Misc

Question 1

HHT Genes

Answer 1

1. Endoglin on Chr 9
2. Activin receptor-like kinase 1 (ACVRL1) on Chr 12 (PAH more common with this gene)
   - Auto Dominant

Question 2

Curacao Criteria

Answer 2

1. Recurrent spontaneous epistaxis
2. Mucocutaneous telangietcasia
3. Visceral AVM
4. First degree relative with HHT

Question 3

Tx of PAVM

Answer 3

Embolotherapy if feeding artery >2-3mm (prevent paradoxical emboli and brain abscess)

Question 4

Massive hepatic hemangiomatosis treatment

Answer 4

1. Definitive tx is liver transplant

2. Bevacizumab (VEGF) can cause significant regression in AVMs and obviate the need for liver transplant

Question 5

Other precautions in HHT

Answer 5

1. Avoid Scuba (increased risk of venous air embolism)

2. PPx abx with dental or nonsterile procedures

Question 6

Tracheobronchial tree abnormalities that spare the posterior membrane

Answer 6

1. tracheobronchopathia osteochondroplastica

2. relapsing polychondritis

Question 7

Reverse S sign of Golden

Answer 7

RUL atelectasis + central carcinoma

Question 8

Luftsichel sign

Answer 8

lucency next to aortic nob (compensatory overinflation of sup seg of LLL) from LUL atelectasis

Question 9

Gorham Stout

Answer 9

Congenital lymphatic abnormlalities with cortical bone loss and resorption from lymphatic infiltration, chylothorax/chylopericardium/chylous ascites

Question 10

Hermansky Pudlak syndrome

Answer 10

AR, oculocutaneous albinism, recurrent hemorrhage due to plt storage-pool defect, ceroid lipofuscin accumulation in pulmonary interstitium and kidneys

Question 11

Kleine-Levin syndrome

Answer 11

recurrent, episodic hypersomnia and cognitive or mood changes hyperphagia, hypersexulatity, derealization, hallucinations