All Conditions Flashcards
Marfans Def
Genetic conditions affecting the connective tissues which can damaged blood vessels, heart, skin, eyes, lungs and bones. Rare 1 in 5000
Marfans causes
Defect in chromosome 15, FBN1 gene which enables to the body to produce the proteins which helps give connective tissues it’s elasticity and stretch
Marfans diagnosis
Physical exam
Family history
Eye test
Echocardiogram - looks at sound waves for issues with aorta and heart valves
Genetic testing
CT & MRI
Marfans treatment
Depends on area
Aortic aneurysms treated to lower BP to prevent rupturing of aorta
Vision = glasses / contacts
Margans CP
Tall / thin
Long arms, legs, fingers and toes
Flat feet
High arched palate and crowned teeth
Heart murmurs
Nearsightedness
Curved spine
Stretch marks
Marfans complications
Eyes = eye retinal detachment = blurred vision / blindness
Curve in spine = scoliosis
Weakened aorta = aortic aneurysm
Weakened heart valve tissues = heart failure
Rib development = protruded / sicken chest
Marfans risk factor
Family history
Elhers danlos syndrome EDS
Def
Inherited disorder affecting connective tissues in skin and joints - stretchy / fragile skin. 11 different types eg hyper mobile & vascular
systemic lupus erythematosus SLE
Treatment
NSAIDS
Corticosteroids
Avoid sun
Immunosuppressants
Elhers danlos syndrome EDS
Cause
Variants and mutations in at least 20 genes which disrupt the production of collagen which weakens connective tissues
Elhers danlos syndrome EDS
Diagnosis
Family history
Currently loose joints and stretchy skin
Genetic testing to rule out other conditions
Elhers danlos syndrome EDS
Treatment
Pain = ibuprofen
BP = Blood vessels can be fragile so BP meds to reduced BP to lessen the stress on BV, eg ace-inhibitors ramipril
Elhers danlos syndromes EDS
Clinical presentation
Increased ROM
Joint and muscle pain
Dislocation
Clumsiness
Stretched, soft, velvet and fragile skin
systemic lupus erythematosus SLE
Def
autoimmune - immune system attacking itself, causing inflammation on joints, skins, kidneys, blood cells, brain, heart and lungs
systemic lupus erythematosus SLE
Def
autoimmune - immune system attacking itself, causing inflammation on joints, skins, kidneys, blood cells, brain, heart and lungs
systemic lupus erythematosus SLE
S&S
can be sudden/slow, mild/severe, temp/permanent
-fatigue
- fever
- joint pain/stiffness/swelling
- butterfly shaped rash on face
- white/blue fingers/toes when cold/stressed
- chest pain
- dry eyes
- headaches
- confusion
systemic lupus erythematosus SLE
Cause
unknown - can be environmental / genetics
Triggers:
Sun exposure = cells die releasing nucleus antigens that the body attacks
Infections
Meds - BP, antibiotics
systemic lupus erythematosus SLE
RF
women, 15-45, African/asian americans,
systemic lupus erythematosus SLE
Complications
Kidney damage/failure, Brain/CNS = visional issues, stroke, seizures. BV = decreased RBC causing anemia. Lungs = painful inflammation of chest cavity lining.
systemic lupus erythematosus SLE
Diagnosis
urine test = increase in protein and RBC would show kidney damage
blood count = decrease WBC and platelets
Imaging
Rash
DVT
Def
formation of a blood clot in deep veins (mostly legs)
DVT
S&S
swelling, pain, tenderness, cramping/throbbing in one leg, warm/red skin, visible/swollen veins