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Kim, Park, Kwon, Kim, Jung, Lee, Lee, Lee, Jung, Jung, and Kim: A Case of Hereditary Hemorrhagic Telangiectasia Diagnosed through Spontaneous Hemothorax
Case Report
Tuberculosis and Respiratory Diseases

Tuberculosis and Respiratory Diseases 2012; 72(1): 50-54.

Published online: 30 January 2012

DOI: https://doi.org/10.4046/trd.2012.72.1.50

A Case of Hereditary Hemorrhagic Telangiectasia Diagnosed through Spontaneous Hemothorax

Chong Whan Kim, M.D.1, Il Hwan Park, M.D.2, Woocheol Kwon, M.D.3, Young Joo Kim, M.D.3, Soon Hee Jung, M.D.4, Shun Nyung Lee, M.D.1, Seok Jeong Lee, M.D.1, Ji-Ho Lee, M.D.1, Saehyun Jung, M.D.1, Ye-Ryung Jung, M.D.1, Sang-Ha Kim, M.D.1

1Department of Internal Medicine, Yonsei University Wonju College of Medicine, Wonju, Korea.

2Department of Thoracic Surgery, Yonsei University Wonju College of Medicine, Wonju, Korea.

3Department of Radiology, Yonsei University Wonju College of Medicine, Wonju, Korea.

4Department of Pathology, Yonsei University Wonju College of Medicine, Wonju, Korea.

Address for correspondence: Sang-Ha Kim, M.D. Department of Internal Medicine, Yonsei University Wonju College of Medicine, 162, Ilsan-dong, Wonju 220-701, Korea. Phone: 82-33-741-1234, 0926, Fax: 82-33-741-0928, sanghakim@yonsei.ac.kr

Received 16 September 2011       Revised 10 October 2011       Accepted 2 December 2011

Copyright © 2012. The Korean Academy of Tuberculosis and Respiratory Diseases. All rights reserved.

Abstract

Hereditary hemorrhagic telangiectasia (HHT, Osler-Weber-Rendu disease) is a rare autosomal dominant disease characterized by heterogenous multisystemic dysplasia of the vascular tissue. Prevalence of HHT is 1 in 5,000~8,000. HHT commonly presents with recurrent epistaxis, but may have more serious consequences if visceral vascular beds are involved. Approximately 30~50% of HHT cases also present with pulmonary arteriovenous malformation (PAVM). Spontaneous hemothorax is less common, and PAVM is one of the causes leading to hemothorax. Our case involved an 18-year-old female who had suddenly developed right chest pain. The reason for chest pain was due to right spontaneous hemothorax accompanied by PAVM in the right middle lobe. The patient was additionally diagnosed with HHT upon examination of her family history, specifically through her mother's symptom that included recurrent epistaxis and mucosal telangiectasia.

Keywords: Telangiectasia, Hereditary Hemorrhagic, Hemothorax, Arteriovenous Malformations

Figures and Tables

Figure 1
Mother (A) and daughter (B) had multiple telangiectasia on the mucosa of their tongues and lips.
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Figure 2
(A) 2.5 cm nidus formation with dilatation of segmental pulmonary artery and vein suggesting pulmonary arteriovenous malformation in the right medial segment. (B) Pulmonary AVM was in broad contact with the right major fissure in the lung window setting of the chest CT. (C) Axial image of contrast-enhanced chest CT showed 4.3×1.8 cm enhancing mass with calcification in the prevascular space. The right hemothorax is shown here. CT: computed tomography.
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Figure 3
Pulmonary angiography revealed pulmonary arteriovenous malformation in the right middle lobe before (A) and after mechanical coil embolization (B).
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Figure 4
(A) A well encapsulated white gray mass (6.0×5.5×1.6 cm) with homogenous cut surface, lobulated by fibrous septa, was present. (B) Type B1 thymoma was observed showing few thymic epithelial cells with rich non-neoplastic lymphocytes in the background (H&E stain, ×200).
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Figure 5
(A) Pulmonary arteriovenous malformation indicated an ill-defined hemorrhagic nodule (2.0×1.5×1.0 cm) composed of dilated tortuous blood vessels with thin walls. (B) Pulmonary arteriovenous malformation demonstraated dilated vessels with an abnormal distribution (H&E stain, ×20).
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