Ann Thorac Surg 2004;77:1843-1845
© 2004 The Society of Thoracic Surgeons
Case report
Klippel-Trenauney-Weber syndrome associated with hemoptysis
Arup Kumar Ghosh, MS, FRCS*a,b,c,
Sara F. Smithson, MDa,b,c,
Andrew Mumford, MRCPa,b,c,
Mathew Patteril, MDa,b,c,
Khalid Amer, FRCSa,b,c
a Thoracic Surgery, Bristol Royal Infirmary, Bristol, United Kingdom
b Haematology, Bristol Royal Infirmary, Bristol, United Kingdom
c Department of Clinical Genetics, St. Michael's Hospital, Bristol, United Kingdom
Accepted for publication June 6, 2003.
* Address reprint requests to Dr Ghosh, Department of Thoracic Surgery, Bristol Royal Infirmary, Bristol BS2 8HW, UK
e-mail: arupkumarghosh{at}aol.com
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Abstract
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We report a case of Klippel-Trenaunay-Weber syndrome presenting with hemoptysis.
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Introduction
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Klippel-Trenaunay-Weber syndrome is a rare congenital anomaly which usually occurs sporadically [1], first described in 1900 by French physicians Klippel and Trenaunay [2]. It is characterized by the triad of port-wine stain, varicose veins, and asymmetrical bony and soft tissue hypertrophy of the extremities [3].
One of the important components of this syndrome is vascular malformation; almost all patients display cutaneous hemangioma or lymphangioma. Visceral organs may also be involved in the angiomatous malformations leading to a variety of manifestations depending on the organ involved. Hematuria, hematochezia, and spontaneous internal bleeding are well-known manifestations of this syndrome [3]. We report a case of Klippel-Trenaunay-Weber (KTW) syndrome presenting with hemoptysis.
A 32-year-old male woke up in the middle of the night coughing up bright red blood. He had never suffered from any respiratory ailment before. It was not associated with fever, shortness of breath or chest pain. Hemoptysis was more pronounced in the early morning amounting to about 50 mL of blood every day. He was a nonsmoker and had never been exposed to asbestos or any other occupational hazards. Routine chest roentgenogram failed to reveal any abnormality. Routine blood tests revealed normal hemoglobin, white cell, and platelet count. Prothrombin time and activated clotting time were also normal. But detailed history and clinical examination revealed certain striking features. He suffered an episode of subarachonoid hemorrhage at the age of two and had several episodes of hematochezia. He had prominent port-wine stains on the upper chest and back and the simian crease on the right hand (Fig 1).
The lower limbs had considerable discrepancy in the size and length. The right foot was considerably bigger in size with prominent varicose veins on the lateral aspect and there was gross macrodactyly of the second toe (Fig 2). A provisional diagnosis of Klippel-Trenaunay-Weber syndrome was made. A subsequent contrast-enhanced computed tomographic (CT) scan of his chest failed to reveal any specific abnormality. Bronchoscopy showed an essentially normal tracheo-bronchial tree except for old blood clots in the left lower bronchus. Chromosome studies derived from a skin fibroblasts skin biopsy showed a normal male karyotype 46, XY. The patient responded well to transexamic acid and hemoptysis stopped within the next few days [4]. On six-months follow-up, the patient remains free from further episodes of hemoptysis.
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Comment
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A significant amount of the workload of a respiratory unit is contributed to by cases of hemoptysis. Although malignancy and infection remain the two important causes of hemoptysis, there are times when even batteries of tests fail to clinch the diagnosis. Clinicians should be aware of this rare syndrome where the physical signs are so striking that diagnosis will rarely be missed. Conventional investigations like CT scan and bronchoscopy may be helpful by excluding gross parenchymal and endobronchial anomalies. Transexamic acid has been reported to be effective in stopping bleeding in this syndrome [4]. In cases of endobronchial lesions accessible by bronchoscopy, a neodymium:yttrium aluminum garnet (YAG) laser could be tried [5]. Percutaneous bronchial angiography may be helpful by delineating the vascular malformations and embolizing the bleeding vessel in case of massive hemoptysis [7]. Patients should be warned of the high possibility of recurrence of hemoptysis. The KTW syndrome is often considered to be a mosaic condition consistent with the sporadic occurrence within families [7]. Its genetic basis remains unknown although the balanced de novo translocation t(8, 14) reported in a patient with KTW [6] points to the possible site of the Klippel-Trenaunay-Weber gene. These findings raise the possibility of dominant transmission of the disorder and genetic counseling may be helpful to affected individuals.
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References
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- Berry S.A., Peterson C., Mize W. Klippel-Trenaunay syndrome. Am J Med Genet 1998;79:319-326.[Medline]
- Ceballos-Quintal J.M., Pinto-Escalante D., Castillo-Zapata I. A new case of Klippel-Trenaunay-Weber syndrome: evidence of autosomal dominant inheritance. Am J Med Genet 1996;63:426-427.[Medline]
- Meine J.G., Schwartz R.A., Janniger C.K. Klippel-Trenaunay-Weber syndrome. Pediatric Dermatology 1997;60:127-131.
- Katsaros D., Grundfest-Broniatowski S. Successful management of visceral Klippel-Trenaunay-Weber syndrome with the antifibrinolytic agent transexamic acid: a case report. Am Surg 1998;64(4):302-304.[Medline]
- Zini L., Amara N., Graziana J.P., Villers A., Biserte J., Nazeman E. Klippel-Trenaunay syndrome and multiple vesical haemangioma: treatment with neodymium:YAG laser. Prog Urol 2001;11(6):1282-1284.[Medline]
- Wang Q., Timur A.A., Szafranski P., et al. Identification and molecular characterization of de novo translocation t(8,14) (q22.3; q 13) associated with vascular and tissue overgrowth syndrome. Cytogenet Cell Genet 2001;95(3–4):183-188.[Medline]
- Keto A, Kudo S, Matsumato K, et al. Bronchial artery embolization for haemoptysis due to benign diseases: immediate and long term results. Cardiovasc Intervent Radiol 2000 Sep-Oct;23(5):351–7
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Abstract
Introduction
