Interdisciplinary management of patients with hereditary hemorrhagic telangiectasia (HHT) at a German Center of Excellence

Objectives: Hereditary Hemorrhagic Telangiectasia (HHT) is a genetic disorder characterized by recurrent epistaxis, mucocutaneous telangiectases, and visceral arteriovenous malformations (AVM). An interdisciplinary concept is recommended.

Methods:

We performed a retrospective review of consecutive patients referred to our newly formed HHT center of excellence (COE) for evaluation and treatment between April 2014 and September 2017.

Results:

192 patients with HHT attended our center. 93% patients had typical telangiectasia (n = 179) and 94% of HHT patients (n = 180) suffered from epistaxis. 96 patients were trained in using nasal self-packings with different devices. Surgically 29 patients received laser ablation and 15 patients a nasal closure. A gastrointestinal involvement was diagnosed in 34% of the patients (56/167), and 40 patients (71%) underwent an endoscopic ablation. Most patients were diagnosed with anaemia (average Hb-level: 11.1 g/dl) and received iron preparations. Pulmonary and cerebral screening was recommended in all patients. Almost one third of the screened patients suffered from pulmonary (32%, 49/152) and 10% (14/134) from cerebral vascular malformations. All patients received a medical information card documenting their pulmonary screening status and need for antibiotic prophylaxis following the endocarditis guidelines. Hepatic vascular malformations were detected in 29% of the examined patients (33/113).

Conclusion:

A HHT COE is important to provide comprehensive care for patients with this rare disease. Having an HHT COE allows early screening for pulmonary and cerebral AVM and subspecialty referral within a system of specialists experienced in preventing the morbidity associated with severe epistaxis and internal organ AVM.

Publication History

Publication Date:
18 April 2018 (online)