538400
research-article2014
AORXXX10.1177/0003489414538400Annals of Otology, Rhinology & LaryngologyChang and Yung
Article
Dysphonia and Vocal Fold Telangiectasia in Hereditary Hemorrhagic Telangiectasia
Annals of Otology, Rhinology & Laryngology 2014, Vol. 123(11) 769–770 © The Author(s) 2014 Reprints and permissions: sagepub.com/journalsPermissions.nav DOI: 10.1177/0003489414538400 aor.sagepub.com
Joseph Chang, BS1, and Katherine C. Yung, MD2
Abstract Objective: This case report is the first documentation of dysphonia and vocal fold telangiectasia as a complication of hereditary hemorrhagic telangiectasia (HHT). Methods: Case report of a 40-year-old man with HHT presenting with 2 years of worsening hoarseness. Results: Hoarseness corresponded with a period of anticoagulation. Endoscopy revealed vocal fold scarring, vocal fold telangiectasias, and plica ventricularis suggestive of previous submucosal vocal fold hemorrhage and subsequent counterproductive compensation with ventricular phonation. Conclusion: Hereditary hemorrhagic telangiectasia may present as dysphonia with vocal fold telangiectasias and place patients at risk of vocal fold hemorrhage. Keywords dysphonia, telangiectasia, vocal fold hemorrhage, hereditary hemorrhagic telangiectasia, HHT
Introduction Hereditary hemorrhagic telangiectasia (HHT) is a vascular disorder that affects up to 1 in 16 500 in the United States1 and is characterized by recurrent epistaxis, mucocutaneous telangiectasia, visceral arteriovenous malformations, and family history of HHT. Epidemiological studies have shown that the majority of patients display clinical manifestations of HHT, most commonly epistaxis and mucocutaneous telangiectasia, by 20 years of age with progressively increasing severity with age.2,3 However, the symptoms of HHT are often quite subtle and the majority of HHT patients remain undiagnosed.4 Although patients with HHT most commonly present to otolaryngology with recurrent epistaxis, we present a case of HHT presenting with hoarseness secondary to vocal fold hemorrhage and laryngeal telangiectasias.
Case Report A 40-year-old man with a recent diagnosis of HHT presented with a 2-year history of hoarseness worsening significantly over the past 6 months. He reported vocal fatigue within 5 minutes of talking with recovery after rest. Despite frequent episodes of aphonia and severe dysphonia, he denied voice abuse, high vocal demand, recurrent upper respiratory infections, dysphagia, odynophagia, or hemoptysis. Past medical history is significant for anemia requiring multiple admissions for transfusion in addition to lifelong
weekly epistaxis and bright red blood per rectum. Neither the epistaxis nor the rectal bleeding required hospitalization. He was diagnosed with HHT approximately 4 months prior to his presentation to our voice center. His records noted soft palate, lip, tongue, and middle turbinate telangiectasias but no documented visceral or cerebral arteriovenous malformations (AVM). He underwent an inguinal mass excision 4 years prior to presentation at an outside hospital for which he may have undergone endotracheal intubation. No family history was available as the patient was adopted. Current medications were noncontributory, although the patient had been anticoagulated starting 21 months prior to presentation until 7 months prior to presentation for venous thromboses. On examination, he had a rough voice secondary to plica ventricularis and demonstrated thyrohyoid space tenderness. On 70-degree rigid endoscopy, the vocal folds were erythematous with telangiectasias posteriorly and demonstrated medial grooving with mucosal irregularity (Figure 1). In addition, there was mild anterior commissure blunting as well as supraglottic constriction with phonation. On 1
School of Medicine, University of California, San Francisco, San Francisco, California, USA 2 Department of Otolaryngology, University of California, San Francisco, San Francisco, California, USA Corresponding Author: Katherine C. Yung, MD, UCSF Voice and Swallowing Center, 2330 Post Street, 5th Floor, San Francisco, CA 94115, USA. Email: [email protected]
Downloaded from aor.sagepub.com at University of Bath - The Library on June 9, 2015
770
Annals of Otology, Rhinology & Laryngology 123(11) voice complaints correspond to his interval of anticoagulation and suggest that he likely experienced vocal fold hemorrhage while anticoagulated, eventually leading to his vocal fold scarring. The mild blunting of the anterior commissure noted on exam, in our opinion, would not affect voice quality as much as the diffuse reduction in vocal fold vibration. Nevertheless, it is plausible or even likely that HHT also contributed to this blunting if there were anterior commissure telangiectasias that hemorrhaged and subsequently healed with scar formation. Had the patient presented with fresh vocal fold hemorrhage or small volume hemoptysis, we may have considered photoangiolytic laser therapy to prophylactically treat the telangiectasias and, it is hoped, prevent future hemorrhage. Massive hemoptysis is unlikely to result from a laryngeal source and is most characteristic of ruptured pulmonary AVM given the well-documented association.5
Figure 1. Rigid endoscopy of the glottis demonstrating erythematous vocal folds with telangiectasias posteriorly.
