Table 2.

Clinical Features of SMAD4-Related Hereditary Hemorrhagic Telangiectasia

Clinical Feature% of Individuals w/Clinical FeatureAge of Onset
Epistaxis61%-71% 1, 2Childhood 3
Telangiectases57% 2Often after 30 yrs 4
Mucocutaneous telangiectases48% 35-65 yrs 3
Pulmonary AVM53%-81% 2, 3Birth-52 yrs 3
Hepatic AVM38% 321-52 yrs 3
Intracranial AVM4% 3Mean 11 yrs (±7 yrs) 1
Aortopathy38% 4Median 24 yrs (range 21-48 yrs) 5, 6
Intrapulmonary shunting on echocardiogram61% 35-59 yrs 3

AVM = arteriovenous malformation


Wain et al [2014] reported the frequency of HHT-related symptoms in a cohort of 34 individuals with SMAD4 pathogenic variants.


From: Juvenile Polyposis Syndrome

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