Case report of a tuberculosis manifestation in Hereditary hemorrhagic telangiectasia

Background Hereditary hemorrhagic telangiectasia (HHT), an autosomal dominant genetic disease, is one of the common rare diseases. The prevalence of HHT is estimated to be 1:8000. Patients suffer from systemic arteriovenous malformations (AVM). In approximately 30% the lungs are affected (PAVM). To exclude pulmonary manifestations, screening examinations are recommended to every HHT-patient (“bubble contrast TTE”, in case of abnormalities: CT/MRI). Clinical studies have shown that patients with HHT are suffering more often from infections. There are also shown immunological changes in HHT patients suggesting an immunosuppression in these patients. This case report describes a patient in whom tuberculosis was identified because of a pulmonary nodule, additionally to PAVM

Case report A 68-year-old female was admitted to the hospital due to HHT with recurrent epistaxis, typical telangiectasia, and a positive family history. For pulmonary diagnosis a CT scan of the thorax was carried out elsewhere. In addition to typical pulmonary arteriovenous malformations, two solid round nodules were also identified. Due to suspicion of a bronchial carcinoma a sample was taken. Microbiologically haemophilus influenzae was confirmed. Subsequently, the appropriate therapy was initiated. However, at the time of presentation in our clinic, the size of the pulmonary nodules had increased. Thus, a repeated biopsy of the nodules was performed and tuberculosis was diagnosed. The appropriate therapy was then initiated.

Summary We report on an HHT-patient with CT-morphological pulmonary arteriovenous malformations and two solid tuberculosis nodules. As a differential diagnosis, in addition to arteriovenous malformations, infections of the lung should also be kept in mind.

Poster-PDF A-1660.pdf

Conflict of interest

Der Erstautor gibt keinen Interessenskonflikt an.

Publication History

Article published online:
13 May 2021