stroboscopy, the vocal folds demonstrated reduced vibratory parameters and irregular glottic closure at all pitches. The patient was diagnosed with vocal fold stiffness and scarring secondary to presumed past submucosal vocal fold hemorrhages with subsequent counterproductive compensation with ventricular phonation. Because the patient had existing stiffness and scarring without hemoptysis or fresh hemorrhage, no procedural intervention was performed. Voice therapy was offered; however, the patient was unable to make these sessions due to a subsequent hospitalization for HHT complications.
Conclusion Hereditary hemorrhagic telangiectasia may present as dysphonia with vocal fold telangiectasias and place patients at risk of vocal fold hemorrhage, especially when undergoing anticoagulation. Patients presenting with HHT-related vocal fold telangiectasias may benefit from prophylactic photoangiolytic laser therapy. Declaration of Conflicting Interests The author(s) declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article.
Funding The author(s) received no financial support for the research, authorship, and/or publication of this article.
Discussion Although the diagnosis of HHT has been recognized since the 19th century, a comprehensive literature search revealed no documentation of HHT, telangiectasias, or Osler-WeberRendu syndrome associated with dysphonia, vocal folds, voice, or larynx. As a result, this current case is unique in that it is the first report of vocal fold telangiectasias secondary to HHT as well as the first documentation of voice dysfunction secondary to HHT. This is an interesting case report that helps to broaden the differential diagnosis when evaluating patients with dysphonia and glottic lesions. Although dysphonia and vocal fold scarring may result from endotracheal intubation, this patient developed symptoms approximately 2 years following his only surgery, thus making intubationrelated trauma an unlikely etiology. Instead, this case suggests that vocal fold telangiectasias from HHT, especially in conjunction with anticoagulation, may be a risk factor for vocal fold hemorrhage. There was no fresh vocal fold hemorrhage noted on his examination; however, the patient’s
References 1. Guttmacher AE, McKinnon WC, Upton MD. Hereditary hemorrhagic telangiectasia: a disorder in search of the genetics community. Am J Med Genet. 1994;52(2):252-253. 2. Aassar OS, Friedman CM, White RI Jr. The natural history of epistaxis in hereditary hemorrhagic telangiectasia. Laryngoscope. 1991;101(9):977-980. 3. Plauchu H, de Chadarevian JP, Bideau A, Robert JM. Agerelated clinical profile of hereditary hemorrhagic telangiectasia in an epidemiologically recruited population. Am J Med Genet. 1989;32(3):291-297. 4. Shovlin CL, Jackson JE, Bamford KB, et al. Primary determinants of ischaemic stroke/brain abscess risks are independent of severity of pulmonary arteriovenous malformations in hereditary haemorrhagic telangiectasia. Thorax. 2008;63(3):259-266. 5. Ference BA, Shannon TM, White RI Jr, Zawin M, Burdge CM. Life-threatening pulmonary hemorrhage with pulmonary arteriovenous malformations and hereditary hemorrhagic telangiectasia. Chest. 1994;106(5):1387-1390.
