Full Form of HHT

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HHTstands for

Hereditary Hemorrhagic Telangiectasia

What is HHT?

Hereditary Hemorrhagic Telangiectasia (HHT), also known as Osler-Weber-Rendu syndrome, is a rare autosomal dominant genetic disorder that causes abnormal blood vessel formation. It leads to telangiectasias (small dilated blood vessels) on the skin and mucous membranes, recurrent nosebleeds (epistaxis), and arteriovenous malformations (AVMs) in organs like the lungs, liver, and brain. In India, HHT is encountered in clinical practice across dermatology, ENT, and interventional radiology departments. Diagnosis is based on the Curacao criteria, which include spontaneous recurrent epistaxis, multiple telangiectasias at characteristic sites, visceral lesions, and a family history. Management involves symptomatic treatment, laser therapy for telangiectasias, and embolization for AVMs. Awareness of HHT is growing among Indian healthcare professionals due to increased genetic testing and multidisciplinary care. For medical students and NEET PG aspirants, HHT is a high-yield topic in genetics, vascular disorders, and ENT chapters. Understanding its inheritance pattern and clinical features is crucial for exam success. The condition remains underdiagnosed in India, making knowledge of its presentation vital for early detection and prevention of complications such as stroke or brain abscess from pulmonary AVMs.

HHT का फुल फॉर्म

वंशानुगत रक्तस्रावी टेलैंजिएक्टेसिया

Example

The patient presented with recurrent epistaxis and multiple telangiectasias on her lips and fingers, prompting genetic testing that confirmed HHT.

HHT — frequently asked questions

What is the full form of HHT?
The full form of HHT is Hereditary Hemorrhagic Telangiectasia, also known as Osler-Weber-Rendu syndrome.
Is HHT a genetic disorder?
Yes, HHT is an autosomal dominant genetic disorder affecting blood vessel formation, with mutations in the ENG, ACVRL1, or SMAD4 genes.
What are common symptoms of HHT?
Common symptoms include recurrent nosebleeds, telangiectasias on the skin and mucous membranes, and arteriovenous malformations in organs like the lungs, liver, and brain.
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