Hereditary hemorrhagic telangiectasia type 1 with an ENG nonsense mutation presenting with severe pulmonary hypertension and recurrent pulmonary arteriovenous malformations in a nonagenarian: a case report
Year: 2026
Type: article
Abstract: Background Hereditary hemorrhagic telangiectasia type 1 (HHT1) is caused by mutations in the ENG gene, with functional deficiency of endoglin serving as the core pathogenic mechanism leading to multiple arteriovenous malformations. Nonsense mutations in ENG typically result in a truncated protein and induce haploinsufficiency, representing a key pathogenic mechanism underlying HHT1. Case presentation We report a 90-year-old patient with HHT1 presenting with spontaneous epistaxis, lingual telangiectasias, and recurrent pulmonary arteriovenous malformations (PAVMs). The patient had undergone surgical resection of PAVMs in 1956 and 2000, and presented this time with recurrent PAVMs complicated by pulmonary hypertension. Genetic testing identified a heterozygous nonsense mutation c.229C>T (p.Gln77Ter) in the ENG gene. Conclusion This case highlights the need for lifelong surveillance for PAVMs recurrence in ENG mutation carriers. Furthermore, it underscores that in very elderly patients with HHT, management should shift toward an individualized, patient-centered conservative approach.
Source: Frontiers in Medicine
Institutions: Chinese People's Liberation Army, Jinzhou Medical University
Language: English
Subfield: Genetics (clinical)
Field: Medicine
Domain: Health Sciences
Open Access status: gold
Estimated APC paid: $3,801
OpenAlex ID: W7225636368