TY - JOUR
T1 - Pulmonary arteriovenous malformations may be the only clinical criterion present in genetically confirmed hereditary haemorrhagic telangiectasia
AU - Anderson, Emily
AU - Sharma, Lakshya
AU - Alsafi, Ali
AU - Shovlin, Claire L
N1 - © Author(s) (or their employer(s)) 2022. Re-use permitted under CC BY-NC. No commercial re-use. See rights and permissions. Published by BMJ.
PY - 2022/2/14
Y1 - 2022/2/14
N2 - Pulmonary arteriovenous malformations (PAVMs) result in preventable complications demanding specialty care. Underlying hereditary haemorrhagic telangiectasia (HHT) can be identified by genetic testing, if the diagnosis is considered. Retrospectively reviewing 152 unrelated adults with genetically confirmed HHT due to ACVRL1, ENG or SMAD4, we found that only 104/152 (68%) met a clinical diagnosis of HHT with three Curaçao criteria. The genetic diagnostic rate was similar for patients with three (104/137, 76%) or one to two (48/71, 68%; p=0.25) criteria. Of 83 unrelated probands with PAVM(s) and genetically-confirmed HHT, 20/83 (24%) had few, if any, features of HHT. Enhanced clinical suspicion, as well as HHT genetic testing, is recommended if one or more PAVMs are present.
AB - Pulmonary arteriovenous malformations (PAVMs) result in preventable complications demanding specialty care. Underlying hereditary haemorrhagic telangiectasia (HHT) can be identified by genetic testing, if the diagnosis is considered. Retrospectively reviewing 152 unrelated adults with genetically confirmed HHT due to ACVRL1, ENG or SMAD4, we found that only 104/152 (68%) met a clinical diagnosis of HHT with three Curaçao criteria. The genetic diagnostic rate was similar for patients with three (104/137, 76%) or one to two (48/71, 68%; p=0.25) criteria. Of 83 unrelated probands with PAVM(s) and genetically-confirmed HHT, 20/83 (24%) had few, if any, features of HHT. Enhanced clinical suspicion, as well as HHT genetic testing, is recommended if one or more PAVMs are present.
KW - Activin Receptors, Type II/genetics
KW - Adult
KW - Arteriovenous Fistula
KW - Arteriovenous Malformations/complications
KW - Humans
KW - Pulmonary Artery/abnormalities
KW - Pulmonary Veins/abnormalities
KW - Retrospective Studies
KW - Telangiectasia, Hereditary Hemorrhagic/diagnosis
UR - https://www.scopus.com/pages/publications/85130646030
U2 - 10.1136/thoraxjnl-2021-218332
DO - 10.1136/thoraxjnl-2021-218332
M3 - Article
C2 - 35165143
SN - 0040-6376
VL - 77
SP - 628
EP - 630
JO - Thorax
JF - Thorax
IS - 6
ER -