HHT is a genetic condition that affects about 1 in 5000 people., and is characterised by multiple vascular malformations which can be seen over the skin, in the bowel, in the lungs and in the lining of the nose.
Patient’s typically present with multiple nose bleeds or gastrointestinal bleeds, on the background of multiple skin lesions. Presentations can also be seen with cerebral arteriovenous malformations and pulmonary arteriovenous malformations.
The diagnosis is initially a clinical one through taking a history and a physical examination. Genetic testing is also available.
Manifestations can also be investigated by
1. CT or MRI of the brain
2. CT of the chest
3. Pulmonary shunt study (ultrasound with bubbles)
4. Endoscopy of the bowel.
Dr Steinfort is an expert in minimally invasive, superselective endovascular techniques and has helped many HHT patients with recurrent epistaxis (nose bleeds), pulmonary vascular malformations and cerebral arteriovascular malformations. He runs regular clinics where he manages these patients.
If you have HHT and have not been fully investigated for these manifestations, you can telephone Dr Steinfort’s rooms to see if an appointment would be appropriate.
Other resources:
Links
