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Pulmonary Telangiectasia without Hypoxemia
Pulmonary Telangiectasia without Hypoxemla* Michael! Uncoln,M.D.; and]ohn W. Shigeoka, M.D.
We describe an elderly patient with an unusual presentation of hereditary hemorrhagic telangiectasia (Bendu-OslerWeber disease) involving the lung. He had recurrent "pneumonia" caused by massive hemorrhage from endobronchial telangiectases. When stable, he was normoxic, had no evidence of right-to-Ieft shunting, and had mild pulmonary arterial hypertension. His pulmonary telangiectases may be isolated to the bronchial circulation. We report hemodynamic data and show the first photographs of endobronchial telangiectases.
H
ereditary hemorrhagic telangiectasia {Rendu-OslerWebers disease} is an inherited general dysplasia of small blood vessels and capillaries . The lung is involved in 15 percent of patients, 1 usually as aneurysms that may be seen on the chest radiograph or, less commonly, as telangiectases that are too small to be detected radiographically. Telangiectases usually produce hypoxemia that may be associated with cyanosis, clubbing, and polycythemia. We recently saw a patient who had unusual features of hereditary telangiectasia. He had mucosal and endobronchial telangiectases that bled and simulated recurrent pneumonia, yet he was normoxie when his illness was quiescent. We report the hemodynamic data and offer the first published photographs of endobronchial telangiectases. CASE REPORT A 79-year-old man was hospitalized for treatment of pneumococcal pneumonia after complaining of acute chest pain and cough productive of blood clots . His diagnosis was based on fever (38.3°C}, signs of right chest consolidation, leukocytosis, severe hypoxemia (PaD. of37 mm Hg), dense radiographic alveolar infiltrates in the right lung, and Gram-positive cocci in sputum. He had a history of mitral valve prolapse, angina, and transient ischemic attacks, but no anemia, gastrointestinal bleeding or epistaxis. There was no bruit or clubbing. The hematocrit (47 percent) and urinalysis were within normal limits. Because bleeding was not observed, the history of hemoptysis was ignored. He was hospitalized for treatment of pneumonia, with similar complaints noted two and 39 months previously. After two days of therapy, the chest was clear, the radiographic infiltrates had resolved almost completely, the PaD. was 43 mm Hg, and the hematocrit 39 percent On the sixth day, a consultant noted that similar rapid resolution of infiltrates occurred with the prior bouts of pneumonia. A lung scan showed diminished perfusion in the areas of the lung with residual infiltrates. Selective bilateral angiograms showed no thromboemboli or abnormal arteriovenous communications. The consultant discovered sublingual, labial, and oral telangiectases and recommended bronchoscopic examination. Nonbleeding telangiectases were seen in the posterior (but not anterior) nasopharynx, larynx, trachea, and bronchial tree (Fig 1 and 2). The endobronchial telangiectases were surrounded by prominent -From the Pulmonary Section, Veterans Administration Medical Center, and Department of Medicine, University of Utah School of Medicine, Salt Lake City. Supported in part by the Veterans Administration. Reprint requests: Dr. Shilr,eoka, VA Medical Center; 500 Foothill BlVd, Salt Lake City 84148
FIGURE 1. Fiberoptic bronchoscopic view of proximal bronchus intermedius; note prominent vascular pattern and faint blue blush
(arrow) .
