Hereditary Hemorrhagic Telangiectasia (HHT)

Question 1

A 42-year-old man presents with recurrent nosebleeds since childhood. On examination, he has small red lesions on his tongue and lips. He denies a history of bleeding disorders. Imaging reveals an arteriovenous malformation (AVM) in the lungs. Which of the following criteria is most likely used to establish the diagnosis?

A) Revised Ghent criteria
B) Bethesda criteria
C) Amsterdam criteria
D) Curacao criteria
E) Berlin criteria

Answer 1

Answer: D) Curacao criteria

Explanation:
Curacao criteria are used to diagnose HHT, requiring at least 3 of the following:

1) Recurrent epistaxis
2) Mucocutaneous telangiectasias (lips, oral cavity, fingers, nose)
3) Visceral AVMs (lungs, brain, liver, gastrointestinal tract)
4) Family history of HHT.

Question 2

Fill in the blank: HHT is diagnosed based on clinical criteria and __________ testing.

Answer 2

genetic

Question 3

What is Hereditary Hemorrhagic Telangiectasia (HHT)?

Answer 3

HHT is a genetic disorder that leads to abnormal blood vessel formation, resulting in frequent bleeding.

Question 4

True or False: HHT is also known as Osler-Weber-Rendu syndrome.

Answer 4

True

Question 5

Fill in the blank: HHT is inherited in an __________ pattern.

Answer 5

Autosomal dominant

(mutations in ENG, ALK1, or SMAD4).

Question 6

Which gene mutations are commonly associated with HHT?

Answer 6

Mutations in:
- ENG (endoglin)
- ACVRL1
- ALK-1
- SMAD4

Question 7

True or False: HHT only affects the skin and mucous membranes.

Answer 7

False

Recurrent epistaxis, mucocutaneous telangiectasias, visceral AVMs (lungs, brain, liver, GI tract), anemia, and cyanosis.

Question 8

What are the common clinical manifestations of HHT?

Answer 8

Common manifestations include epistaxis (nosebleeds), telangiectasia, and arteriovenous malformations.

Question 9

What is the most common symptom of HHT?

Answer 9

The most common symptom is recurrent nosebleeds (epistaxis).

Question 10

Fill in the blank: Patients with HHT should be monitored for __________ malformations.

Answer 10

pulmonary arteriovenous

Question 11

Why can pulmonary AVMs cause paradoxical embolism in HHT?

Answer 11

Pulmonary AVMs allow blood to bypass the lungs, leading to shunting and potential embolism of venous thrombi into systemic circulation.

Question 12

What imaging technique is often used to diagnose arteriovenous malformations in patients with HHT?

Answer 12

MRI (Magnetic Resonance Imaging) is often used to diagnose arteriovenous malformations.

Question 13

True or False: HHT can lead to serious complications such as stroke.

Answer 13

True

AV malformations in the lungs can result in paradoxical strokes.

Question 14

What is the recommended treatment for severe nosebleeds in HHT patients?

Answer 14

Nasal cauterization or laser therapy is recommended for severe nosebleeds.

Question 15

Multiple choice: Which of the following is a hallmark feature of HHT?

A) Hypertensive crises
B) Telangiectasia
C) Frequent infections
D) Joint pain

Answer 15

B) Telangiectasia

Question 16

Multiple choice: Which of the following is a common non-bleeding symptom of HHT?

A) Fatigue
B) Weight gain
C) Fever
D) Joint pain

Answer 16

A) Fatigue

Question 17

Multiple choice: Which of the following is NOT a common complication of HHT?

A) Pulmonary arteriovenous malformations
B) Gastrointestinal bleeding
C) Hypertension
D) Cerebral arteriovenous malformations

Answer 17

C) Hypertension

Question 18

Which of the following features is NOT typically associated with hereditary hemorrhagic telangiectasia?

A) Mucocutaneous telangiectasias
B) Cyanosis due to pulmonary AVM shunting
C) Increased risk of venous thrombosis
D) Severe anemia due to chronic bleeding
E) Renal failure due to glomerular sclerosis

Answer 18

Answer: E) Renal failure due to glomerular sclerosis

Explanation: HHT is characterized by recurrent bleeding, anemia, mucocutaneous telangiectasias, AVMs, and complications like cyanosis (pulmonary AVMs) or paradoxical embolism. Renal failure is not a typical feature of HHT.

Question 19

What is the role of genetic testing in HHT?

Answer 19

Genetic testing can confirm the diagnosis and identify at-risk family members.

Question 20

What is the significance of screening family members for HHT?

Answer 20

Screening family members is important for early diagnosis and management of the condition.

Question 21

What is a common method for managing gastrointestinal bleeding in HHT patients?

Answer 21

Endoscopic therapy is a common method for managing gastrointestinal bleeding.

Question 22

Multiple choice: Which of the following is a characteristic finding in HHT?

A) Hyperpigmentation
B) Telangiectasia
C) Joint swelling
D) Hair loss

Answer 22

B) Telangiectasia

Question 23

What type of specialist is often involved in the management of HHT?

Answer 23

A vascular specialist or a geneticist is often involved in the management of HHT.

Question 24

Fill in the blank: Patients with HHT are at increased risk for __________ disease.

Answer 24

pulmonary vascular

Question 25

What is the main goal of treatment for patients with HHT?

Answer 25

The main goal is to prevent and manage bleeding complications.

Question 26

A 35-year-old woman with HHT is found to have a large pulmonary AVM during screening. Which of the following is the most appropriate management strategy for this condition?

A) Anticoagulation therapy
B) Embolization of the AVM
C) Lobectomy of the affected lung
D) Observation and follow-up imaging in 1 year
E) Administration of iron and folate supplementation

Answer 26

Answer: B) Embolization of the AVM

Explanation: Pulmonary AVMs in HHT should be managed with embolization to reduce the risk of complications such as paradoxical embolism and stroke. Anticoagulation should be avoided due to the risk of bleeding.

Question 27

What is the mainstay of treatment for pulmonary AVMs in HHT?

Answer 27

Embolization is the main treatment for pulmonary AVMs to prevent complications like strokes and paradoxical embolism.

Question 28

What is the importance of avoiding certain medications in HHT patients?

Answer 28

Certain medications, like anticoagulants, can increase the risk of bleeding in HHT patients.

Question 29

What lifestyle modifications can help manage HHT symptoms?

Answer 29

Avoiding trauma, managing bleeding episodes, and regular medical check-ups can help manage symptoms.

Question 30

What is a key factor in the prognosis of HHT?

Answer 30

The presence and severity of arteriovenous malformations significantly affect prognosis.