Ann Thorac Surg 2003;75:1304-1306
© 2003 The Society of Thoracic Surgeons
Case report
Hemopneumothorax associated with marfan syndrome and congenital afibrinogenemia
Ryuzo Kanno, MDa*,
Hiroyuki Suzuki, MDa,
Koichi Fujiu, MDa,
Yasuaki Yoshino, MDa,
Akio Ohishi, MDb,
Mitsukazu Gotoh, MDa
a First Department of Surgery, Fukushima Medical University, Fukushima, Japan
b Department of Surgery, Fukushima Red Cross Hospital, Fukushima, Japan
Accepted for publication October 8, 2002.
* Address reprint requests to Dr Kanno, First Department of Surgery, Fukushima Medical University, 1 Hikarigaoka, Fukushima 960-1295, Japan
e-mail: ryuzo{at}fmu.ac.jp
 |
Abstract
|
|---|
In patients with afibrinogenemia who require operation, prophylaxis against bleeding is important. We report the case of a 14-year-old boy with Marfan syndrome and congenital afibrinogenemia in whom hemopneumothorax developed. Video-assisted thoracoscopic surgery was performed successfully under intravenous administration of fibrinogen and with careful monitoring of plasma fibrinogen level.
|
Introduction
|
|---|
Congenital afibrinogenemia is a rare, inherited coagulopathy with clinical manifestations that range from minor to severe bleeding because of the complete absence of fibrinogen. Marfan syndrome is a heritable connective tissue disorder with manifestations in the ocular, skeletal, and cardiovascular systems. Marfan syndrome is often associated with pneumothorax. We report the first case of hemopneumothorax, recurrent bilateral pneumothorax with Marfan syndrome, and congenital afibrinogenemia. Video-assisted thoracoscopic bullectomy was successfully performed by intravenous administration of heat- and solvent detergent- treated fibrinogen concentrates.
A 14-year-old boy was admitted to our hospital complaining of chest pain and dyspnea. He was known to have congenital afibrinogenemia, diagnosed 4 days after birth following umbilical bleeding. The bleeding episodes included submandibular bleeding and subdural hematoma at the age of 2 years. Marfan syndrome was diagnosed at age 12 on the basis of physical stigmata and cardiovascular abnormalities. He had been treated with 1 g of fibrinogen intravenously every 2 weeks since age 6 years and treated for chronic hepatitis due to hepatitis C virus infection since age 11 years.
A chest roentgenogram and computed tomographic scan on admission showed collapse of the left lung and fluid collection (Fig 1).
He was found to have hemopneumothorax by chest radiography and was treated with pleural drainage. About 1,100 mL of fresh blood was drained. The plasma fibrinogen level was 15 mg/dL. He was treated with fibrinogen, which resulted in cessation of bleeding. The chest drainage tube was removed within a few days. However, 1 month later, recurrent left pneumothorax developed. We decided to perform thoracoscopic bullectomy. Five grams of fibrinogen was infused during 3 preoperative days, which increased the plasma fibrinogen level to 183 mg/dL. Then he underwent thoracoscopic bullectomy. We found a bulla measuring 2.0 cm in diameter at the apex of the left upper lobe. The bulla was resected by stapling device. Two grams of fibrinogen were infused daily until postoperative day (POD) 3, and 1 g of fibrinogen was infused on POD 4 and POD 5. The fibrinogen level was 154 mg/dL on POD 3 (Fig 2).
His postoperative course was uneventful, and there was no postoperative bleeding. The chest tube was removed on POD 2, and the patient was discharged on POD 7. However, left pneumothorax recurred at 16 years of age and right pneumothorax developed 2 years later. He was treated successfully by bilateral thoracoscopic bullectomy using the same perioperative management protocol. We have followed up this patient for 4 years after the last operation, and he remains free from any episode of pneumothorax or hemopneumothorax.
View larger version (74K):
[in this window]
[in a new window]
|
Fig 1. Chest roentgenogram (A) and computed tomographic scan (B) on admission showing collapse of the left lung and pleural effusion.
|
|
|
Comment
|
|---|
Congenital afibrinogenemia is a rare inherited disorder with an estimated incidence of about 1 to 2 per million. Clinical manifestations of this disorder range from minimal bleeding to fatal bleeding [1]. Almost all bleeding episodes are treated conservatively with intravenous administration of fibrinogen. However, some cases of spontaneous splenic rupture and surgical treatment associated with afibrinogenemia have been reported [2, 3]. Congenital afibrinogenemia is caused by mutation of fibrinogen alpha and beta chain gene [6].
Marfan syndrome is an autosomal dominant inherited disorder of connective tissue with variable clinical manifestations in the cardiovascular, ocular, musculoskeletal systems and is often complicated by pneumothorax [4]. Our case represents rare and complicated condition. Recently the molecular pathogenesis of Marfan syndrome was recognized resulting from mutation in the fibrillin-1 (FBN1) gene [5]. The genetic relationship between these two inherited disorders is not known.
In patients with afibrinogenemia, prophylaxis of bleeding is important if they need an operation. However, fibrinogen therapy is associated with the risk of viral infections, such as hepatitis viruses and human immunodeficiency virus. In addition, allergic reactions and anti-fibrinogen antibody have been reported [3]. We commonly use heat- and solvent detergent-treated fibrinogen, but the risk of viral infection remains. Unfortunately, our patient developed chronic hepatitis due to hepatitis C virus. It is possible that he had been infected by blood products before the introduction of the viral screening system.
Fibrinogen must be administered with continuous monitoring of plasma fibrinogen level during the perioperative period. For prophylaxis of perioperative bleeding, the fibrinogen level must be over 100 mg/dL [1–3]. In our case, 7 g of fibrinogen was administered preoperatively and 8 g postoperatively. Such treatment resulted in maintenance of plasma fibrinogen levels above 150 mg/dL during the perioperative period, and the operation was performed safely.
|
References
|
|---|
- Al-Mondhiry H., Ehmann W.C. Congenital afibrinogenemia. Am J Hematol 1994;49:343-347.
- Ehmann W.C., Al-Mondhiry H. Congenital afibrinogenemia and splenic rupture. Am J Med 1994;96:92-94.[Medline]
- Shima M., Tanaka I., Sawamoto Y., et al. Successful treatment of two brothers with congenital afibrinogenemia for splenic rupture using heat and solvent detergent treated fibrinogen concentrates. J Pediatr Hematol Oncol 1997;19:462-465.[Medline]
- Hall J.R., Pyerits R.E., Dudgeon D.L., et al. Pneumothorax associated with Marfan syndrome: prevalence and therapy. Ann Thorac Surg 1984;37:500-504.[Abstract]
- Duga S., Asselta R., Santagostino E., et al. Missense mutations in the human beta fibrinogen gene cause congenital afibrinogenemia by impairing fibrinogen secretion. Blood 2000;95:1336-1341.[Abstract/Free Full Text]
- Robinson P.N., Booms P., Katzke S., et al. Mutations of FBN1 and genotype-phenotype correlations in Marfan syndrome and related fibrillinopathies. Hum Mutat 2002;20:153-161.[Medline]
Top
Abstract
Introduction
