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Patient case: Hereditary Haemorrhagic Telangiectasia

Discussion

A 45-year-old male presents with a history of frequent nosebleeds over the past few years, which have been increasing in frequency and severity. He reports that the nosebleeds often occur without any clear trigger and can last for several minutes before stopping. His medical history includes iron deficiency anemia, for which he has been taking iron supplements. He also mentions that his mother and sister have similar issues with frequent nosebleeds and easy bruising. On physical examination, multiple small, red spots (telangiectasias) are observed on the patient’s lips, tongue, and fingers. The patient is diagnosed with Hereditary Haemorrhagic Telangiectasia (HHT), a genetic disorder that leads to abnormal blood vessel formation. He is advised on managing his symptoms and referred for further genetic counseling and vascular assessment to prevent potential complications, such as arteriovenous malformations in internal organs.

 

Questions
1. What is the most common presenting symptom of Hereditary Haemorrhagic Telangiectasia (HHT)?

a) Headaches

b) Nosebleeds

c) Skin rashes

d) Coughing up blood

2. Which family members of the patient mentioned in the case also exhibit similar symptoms?

a) Father and uncle

b) Mother and sister

c) Brother and cousin

d) Grandfather and aunt

3. What physical finding is characteristic of Hereditary Haemorrhagic Telangiectasia?

a) Swollen lymph nodes

b) Telangiectasias on the lips, tongue, and fingers

c) Bruising on the lower extremities

d) Enlarged tonsils

4. What complication is the patient at risk for due to Hereditary Haemorrhagic Telangiectasia? 

a) Arteriovenous malformations in internal organs

b) Chronic kidney disease

c) Chronic sinusitis

d) Pulmonary embolism

Reveal answers

Answers

1. b) Nosebleeds

2. b) Mother and sister

3. b) Telangiectasias on the lips, tongue, and fingers

4. a) Arteriovenous malformations in internal organs