Left Atrial Appendage Occlusion in Hereditary Haemorrhagic Telangiectasia Patients (Rendu Osler Syndrome) With Non-Valvular Atrial Fibrillation: Prevention of Cardioembolic Events While Avoiding the Long-Term Risks of Oral Anticoagulation.

BACKGROUND/PURPOSE: Hereditary haemorrhagic telangiectasia (HHT) (Osler-Weber-Rendu Syndrome) is an inherited vascular disorder, associated with arteriovenous malformations and bleeding events. Despite potential benefits, data regarding the use of left atrial appendage occlusion (LAAO) in HHT patients with non-valvular atrial fibrillation (NVAF) is scarce. The aim of the present paper was to assess the outcomes of HHT patients undergoing LAAO. METHODS/MATERIALS: This multicentre observational study included all consecutive patients with NVAF and a previous diagnosis of HHT who underwent LAAO between 2015 and December 2020. The follow-up protocol included a clinical control at 3 months after hospital discharge, and then yearly. RESULTS: Overall, 822 subjects undergoing LAAO were initially screened for the study. Among them, 7 patients had previous diagnosis of HHT. Device implant success was achieved in all patients and non-procedural adverse event were observed. At the maximum follow-up (median follow up = 470.5 days), no ischemic strokes or device related thrombosis (DRT) were reported. Absence of antithrombotic treatment after LAAO was not associated with an increased risk of stroke or DRT. CONCLUSIONS: LAAO might represent a promising non-pharmacological alternative to prevent thromboembolic events in patients with HHT and NVAF.

Extensive Osler-Rendu disease in a breast cancer patient: increasing hepatic arteriovenous malformations under endocrine therapy mimicking liver metastases.

BACKGROUND: Undefined, increasing hepatic lesions are a common issue in the follow-up care of breast cancer patients and frequently result in invasive diagnostic procedures. CASE REPORT: This case report describes the diagnostic approach in the case of a 58-year-old breast cancer patient with a previously unknown visceral involvement of Osler-Rendu disease. The patient was admitted to our institution because of newly diagnosed, increasing hepatic lesions occurring during endocrine treatment with aromatase inhibitors. On the basis of ultrasound findings, secondary liver metastases were suspected. After a thorough clinical and imaging examination, we reviewed the literature on typical radiological findings of visceral involvement of Osler-Rendu disease, and the impact of endocrine treatment on arteriovenous malformations. Multislice computed tomography scan identified the hepatic lesions as arteriovenous malformations. In the current literature, there are no reports available on the interaction between aromatase inhibitors and arteriovenous malformations. However, some data do show an effect of endocrine therapy with estrogen/progesterone, or tamoxifen on arteriovenous malformations, although some of the results are partially contradictory. CONCLUSION: This case report demonstrates that for undefined hepatic lesions in breast cancer patients, extensive Osler-Rendu disease should be considered as a potential differential diagnosis. Furthermore, we discuss the possible influence of aromatase inhibitors on arteriovenous malformations.

[Hereditary hemorrhagic telangiectasia as a cause of iron-deficiency anemia]. / Telangiectasia hemorrágica hereditaria como causa de anemia ferropénica.

We reviewed cases with Rendu-Osler disease or hereditary hemorrhagic telangiectasia (HHT) between 1976 and 1989 in our area of internal medicine. Of the ten reported cases, six presented severe iron deficiency anemia-three as a result of repeated and intense epistaxis and the rest as a result of digestive losses. The most frequent clinical manifestations were: epistaxis (80%) and the presence of characteristic mucocutaneous lesions easily explored by sight (80%). We emphasize the role of this disease as a cause of iron deficiency anemia and the importance of clinical exploration.

The tourniquet test as a diagnostic aid for the study of telangiectasia.

Telangiectasia, commonly called Rendu-Osler disease, in its uncomplicated state is a genetic trait, not a disease, which is transmitted as a dominant. It is difficult to diagnose because the identifying characteristics, which are collectively called telangiectases, are multiform. They often do not appear until adult life and frequently are secondary to extraneous or environmental factors such as alcohol, various drugs of which aspirin is an example, and, in a few subjects, exposure to sunlight. The tourniquet test is positive in a high percentage of cases. Eight patients have been selected for discussion to illustrate the application and helpfulness of this test in attaining a better evaluation of the clinical aspects of telangiectasia.