Pulmonary arteriovenous malformation and Peutz-Jeghers syndrome: literature review and discussion about diagnostic update, follow-up and treatment

Priscila Jijón(1), François Marolleau(2), Polycarpe Shango(3), Thierry Sluysmans(3), Stéphane Moniotte(3) Published in the journal : June 2018 Category : Pediatrics

Summary :

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.

Key words

Pulmonary Arteriovenous Malformations, Hereditary Haemorrhagic Telangiectasia and Peutz Jeghers syndrome.