Downloaded from aor.sagepub.com at University of Bath - The Library on June 9, 2015
research-article2014
AORXXX10.1177/0003489414538400Annals of Otology, Rhinology & LaryngologyChang and Yung
Article
Dysphonia and Vocal Fold Telangiectasia in Hereditary Hemorrhagic Telangiectasia
Annals of Otology, Rhinology & Laryngology 2014, Vol. 123(11) 769–770 © The Author(s) 2014 Reprints and permissions: sagepub.com/journalsPermissions.nav DOI: 10.1177/0003489414538400 aor.sagepub.com
Joseph Chang, BS1, and Katherine C. Yung, MD2
Abstract Objective: This case report is the first documentation of dysphonia and vocal fold telangiectasia as a complication of hereditary hemorrhagic telangiectasia (HHT). Methods: Case report of a 40-year-old man with HHT presenting with 2 years of worsening hoarseness. Results: Hoarseness corresponded with a period of anticoagulation. Endoscopy revealed vocal fold scarring, vocal fold telangiectasias, and plica ventricularis suggestive of previous submucosal vocal fold hemorrhage and subsequent counterproductive compensation with ventricular phonation. Conclusion: Hereditary hemorrhagic telangiectasia may present as dysphonia with vocal fold telangiectasias and place patients at risk of vocal fold hemorrhage. Keywords dysphonia, telangiectasia, vocal fold hemorrhage, hereditary hemorrhagic telangiectasia, HHT
Introduction Hereditary hemorrhagic telangiectasia (HHT) is a vascular disorder that affects up to 1 in 16 500 in the United States1 and is characterized by recurrent epistaxis, mucocutaneous telangiectasia, visceral arteriovenous malformations, and family history of HHT. Epidemiological studies have shown that the majority of patients display clinical manifestations of HHT, most commonly epistaxis and mucocutaneous telangiectasia, by 20 years of age with progressively increasing severity with age.2,3 However, the symptoms of HHT are often quite subtle and the majority of HHT patients remain undiagnosed.4 Although patients with HHT most commonly present to otolaryngology with recurrent epistaxis, we present a case of HHT presenting with hoarseness secondary to vocal fold hemorrhage and laryngeal telangiectasias.
Case Report A 40-year-old man with a recent diagnosis of HHT presented with a 2-year history of hoarseness worsening significantly over the past 6 months. He reported vocal fatigue within 5 minutes of talking with recovery after rest. Despite frequent episodes of aphonia and severe dysphonia, he denied voice abuse, high vocal demand, recurrent upper respiratory infections, dysphagia, odynophagia, or hemoptysis. Past medical history is significant for anemia requiring multiple admissions for transfusion in addition to lifelong
weekly epistaxis and bright red blood per rectum. Neither the epistaxis nor the rectal bleeding required hospitalization. He was diagnosed with HHT approximately 4 months prior to his presentation to our voice center. His records noted soft palate, lip, tongue, and middle turbinate telangiectasias but no documented visceral or cerebral arteriovenous malformations (AVM). He underwent an inguinal mass excision 4 years prior to presentation at an outside hospital for which he may have undergone endotracheal intubation. No family history was available as the patient was adopted. Current medications were noncontributory, although the patient had been anticoagulated starting 21 months prior to presentation until 7 months prior to presentation for venous thromboses. On examination, he had a rough voice secondary to plica ventricularis and demonstrated thyrohyoid space tenderness. On 70-degree rigid endoscopy, the vocal folds were erythematous with telangiectasias posteriorly and demonstrated medial grooving with mucosal irregularity (Figure 1). In addition, there was mild anterior commissure blunting as well as supraglottic constriction with phonation. On 1
School of Medicine, University of California, San Francisco, San Francisco, California, USA 2 Department of Otolaryngology, University of California, San Francisco, San Francisco, California, USA Corresponding Author: Katherine C. Yung, MD, UCSF Voice and Swallowing Center, 2330 Post Street, 5th Floor, San Francisco, CA 94115, USA. Email: [email protected]
Downloaded from aor.sagepub.com at University of Bath - The Library on June 9, 2015
770
Annals of Otology, Rhinology & Laryngology 123(11) voice complaints correspond to his interval of anticoagulation and suggest that he likely experienced vocal fold hemorrhage while anticoagulated, eventually leading to his vocal fold scarring. The mild blunting of the anterior commissure noted on exam, in our opinion, would not affect voice quality as much as the diffuse reduction in vocal fold vibration. Nevertheless, it is plausible or even likely that HHT also contributed to this blunting if there were anterior commissure telangiectasias that hemorrhaged and subsequently healed with scar formation. Had the patient presented with fresh vocal fold hemorrhage or small volume hemoptysis, we may have considered photoangiolytic laser therapy to prophylactically treat the telangiectasias and, it is hoped, prevent future hemorrhage. Massive hemoptysis is unlikely to result from a laryngeal source and is most characteristic of ruptured pulmonary AVM given the well-documented association.5
Figure 1. Rigid endoscopy of the glottis demonstrating erythematous vocal folds with telangiectasias posteriorly.
