Diagnosis of hereditary hemorrhagic telangiectasia based on endoscopic detection of oral telangiectasias

A 58-year-old man presented with dizziness and a three-month history of recurrent epistaxis. Laboratory tests revealed severe microcytic anemia (hemoglobin: 5.3 g/dL), prompting hospitalization and blood transfusion. His medical history included hypertension and hyperlipidemia. Notably, his mother also had a history of frequent nosebleeds. Upper gastrointestinal endoscopy was performed to investigate potential gastrointestinal bleeding. Esophagogastroduodenoscopy revealed multiple reddish areas on the tongue ([Video 1], [Fig. 1], arrows). Small red dots were observed on the palate, consistent with telangiectasia ([Fig. 2], arrow). Additionally, reddish lesions were observed at the base of the tongue ([Fig. 3], arrow). These findings suggested hereditary hemorrhagic telangiectasia (HHT). Scattered telangiectasias were identified in the stomach, further supporting the diagnosis ([Fig. 4], arrows). Contrast-enhanced computed tomography revealed a contrast-enhancing hepatic lesion, likely a hemangioma ([Fig. 5], arrow). However, no arteriovenous malformations were observed in the lungs or brain.

Fig. 1 Esophagogastroduodenoscopy showing multiple reddish areas on the tongue (arrows).

Fig. 2 Esophagogastroduodenoscopy showing small red dots on the palate (arrow).

Fig. 3 Esophagogastroduodenoscopy showing blood blister-like protruded lesions at the base of the tongue (arrow).

Fig. 4 Esophagogastroduodenoscopy showing telangiectasia in the stomach (arrows).

Fig. 5 Contrast-enhanced computed tomography showing a hepatic mass with peripheral contrast enhancement, suspected to be a hemangioma.

Video of oral observation via esophagogastroduodenoscopy, showing reddish lesions on the tongue and palate.Video 1

The patient fulfilled the three Curaçao diagnostic criteria for HHT [1]: recurrent epistaxis, mucocutaneous telangiectasia, and visceral involvement (gastric telangiectasia and hepatic lesions). Although the patient’s family history could not be definitively confirmed, his mother’s history of frequent epistaxis was suggestive of a hereditary component.

HHT is an autosomal-dominant vascular disorder characterized by mucocutaneous telangiectasias and arteriovenous malformations in various organs, including the lungs, brain, liver, and gastrointestinal tract. Clinical manifestations vary widely and may lead to life-threatening complications, such as hemorrhage, stroke, or high-output cardiac failure, if left undiagnosed [2] [3] [4]. Therefore, early recognition is essential to prevent serious outcomes through appropriate surveillance and management of arteriovenous malformations. This case highlights the diagnostic value of oral endoscopic findings in patients with HHT, leading to further systemic evaluation. Careful inspection of the oral cavity, including the tongue and palate, in patients with recurrent epistaxis can facilitate early diagnosis and timely management of this multisystem vascular disorder.

Endoscopy_UCTN_Code_CCL_1AB_2AB

 

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Conflict of Interest

The authors declare that they have no conflict of interest.

• References

• 1 McDonald J, Bayrak-Toydemir P, DeMille D. et al. Curaçao diagnostic criteria for hereditary hemorrhagic telangiectasia is highly predictive of a pathogenic variant in ENG or ACVRL1 (HHT1 and HHT2). Genet Med 2020; 22: 1201-1205
• 2 Niklasson J, Rönnblom A, Lidian A. et al. Oral manifestations and dental considerations of patients with hereditary hemorrhagic telangiectasia: a scoping review. Oral Surg Oral Med Oral Pathol Oral Radiol 2023; 136: 691-702
• 3 Brinjikji W, Iyer VN, Sorenson T. et al. Cerebrovascular manifestations of hereditary hemorrhagic telangiectasia. Stroke 2015; 46: 3329-3337
• 4 Dupuis-Girod S, Cottin V, Shovlin CL. The lung in hereditary hemorrhagic telangiectasia. Respiration 2017; 94: 315-330

Publication History

Article published online:
25 July 2025