vessels; some appeared as blue blushes, others as bright red spiders. Right heart catheterization showed mild pulmonary hypertension that increased with exercise, and a normal cardiac index \Illble 1). The indocyanine green dye curve was normal, and the oxygen saturation did not "step up." Technetium 99m macroaggregated albumin appeared normally in the lung and none appeared in the brain, liver, or kidneys.· After discharge, the PaD. was 61 mm Hg, the P(A-a)O. mm Hg, and the respiratory exchange ratio, 1.04 . Two years earlier, the po. was 55 mm Hg . In Salt Lake City (barometric pressure 640 mm Hg), the predicted PaD. for 80-year-old men is 64 mm Hg (lower normal limit, 52 mm Hg) and P(A-a)O. 14 mm Hg (upper normal limit, 27 mm Hg). Results of spirometry were normal, but the single breath
FIGURE2. Fiberoptic bronchoscopic view of distal bronchus intermedius; note bright red, spider-like lesion (this is not secondary to trauma). CHEST I 93 I 5 I MAY, 1988
1097
Table I-Hemodynamic Data Pressure in mm Hg (normal in parentheses)
Pulmonary wedge
Rest
2 (1-10) Exercise 8 Flows in Umin
Pulmonary artery
Right ventricle
44/15 (15-3014-12) 69/22
48/5 (15-30/0-8) 64/4
Oxygen consumption Rest 0.21 0.6 Exercise Resistances in mm HglUminlml Systemic resistance
Rest Exercise
41. 9 (9.6-18.75) 28.4
Cardiac
index 2.7 (2.5-4.2)
4.3
Pulmonary
resistance 8.9 (.25-1.5) 7.9
carbon monoxide diffusing capacity (11 mlIminlmm Hg), and the ratio of diflUsing capacity to alveolar volume (DIIVA) (2.8) were reduced. 11le physiologic shunt fraction using 100 percent oxygen was 5.8, 7.7, and 5.0 percent on separate occasions (normal less than 7 percent3~ DISCUSSION
This patient had the cardinal features of hereditary hemorrhagic telangiectasia, namely: multiple mucosal, cutaneous, and visceral telangiectases and bleeding. 1 A family history is not essential because the telangiectases may be inconspicuous or not appear in all relatives. 1 He had no condition associated with acquired telangiectases, eg, liver disease or trauma. The unusual features of this case, namely: the resemblance to pneumonia, absence ofhypoxemia (when stable), mild pulmonary hypertension, and late onset of symptoms, emphasize four important aspects of pulmonary involvement with hereditary telangiectasia. First, the pulmonary vaseular malformations may appear as telangiectases that are too small to be detected by plain chest radiographs and angiography," A diligent examination may reveal mucocutaneous telangiectases and prompt endoscopic examination. Second, the hemorrhage may be confused with manifestations of other diseases. Our patient was thought to have recurrent bacterial pneumonia, but the rapid resolution of pulmonary infiltrates was against this diagnosis." One of the first patients described to have pulmonary telangiectases was initially thought to havepneumonia. e Third, the patients may not be hypoxemic. Nineteen patients with pulmonary telangiectases have been reported in the English literature since 19507•8 (two children with hepatic disease' are excluded from discussion). All 19 were either hypoxemic, cyanotic, or both. Of the 12 who had shunt studies, all had right-to-Ieft: shunts. Our patient may be the first with hereditary pulmonary telangiectases who is free of shunting and hypoxemia (following recovery from lung hemorrhage). This could be explained if the pulmonary telangiectases were confined to the bronchial mucosa (supplied by the systemic circulation). The normal physiologic shunt fraction, cardiac green dye study, and .....c lung scan argue strongly against a significant right-to-Ieft: shunt (pulmonary circulation). Pulmonary hypertension, present in our patient, is rarely associated with right-to-Ieft: shunting, perhaps because significant shunts decompress the pulmonary circulation." Only one patient bas been described with endobronchial telangiectases, a 1088
normal shunt fraction, and normal PaO•.9 Because he had no mucocutaneous lesion, he had isolated bronchial telangiectasia, not hereditary telangiectasia. An alternate but unprecedented explanation is that our patient simply has intrapulmonary shunts which are insignificant both anatomically and physiologically. A detailed anatomic evaluation of a lung biopsy specimen, including vinyl mass injection followed by acid corrosion, would determine conclusively that the pulmonary telangiectases were confined to the bronchial circulation. Finally, disease may present in the elderly. Most patients are found to have pulmonary involvement by age 40.1 Three patients with pulmonary telangiectasia have been diagnosed after age 30. 7•8 Our patient was older and had normal gas exchange (his PaO.level would be approximately 80 mm Hg at sea level). We wonder if a later onset of symptoms indicates a less severe form of vascular abnormality, which contrasts with the striking and sometimes fatal onset of this illness in infancy.1O However, this less severe abnormality may still produce massive pulmonary hemorrhage. To include our patient, the spectrum of pulmonary arteriovenous malformations should consider location as well as size." We propose that pulmonary telangiectases may be confined to the bronchial circulation. When this occurs, gas exchange will be normal. Diagnosis may be difficult due to the lack ofhypoxemia and radiographically visible telangiectases, and ifbleeding is confused with other diseases such as pneumonia and "essential hemoptysis." A diligent search for associated mucocutaneous lesions and bronchoscopy will increase the detection of bronchial telangiectases in hereditary hemorrhagic telangiectasia. ACKNOWLEDGMENTS: The authors wish to thank Drs. Attilio D. Renzetti, Jr. and H. William Bonekat for their helpful comments on the manuscript, and Mr. Wally Coleman and Mr. TOddPeterson in Medical Media Production for their help with the photographs.
