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Hereditary hemorrhagic telangiectasia
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Hereditary hemorrhagic telangiectasia, which used to be called Osler-Weber-Rendu disease, is a disease that runs in families and leaves blood vessels malformed. It is inherited in an autosomal dominant pattern.
Normally blood travels out through an artery, passes through the capillaries, which are the smallest vessels, and goes on from there into the veins. In this disease some arteries empty straight into a vein and skip that step: that is an arteriovenous malformation. The capillaries are the cushion, and without them blood enters thin-walled, poorly elastic veins at high pressure. It is like hooking a pressurized hose to a balloon: the balloon cannot take much.
That is where the bleeding comes from. Telangiectasias are dilated vessels that can be seen on the skin and on the mucosa, and epistaxis, bleeding from the nose, happens again and again and is usually the first sign of the disease.
In brief
Hereditary hemorrhagic telangiectasia, once called Osler-Weber-Rendu, is an inherited autosomal dominant disease that leaves blood vessels malformed.
In it, some arteries empty directly into veins instead of passing through the capillaries; without that cushion, blood enters thin-walled, poorly elastic veins at high pressure.
It is like hooking a pressurized hose to a balloon: the balloon cannot take much.
These malformations explain the bleeding: telangiectasia, a dilated vessel visible on the skin and mucosa, and repeated epistaxis, usually the first sign.
Sources (2)
- National Center for Biotechnology Information, StatPearls PublishingHereditary Hemorrhagic Telangiectasia (HHT), StatPearlsPublished
- MedlinePlus Genetics, U.S. National Library of MedicineHereditary hemorrhagic telangiectasia, MedlinePlus GeneticsPublished
This page explains the topic in general terms; it does not tell anyone what treatment to follow.
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