Genetics Flashcards
1
Q
What are features of hereditary telangiectasia (Osler-Weber-Rendu syndrome)?
A
AR. Diffuse telangiectasias, recurrent epistaxis, and widespread AV malformations. Note the AVMs can be in the lungs which causes right to left shunting of blood and chronic hypoxia.
2
Q
What conditions are associated with hereditary hemochromatosis?
A
Hepatic fibrosis and cirrhosis, skin pigmentation (sun-exposed areas, scars, genitalia), DM (“bronze diabetes”), arthropathy, and hypogonadism (diminished libido, ED).
