[Hemoptysis in an elderly man with RENDU-Osler-Weber disease]

Area of Science:

• Medical Genetics
• Vascular Biology
• Pulmonology

Background:

• Rendu-Osler-Weber disease (ROW), also known as hereditary haemorrhagic telangiectasia (HHT), is an autosomal dominant genetic disorder.
• It is characterized by the development of multiple angiodysplastic lesions and arteriovenous malformations (AVMs).
• Pulmonary AVMs are the most common manifestation, affecting approximately 70% of HHT patients.

Observation:

• A case study of an 85-year-old man presenting with haemoptysis and epistaxis during a pulmonary infection.
• Diagnostic evaluation revealed a voluminous pulmonary arteriovenous malformation.
• This finding is significant as 90% of patients with pulmonary AVMs are recognized to have HHT.

Findings:

• The patient's symptoms of haemoptysis and epistaxis were linked to a large pulmonary AVM.
• The case underscores the high prevalence of HHT in individuals presenting with pulmonary AVMs.
• This highlights the importance of considering HHT in the differential diagnosis of unexplained bleeding in patients with pulmonary AVMs.

Implications:

• Early diagnosis and management of HHT are crucial to prevent complications associated with AVMs.
• This case emphasizes the need for thorough investigation of bleeding symptoms in patients with known or suspected pulmonary AVMs.
• Understanding the genetic basis and clinical manifestations of HHT can improve patient outcomes and therapeutic strategies.