REFERENCES
1 Hodgson CH, Burchell HB, Good CA, Clagett m: Hereditary hemorrhagic telangiectasia and pulmonary arteriovenous fistula. N Engl J Med 1959; 261:625-36 2 Robin ED, Laman PD, Goris ML, Theodore J. A shunt is (not) a shunt is (not) a shunt. Am Rev Respir Dis 1977; 115:553-57 3 Chiang Sl: A nomogram for venous shunt (QslQt) calculation. Thorax 1968; 23:563-65 4 Burke CM, Safai C, Nelson D~ Baffin, TA. Pulmonary arteriovenous malfOrmations: a critical update. Am Rev Respir Dis 1986; 134:334-39 5 Jay SJ, Johanson WG, Pierce AK. The radiographic resolution of Streptococcus pneumoniae pneumonia. N Eng! J Med 1975; 293:798-801 6 Brink AJ. Telangiectasis of the lungs with two case reports of hereditary haemorrhagic telangiectasia with cyanosis. Q J Med 1950; 75:239-50 7 Currarino G, Willis KW: Johnson AF, Miller ww. Pulmonary telangiectasia. Am J Roentgenoll976; 127:775-79 8 Sapru ~ Hutchison DCS, Hall JI. Pulmonary hypertension in patients with pulmonary fistulae. Brit Heart J 1969; 31:559-69 9 Masson RG, Altose MD, Mayock RL. Isolated bronchial telangiectasia. Chest 1974; 65(4):450-52 10 Snyder LH, Doan CA. Studies in human inheritance. xxv Is the homozygous form of multiple telangiectasia lethal? J Lab Clio Med 1944; 29:1211-16 Pulmonary Telangiectasia without Hypoxemia (Uncoln, Shlgeoka)
We describe an elderly patient with an unusual presentation of hereditary hemorrhagic telangiectasia (Bendu-OslerWeber disease) involving the lung. He had recurrent "pneumonia" caused by massive hemorrhage from endobronchial telangiectases. When stable, he was normoxic, had no evidence of right-to-Ieft shunting, and had mild pulmonary arterial hypertension. His pulmonary telangiectases may be isolated to the bronchial circulation. We report hemodynamic data and show the first photographs of endobronchial telangiectases.
H
ereditary hemorrhagic telangiectasia {Rendu-OslerWebers disease} is an inherited general dysplasia of small blood vessels and capillaries . The lung is involved in 15 percent of patients, 1 usually as aneurysms that may be seen on the chest radiograph or, less commonly, as telangiectases that are too small to be detected radiographically. Telangiectases usually produce hypoxemia that may be associated with cyanosis, clubbing, and polycythemia. We recently saw a patient who had unusual features of hereditary telangiectasia. He had mucosal and endobronchial telangiectases that bled and simulated recurrent pneumonia, yet he was normoxie when his illness was quiescent. We report the hemodynamic data and offer the first published photographs of endobronchial telangiectases. CASE REPORT A 79-year-old man was hospitalized for treatment of pneumococcal pneumonia after complaining of acute chest pain and cough productive of blood clots . His diagnosis was based on fever (38.3°C}, signs of right chest consolidation, leukocytosis, severe hypoxemia (PaD. of37 mm Hg), dense radiographic alveolar infiltrates in the right lung, and Gram-positive cocci in sputum. He had a history of mitral valve prolapse, angina, and transient ischemic attacks, but no anemia, gastrointestinal bleeding or epistaxis. There was no bruit or clubbing. The hematocrit (47 percent) and urinalysis were within normal limits. Because bleeding was not observed, the history of hemoptysis was ignored. He was hospitalized for treatment of pneumonia, with similar complaints noted two and 39 months previously. After two days of therapy, the chest was clear, the radiographic infiltrates had resolved almost completely, the PaD. was 43 mm Hg, and the hematocrit 39 percent On the sixth day, a consultant noted that similar rapid resolution of infiltrates occurred with the prior bouts of pneumonia. A lung scan showed diminished perfusion in the areas of the lung with residual infiltrates. Selective bilateral angiograms showed no thromboemboli or abnormal arteriovenous communications. The consultant discovered sublingual, labial, and oral telangiectases and recommended bronchoscopic examination. Nonbleeding telangiectases were seen in the posterior (but not anterior) nasopharynx, larynx, trachea, and bronchial tree (Fig 1 and 2). The endobronchial telangiectases were surrounded by prominent -From the Pulmonary Section, Veterans Administration Medical Center, and Department of Medicine, University of Utah School of Medicine, Salt Lake City. Supported in part by the Veterans Administration. Reprint requests: Dr. Shilr,eoka, VA Medical Center; 500 Foothill BlVd, Salt Lake City 84148
FIGURE 1. Fiberoptic bronchoscopic view of proximal bronchus intermedius; note prominent vascular pattern and faint blue blush
(arrow) .