stroboscopy, the vocal folds demonstrated reduced vibratory parameters and irregular glottic closure at all pitches. The patient was diagnosed with vocal fold stiffness and scarring secondary to presumed past submucosal vocal fold hemorrhages with subsequent counterproductive compensation with ventricular phonation. Because the patient had existing stiffness and scarring without hemoptysis or fresh hemorrhage, no procedural intervention was performed. Voice therapy was offered; however, the patient was unable to make these sessions due to a subsequent hospitalization for HHT complications.
Conclusion Hereditary hemorrhagic telangiectasia may present as dysphonia with vocal fold telangiectasias and place patients at risk of vocal fold hemorrhage, especially when undergoing anticoagulation. Patients presenting with HHT-related vocal fold telangiectasias may benefit from prophylactic photoangiolytic laser therapy. Declaration of Conflicting Interests The author(s) declared no potential conflicts of interest with respect to the research, authorship, and/or publication of this article.
Funding The author(s) received no financial support for the research, authorship, and/or publication of this article.
Discussion Although the diagnosis of HHT has been recognized since the 19th century, a comprehensive literature search revealed no documentation of HHT, telangiectasias, or Osler-WeberRendu syndrome associated with dysphonia, vocal folds, voice, or larynx. As a result, this current case is unique in that it is the first report of vocal fold telangiectasias secondary to HHT as well as the first documentation of voice dysfunction secondary to HHT. This is an interesting case report that helps to broaden the differential diagnosis when evaluating patients with dysphonia and glottic lesions. Although dysphonia and vocal fold scarring may result from endotracheal intubation, this patient developed symptoms approximately 2 years following his only surgery, thus making intubationrelated trauma an unlikely etiology. Instead, this case suggests that vocal fold telangiectasias from HHT, especially in conjunction with anticoagulation, may be a risk factor for vocal fold hemorrhage. There was no fresh vocal fold hemorrhage noted on his examination; however, the patient’s
References 1. Guttmacher AE, McKinnon WC, Upton MD. Hereditary hemorrhagic telangiectasia: a disorder in search of the genetics community. Am J Med Genet. 1994;52(2):252-253. 2. Aassar OS, Friedman CM, White RI Jr. The natural history of epistaxis in hereditary hemorrhagic telangiectasia. Laryngoscope. 1991;101(9):977-980. 3. Plauchu H, de Chadarevian JP, Bideau A, Robert JM. Agerelated clinical profile of hereditary hemorrhagic telangiectasia in an epidemiologically recruited population. Am J Med Genet. 1989;32(3):291-297. 4. Shovlin CL, Jackson JE, Bamford KB, et al. Primary determinants of ischaemic stroke/brain abscess risks are independent of severity of pulmonary arteriovenous malformations in hereditary haemorrhagic telangiectasia. Thorax. 2008;63(3):259-266. 5. Ference BA, Shannon TM, White RI Jr, Zawin M, Burdge CM. Life-threatening pulmonary hemorrhage with pulmonary arteriovenous malformations and hereditary hemorrhagic telangiectasia. Chest. 1994;106(5):1387-1390.
Downloaded from aor.sagepub.com at University of Bath - The Library on June 9, 2015
