Patients with PAVM may have hypoxemia, orthodeoxia, chest pain, hemoptysis, paradoxical embolizations leading to stroke and brain abscess. Peutz-Jeghers Syndrome is a disease characterized by the development of hamartomatous polyps in the gastrointestinal tract, mucocutaneous melanotic pigmentation and high risk of cancer. This is a case-report of the fortuitous association of these 2 diseases.
What is already known about the topic?
- Most PAVM are inherited and are present in 80% - 95% of patients with Hereditary Haemorrhagic Telangiectasia (HHT).
- HHT and PJS are inherited autosomal dominant diseases.
- Spontaneous bleeding from a PAVM is rare but is the leading cause of fetal-maternal death (1%) during pregnancy.
- MAVPs tend to increase in size over time. Pregnancy and puberty are potential factors that induce growth.
- Percutaneous embolization of malformations is the treatment of choice when the diameter of the feeder arteries exceeds 2-3 mm.
- Patients with PJS have an increased risk of epithelial cancer (colorectal, gastric, pancreatic, mammary and ovarian).
What does this article bring up for us?
- According to the current guidelines, a chest CT scan of MAVP should be performed every 3 years, as well as after puberty, after pregnancy and before any scheduled pregnancy. In order to limit radiation exposure during screening, a contrasted echocardiography (Bubble test) may be recommended as initial examination. If the bubble test is negative or reveals a grade 1 SDG, there is no indication for a thoracic CT scan.
Pulmonary Arteriovenous Malformations, Hereditary Haemorrhagic Telangiectasia and Peutz Jeghers syndrome.