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Hereditary Hemorrhagic Telangiectasia

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Hereditary Hemorrhagic Telangiectasia

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Hereditary Hemorrhagic Telangiectasia

Hair-red Hemorrhage-hammer with Tarantula-taser
sesanch1
10 KEY FACTS
PATHOPHYSIOLOGY
Autosomal Dominant
Domino

Hereditary hemorrhagic telangiectasia is inherited in an autosomal dominant modality. This means one copy of the abnormal gene must be present in order for the disease to develop.

Mutation in TGF-beta
Mutant Transformer-giant-flagger-Beta-fish

Hereditary hemorrhagic telangiectasia involves the mutation of various genes that code for TGF-beta (e.g., ALK-1). These mutations then lead to structural defects in the vessel walls, which contribute to venous pooling and the development of small or large arteriovenous shunts.

CLINICAL FEATURES
Nosebleed (Epistaxis)
Nose-bleeding

The clinical features of hereditary hemorrhagic telangiectasia can involve recurring epistaxis, telangiectasia of the mucosa and skin, GI bleeding, hematuria, and the formation of AVMs.

Telangiectasias
Tarantula-taser

The clinical features of hereditary hemorrhagic telangiectasia can involve recurring epistaxis, telangiectasia of the mucosa and skin, GI bleeding, hematuria, and the formation of AVMs.

GI Bleeding
GI-guy Bleeding

The clinical features of hereditary hemorrhagic telangiectasia can involve recurring epistaxis, telangiectasia of the mucosa and skin, GI bleeding, hematuria, and the formation of AVMs.

Hematuria
Red-urinal

The clinical features of hereditary hemorrhagic telangiectasia can involve recurring epistaxis, telangiectasia of the mucosa and skin, GI bleeding, hematuria, and the formation of AVMs.

AVM Formation
A Tangle of Blood Vessels

The clinical features of hereditary hemorrhagic telangiectasia can involve recurring epistaxis, telangiectasia of the mucosa and skin, GI bleeding, hematuria, and the formation of AVMs. The formation of AVMs (e.g., liver, lung, brain) results in an abnormal connection of a high-flow nature between an artery and a vein.

DIAGNOSIS
Curaçao Criteria
Blue Curaçao

The diagnosis of hereditary hemorrhagic telangiectasia involves the curaçao criteria. This criterion encompasses nosebleeds (epistaxis), telangiectasias, any signs of visceral involvement, and/or a family history.

Genetic Testing
Genes and Test-tubes

Hereditary hemorrhagic telangiectasia can be diagnosed either through specific criteria or through genetic testing.

COMPLICATION
High Output Heart Failure
High Output Dead Heart

A complication of hereditary hemorrhagic telangiectasia involves high-output cardiac failure. Other potential complications include anemia due to chronic GI bleeding or hematuria and a brain abscess or stroke due to AV shunt development bypassing normal lung functioning, thereby allowing emboli to enter arterial circulation.

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