vessels; some appeared as blue blushes, others as bright red spiders. Right heart catheterization showed mild pulmonary hypertension that increased with exercise, and a normal cardiac index \Illble 1). The indocyanine green dye curve was normal, and the oxygen saturation did not "step up." Technetium 99m macroaggregated albumin appeared normally in the lung and none appeared in the brain, liver, or kidneys.· After discharge, the PaD. was 61 mm Hg, the P(A-a)O. mm Hg, and the respiratory exchange ratio, 1.04 . Two years earlier, the po. was 55 mm Hg . In Salt Lake City (barometric pressure 640 mm Hg), the predicted PaD. for 80-year-old men is 64 mm Hg (lower normal limit, 52 mm Hg) and P(A-a)O. 14 mm Hg (upper normal limit, 27 mm Hg). Results of spirometry were normal, but the single breath
FIGURE2. Fiberoptic bronchoscopic view of distal bronchus intermedius; note bright red, spider-like lesion (this is not secondary to trauma). CHEST I 93 I 5 I MAY, 1988
1097
Table I-Hemodynamic Data Pressure in mm Hg (normal in parentheses)
Pulmonary wedge
Rest
2 (1-10) Exercise 8 Flows in Umin
Pulmonary artery
Right ventricle
44/15 (15-3014-12) 69/22
48/5 (15-30/0-8) 64/4
Oxygen consumption Rest 0.21 0.6 Exercise Resistances in mm HglUminlml Systemic resistance
Rest Exercise
41. 9 (9.6-18.75) 28.4
Cardiac
index 2.7 (2.5-4.2)
4.3
Pulmonary
resistance 8.9 (.25-1.5) 7.9
carbon monoxide diffusing capacity (11 mlIminlmm Hg), and the ratio of diflUsing capacity to alveolar volume (DIIVA) (2.8) were reduced. 11le physiologic shunt fraction using 100 percent oxygen was 5.8, 7.7, and 5.0 percent on separate occasions (normal less than 7 percent3~ DISCUSSION
This patient had the cardinal features of hereditary hemorrhagic telangiectasia, namely: multiple mucosal, cutaneous, and visceral telangiectases and bleeding. 1 A family history is not essential because the telangiectases may be inconspicuous or not appear in all relatives. 1 He had no condition associated with acquired telangiectases, eg, liver disease or trauma. The unusual features of this case, namely: the resemblance to pneumonia, absence ofhypoxemia (when stable), mild pulmonary hypertension, and late onset of symptoms, emphasize four important aspects of pulmonary involvement with hereditary telangiectasia. First, the pulmonary vaseular malformations may appear as telangiectases that are too small to be detected by plain chest radiographs and angiography," A diligent examination may reveal mucocutaneous telangiectases and prompt endoscopic examination. Second, the hemorrhage may be confused with manifestations of other diseases. Our patient was thought to have recurrent bacterial pneumonia, but the rapid resolution of pulmonary infiltrates was against this diagnosis." One of the first patients described to have pulmonary telangiectases was initially thought to havepneumonia. e Third, the patients may not be hypoxemic. Nineteen patients with pulmonary telangiectases have been reported in the English literature since 19507•8 (two children with hepatic disease' are excluded from discussion). All 19 were either hypoxemic, cyanotic, or both. Of the 12 who had shunt studies, all had right-to-Ieft: shunts. Our patient may be the first with hereditary pulmonary telangiectases who is free of shunting and hypoxemia (following recovery from lung hemorrhage). This could be explained if the pulmonary telangiectases were confined to the bronchial mucosa (supplied by the systemic circulation). The normal physiologic shunt fraction, cardiac green dye study, and .....c lung scan argue strongly against a significant right-to-Ieft: shunt (pulmonary circulation). Pulmonary hypertension, present in our patient, is rarely associated with right-to-Ieft: shunting, perhaps because significant shunts decompress the pulmonary circulation." Only one patient bas been described with endobronchial telangiectases, a 1088
