Follow-up of pulmonary right-to-left shunt in hereditary haemorrhagic telangiectasia

Abstract

Pulmonary arteriovenous malformations (PAVMs) are associated with severe neurological complications in hereditary haemorrhagic telangiectasia (HHT). Transthoracic contrast echocardiography (TTCE) is recommended for screening of pulmonary right-to-left shunts (RLS). Although growth of PAVMs is shown in two small studies, no studies on follow-up with TTCE exist.All HHT patients underwent a second TTCE 5 years after initial screening. Patients with a history of PAVM embolisation were excluded. Pulmonary RLS grade on TTCE after 5 years was compared to the grade at screening.200 patients (53.5% female, mean±sd age at screening 44.7±14.1 years) were included. Increase in RLS grade occurred in 36 (18%) patients, of whom six (17%) underwent embolisation. The change in grade between screening and follow-up was not more than one grade. Of patients with nontreatable pulmonary RLS at screening (n=113), 14 (12.4%) underwent embolisation. In patients without pulmonary RLS at initial screening (n=87), no treatable PAVMs developed during follow-up.Within 5 years, no treatable PAVMs developed in HHT patients without pulmonary RLS at initial screening. Increase in pulmonary RLS grade occurred in 18% of patients, and never increased by more than one grade. Of patients with nontreatable pulmonary RLS at initial screening, 12% underwent embolisation.

Rare respiratory diseases are ready for primetime: from Rare Disease Day to the European Reference Networks

“…The current core networks are interstitial lung diseases [5][6][7][8][9][10][11][12][13][14][15][16][17][18][19][20][21], cystic fibrosis [22][23][24][25], pulmonary hypertension [26][27][28][29][30][31], primary ciliary dyskinesia [32][33][34][35][36][37], non-cystic fibrosis bronchiectasis [38][39][40], α 1 -antitrypsin deficiency [41], mesothelioma [42], chronic lung allograft dysfunction [43][44][45] and "other rare lung diseases" (e.g. pulmonary malformations, congenital central hypoventilation syndrome etc) [46][47][48][49]. In addition to these thematic subgroups, ERN-LUNG is also organised into functional committees whose aims are to tackle overarching topics affecting all of the current and future core networks, including research and clinical trials, ethical issues, registries and biobanks, patient-reported outcomes and ...…”

Expansion of pulmonary arteriovenous malformations after grand mal seizures and other circumstances of PAVM growth

“…For example, in a follow-up study of 20 patients over 11–13 years, nine patients showed slow radiographic progression (estimated at 0.3–2 mm/year) while 11 remained unchanged 11–13. If an increased right-to-left shunt can be taken as indicative of growth of PAVM, it was observed in 18% of 200 patients with HHT followed over 5 years 14. It appears that PAVMs as part of HHT are more prone to enlargement than ‘sporadic’ PAVMs that often remain stable 3 11.…”

Exertional hypoxia in a healthy adult: a pulmonary arteriovenous malformation

“…Strokes, brain abscesses, respiratory failure, life- threatening bleeding and haemothorax are considered the most severe complications reflected in the morbidity and mortality of PAVMs. PAVMs are normally stable with respect to growth; however, 25% will enlarge slowly, usually at a rate of 0.3–2 mm/year 22. PAVMs are not known to spontaneously resolve.…”