Inherited Diseases Flashcards
What is the inheritance of mucopolysaccharidoses (lysosomal storage disorders)?
Autosomal recessive mostly
What is the inheritance of Anderson-Fabry disease?
= deficiency in alpha-galaactosidase A enzyme leading to abnormal storage of glycoshingolipids in tissues
X linked
How is the ‘thumb sign’ an indicator of Marfan’s syndrome?
When the thumb is enclosed within a closed fist, it points out the end
What is the inheritance of Marfan’s syndrome?
Autosomal dominant disorder of connective tissue
Name 2 features of Marfan’s and 2 complications:
- Tall and thin
- Unusual chest shape
- Lens subluxation
- Aortic dissection
What is the ‘wrist sign’ used to identify Marfan’s patients?
Wrap fingers around wrist so they are encircling, positive if thumb overlaps the nail of the little finger.
What cardiac complications do Marfan’s patients get?
Aortic dissection
Aortic dilatation
Aortic valve incompetence
Mitral valve prolapse
Tall patient keeps getting pneumothoraces, what should this raise suspicion of?
Marfan’s syndrome (91% have fibrillin 1 mutation)
Which criteria are used to diagnose Marfans?
Ghent criteria
Rx of cardiovascular features in Marfans syndrome?
Beta blockers if aortic dissection
Surgery if diameter of aortic root at sinus of valsalva exceeds 5cm
4 features of Ehlers-Danlos syndrome?
- Skin laxity
- Tendency for easy bruising
- Delayed healing
- Joint hypermobility
What type of protein is affected in Ehlers Danlos?
Collagen proteins- 10 types of EDS
What is the pathophysiology of lysosomal storage disorders?
Deficiency in lysosomal enzymes that degrade glycosaminoglycans (polysaccharides), affecting connective tissue in heart, skin, muscle, bone, vasculature and brain.