normal shunt fraction, and normal PaO•.9 Because he had no mucocutaneous lesion, he had isolated bronchial telangiectasia, not hereditary telangiectasia. An alternate but unprecedented explanation is that our patient simply has intrapulmonary shunts which are insignificant both anatomically and physiologically. A detailed anatomic evaluation of a lung biopsy specimen, including vinyl mass injection followed by acid corrosion, would determine conclusively that the pulmonary telangiectases were confined to the bronchial circulation. Finally, disease may present in the elderly. Most patients are found to have pulmonary involvement by age 40.1 Three patients with pulmonary telangiectasia have been diagnosed after age 30. 7•8 Our patient was older and had normal gas exchange (his PaO.level would be approximately 80 mm Hg at sea level). We wonder if a later onset of symptoms indicates a less severe form of vascular abnormality, which contrasts with the striking and sometimes fatal onset of this illness in infancy.1O However, this less severe abnormality may still produce massive pulmonary hemorrhage. To include our patient, the spectrum of pulmonary arteriovenous malformations should consider location as well as size." We propose that pulmonary telangiectases may be confined to the bronchial circulation. When this occurs, gas exchange will be normal. Diagnosis may be difficult due to the lack ofhypoxemia and radiographically visible telangiectases, and ifbleeding is confused with other diseases such as pneumonia and "essential hemoptysis." A diligent search for associated mucocutaneous lesions and bronchoscopy will increase the detection of bronchial telangiectases in hereditary hemorrhagic telangiectasia. ACKNOWLEDGMENTS: The authors wish to thank Drs. Attilio D. Renzetti, Jr. and H. William Bonekat for their helpful comments on the manuscript, and Mr. Wally Coleman and Mr. TOddPeterson in Medical Media Production for their help with the photographs.
REFERENCES
1 Hodgson CH, Burchell HB, Good CA, Clagett m: Hereditary hemorrhagic telangiectasia and pulmonary arteriovenous fistula. N Engl J Med 1959; 261:625-36 2 Robin ED, Laman PD, Goris ML, Theodore J. A shunt is (not) a shunt is (not) a shunt. Am Rev Respir Dis 1977; 115:553-57 3 Chiang Sl: A nomogram for venous shunt (QslQt) calculation. Thorax 1968; 23:563-65 4 Burke CM, Safai C, Nelson D~ Baffin, TA. Pulmonary arteriovenous malfOrmations: a critical update. Am Rev Respir Dis 1986; 134:334-39 5 Jay SJ, Johanson WG, Pierce AK. The radiographic resolution of Streptococcus pneumoniae pneumonia. N Eng! J Med 1975; 293:798-801 6 Brink AJ. Telangiectasis of the lungs with two case reports of hereditary haemorrhagic telangiectasia with cyanosis. Q J Med 1950; 75:239-50 7 Currarino G, Willis KW: Johnson AF, Miller ww. Pulmonary telangiectasia. Am J Roentgenoll976; 127:775-79 8 Sapru ~ Hutchison DCS, Hall JI. Pulmonary hypertension in patients with pulmonary fistulae. Brit Heart J 1969; 31:559-69 9 Masson RG, Altose MD, Mayock RL. Isolated bronchial telangiectasia. Chest 1974; 65(4):450-52 10 Snyder LH, Doan CA. Studies in human inheritance. xxv Is the homozygous form of multiple telangiectasia lethal? J Lab Clio Med 1944; 29:1211-16 Pulmonary Telangiectasia without Hypoxemia (Uncoln, Shlgeoka)