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Background: The incidence of hereditary haemorrhagic telangiectasia (HHT - Osler-Weber-Rendu disease) in the Netherlands is 1:5000 but approximately 1:1300 in people from the Antilles. The disease is characterised by the development of telangiectasia and arteriovenous malformations (AVMs) that may result in serious morbidity and mortality., Case Description: A 31-year-old primigravid patient consulted her general practitioner at 31 1/7 weeks gestational age with dyspnoea. She was referred for further diagnostics because of suspected pulmonary embolism. A CT scan showed haemothorax and a bleeding arteriovenous malformation (AVM) in the left lung. Family history suggested the possibility of HHT. After multidisciplinary consideration, a primary caesarean section was performed, followed by embolisation of the AVM during the same surgical session. The patient had a gene mutation consistent with HHT type 2., Conclusion: Pregnant patients with HHT are at risk of serious morbidity, especially if they are not screened for AVMs. A multidisciplinary approach for such patients, with consideration of various scenarios, is highly recommended.

Background: Germline mutations in the SMAD4 gene lead to both juvenile polyposis syndrome and hereditary haemorrhagic telangiectasia (HHT)., Case Description: A 23-year-old man underwent colectomy with ileo-anal pouch anastomosis at the age of 12 due to colorectal juvenile polyposis. At follow-up, recurrent juvenile polyps in the pouch were removed. No gastric polyps were found. The family history was negative for intestinal polyposis. In addition, the patient had recurrent epistaxis. DNA testing revealed a pathogenic SMAD4 mutation: c.1558G>T; p.(Glu520*). Further examination confirmed suspected HHT., Conclusion: DNA testing in patients with juvenile polyposis is important for subclassification of this syndrome with implications for the management of patients and family members.

Rendu-Osler-Weber disease or hereditary hemorrhagic telangiectasia (HHT) is a multisystem autosomal dominant hereditary disorder. The disorder is manifested by multiple dysplasia of blood vessels of the skin and mucous membranes. This results in recurrent and sometimes severe bleeding, of which epistaxis is the most common. Cardial, pulmonary and cerebral manifestations can be responsible for complications. A patient is presented with Rendu-Osler-Weber disease followed by a review of literature.

The Rendu-Osler-Weber disease is due to an autosomal dominant disease with multiple telangiectasia in skin and mucosa. Recurrent bleeding of the nose is due to telangiectasia of the nasal mucosa. Haemorrhage of the oral mucosa also occurs. Extensive arteriovenous malformations can be present in lungs, liver and brain. Treatment of bleedings in the oral mucosa is easily possible by means of coagulation. Patients with pulmonary arteriovenous malformations should receive prophylactic antibiotic treatment before extractions, removal of third molars and subgingival curettage.