- Marfan Syndrome
- Li-Fraumeni Syndrome (LFS)
- Job (Hyper IgE) Syndrome
- Hereditary Spherocytosis
- von Hippel-Lindau (VHL)
- MEN 1
- MEN 2
- Von Recklinghausen Disease (NF I)
- Neurofibromatosis Type II (NF II)
- Myotonic Dystrophy
Hereditary Hemorrhagic Telangiectasia (HHT), also known as Osler-Weber-Rendu Syndrome, is an autosomal dominant disorder of the blood vessels characterized by recurrent nosebleeds, spider-like blood vessels, and arteriovenous malformations (AVMs).
Specifically, the mutation creates an abnormal vasculature, and patients typically present with many telangiectasias (spider veins) and recurrent epistaxis (nosebleed). Visceral involvement can lead to gastrointestinal telangiectasias (leading to GI bleeds), pulmonary AVMs (a cause of embolic stroke and cerebral abscess), as well as cerebral AVMs (a cause of hemorrhagic stroke).
Find Hereditary Hemorrhagic Telangiectasia and other Autosomal Dominant Diseases among Pixorize's visual mnemonics for the USMLE Step 1 and NBME Shelf Exams.