATMENT Indications include Progressive enlargement of lesions Progressive enlargement of lesions Paradoxic embolization Paradoxic embolization Symptomatic hypoxemia Symptomatic hypoxemia Treating all PAVMs that can be technically embolized

22. TREATMENT Surgery Local excision and lobectomy Local excision and lobectomy Pneumonectomy Pneumonectomy Vascular ligation Vascular ligation Embolization Angiographic occlusion of feeding arteries to a PAVM

23. OUR PATIENT Microscopy results Vascular lesion Consisting of abnormally shaped arteries and venules many with very large diameter Abnormal distribution of the bronchiolis and bronchi Suggesting a congenital etiology Lesion originates from a single artery and draining vein Features suggests Arteriovenous malformation Arteriovenous malformation

24. CHEST X RAY POST SURGERY

25. OUR PATIENT Follow up in 1 month at clinic Hypoxia Polycythaemia

26. REFERENCES Uptodate.com Harrison’s Online Copyright 2004-2005 Chowdhury UK, Kothari SS, Bishnoi AK, Gupta R, Mittal CM, Reddy S (February 2008). "Successful Lobectomy for Pulmonary Arteriovenous Malformation Causing Recurrent Massive Haemoptysis". Heart Lung Circ."Successful Lobectomy for Pulmonary Arteriovenous Malformation Causing Recurrent Massive Haemoptysis" Bernstein D. Other Congenital Heart and Vascular Malformations. In: Kliegman RM, Behrman RE, Jenson HB, Stanton BF, eds. Nelson Textbook of Pediatrics. 18th ed. Philadelphia, Pa: Saunders Elsevier; 2007: chap 432 Cottin V, Chinet T, Lavolé A, et al. Pulmonary arteriovenous malformations in hereditary hemorrhagic telangiectasia: a series of 126 patients. Medicine (Baltimore). Jan 2007