Hereditary Hemorrhagic Telangiectasia (HHT) Flashcards
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: 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, nose) or on fingers.
3) Visceral AVMs (lungs, brain, liver, gastrointestinal tract)
4) Family history of HHT.
Fill in the blank: HHT is diagnosed based on clinical criteria and __________ testing.
genetic
What is Hereditary Hemorrhagic Telangiectasia (HHT)?
HHT is a genetic disorder that leads to abnormal blood vessel formation, resulting in frequent bleeding.
True or False: HHT is also known as Osler-Weber-Rendu syndrome.
True
Fill in the blank: HHT is inherited in an __________ pattern.
Autosomal dominant
(mutations in ENG, ALK1, or SMAD4).
Which gene mutations are commonly associated with HHT?
Mutations in:
- ENG (endoglin)
- ACVRL1
- ALK-1
- SMAD4
True or False: HHT only affects the skin and mucous membranes.
False
Recurrent epistaxis, mucocutaneous telangiectasias, visceral AVMs (lungs, brain, liver, GI tract), anemia, and cyanosis.
What are the common clinical manifestations of HHT?
Common manifestations include epistaxis (nosebleeds), telangiectasia, and arteriovenous malformations.
What is the most common symptom of HHT?
The most common symptom is recurrent nosebleeds (epistaxis).
Fill in the blank: Patients with HHT should be monitored for __________ malformations.
pulmonary arteriovenous
Why can pulmonary AVMs cause paradoxical embolism in HHT?
Pulmonary AVMs allow blood to bypass the lungs, leading to shunting and potential embolism of venous thrombi into systemic circulation.
What imaging technique is often used to diagnose arteriovenous malformations in patients with HHT?
MRI (Magnetic Resonance Imaging) is often used to diagnose arteriovenous malformations.
True or False: HHT can lead to serious complications such as stroke.
True
AV malformations in the lungs can result in paradoxical strokes.
What is the recommended treatment for severe nosebleeds in HHT patients?
Nasal cauterization or laser therapy is recommended for severe nosebleeds.
Multiple choice: Which of the following is a hallmark feature of HHT?
A) Hypertensive crises
B) Telangiectasia
C) Frequent infections
D) Joint pain
B) Telangiectasia
Multiple choice: Which of the following is a common non-bleeding symptom of HHT?
A) Fatigue
B) Weight gain
C) Fever
D) Joint pain
A) Fatigue
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
C) Hypertension
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: 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.
What is the role of genetic testing in HHT?
Genetic testing can confirm the diagnosis and identify at-risk family members.
What is the significance of screening family members for HHT?
Screening family members is important for early diagnosis and management of the condition.
What is a common method for managing gastrointestinal bleeding in HHT patients?
Endoscopic therapy is a common method for managing gastrointestinal bleeding.
Multiple choice: Which of the following is a characteristic finding in HHT?
A) Hyperpigmentation
B) Telangiectasia
C) Joint swelling
D) Hair loss
B) Telangiectasia
What type of specialist is often involved in the management of HHT?
A vascular specialist or a geneticist is often involved in the management of HHT.
Fill in the blank: Patients with HHT are at increased risk for __________ disease.
pulmonary vascular
What is the main goal of treatment for patients with HHT?
The main goal is to prevent and manage bleeding complications.
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: 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.
What is the mainstay of treatment for pulmonary AVMs in HHT?
Embolization is the main treatment for pulmonary AVMs to prevent complications like strokes and paradoxical embolism.
What is the importance of avoiding certain medications in HHT patients?
Certain medications, like anticoagulants, can increase the risk of bleeding in HHT patients.
What lifestyle modifications can help manage HHT symptoms?
Avoiding trauma, managing bleeding episodes, and regular medical check-ups can help manage symptoms.
What is a key factor in the prognosis of HHT?
The presence and severity of arteriovenous malformations significantly affect prognosis.
