Connective tissue and auto-immune diseases Flashcards
Sarcoidosis
A multi-system autoimmune disease disease that can affect multiple organs in the body, but most commonly involves the lungs, skin and lymph nodes.
Characterised by the formation of small collections of inflammatory cells called granulomas.
Sarcoidosis Epidemiology
Can affect anyone
More common in black people
More common in females
20-40
Cant inherit, although higher risk if first-degree relative has it
Sarcoidosis Patho
A yet unidentified antigen, causes immune system to overreact and make lumps or nodules called granulomas.
Granuloma= area of inflammation caused by immune system. Made up of cluster of WBC that have been walled off from rest of the body, (surrounded by fibrous tissue which makes them feel hard and lumpy) to try and protect it from something which immune system labels as harmful
Combo of genetics and enviro
Immune system over reacting to antigens (e.g., bacteria, virus)
Considered autoimmune
Sarcoidosis S&S
Depend on where- most common in lungs, eyes, skin, Jts
Lungs- cough, shortness of breath, chest P
Eyes- blurred vision, P, photosensitive
Skin- growths underneath tattoos or scars, light or dark patches
Heart- chest P, palpitations, irregular heartbeat
Nervous system- seizures, weak or paralysed facial muscles (7th cranial nerve palsy)
Fever
Fatigue
Jt P
Muscle aches/weakness
Swollen lymph nodes
more chronically can involve pulmonary fibrosis
Sarcoidosis Investigations
Imaging
Biopsies
ECG
Pulmonary function test for lungs
Sarcoidosis Management
Acute sarcoidosis tends to behave favourably with spontaneous resolution within 1– 2y of diagnosis.
Chronic sarcoidosis is associated with a higher risk of complications such as progressive lung fibrosis, leading to respiratory failure and right ventricular failure
Corticosteroids, immunosuppressants, NSAIDs
Elher’s Danlos Syndrome (EDS)
A collection of genetic diseases caused by defects in the structure of collagen.
Characterised by various MSK, skin + ST manifestations.
Most common is hyper-mobility, then classic and vascular.
EDS Epidemiology
Variety of genetics
50% chance of passing onto children
EDS Patho
Involves a inherited defect in collagen and connective-tissue synthesis and structure.
Collagen adds flexibility and strength
Primarily affects skin, Jts, blood vessel walls.
The walls of the aorta and gut are weak and may rupture with catastrophic results.
EDS S&S
Joint hyper-mobility
Recurrent subluxations/dislocations
Premature arthritis
Skin hyper-extensibility - connective tissue is loose and stretchy skin
Fragile skin- damage often wont heal/Excessive bruising
Unstable Jts
Chronic Px
Vascular symptoms:
Thin nose
Thin upper lip
Small ear lopes
Prominent eyes
EDS Investigations
Genetic testing
Hyper - Beightons score, family Hx, MSK complications, 5 or more manifestations of a connective tissue disorder.
Biopsy
Physical exam- see how far skin can stretch, how far Jts can move
EDS Management
All subtypes are chronic.
To protect skin- sun cream, mild soaps
Vitamin C will help bruising
Physical therapy to strengthen muscles supporting Jts
May need medication to keep blood pressure low and stable
Marfan’s disease
Inherited disorder that affects connective tissue.
Can effect: Skin, skeleton, heart, blood vessels, lungs and eyes.
Marfan’s disease Epidemiology
Greatest risk is having parent with disorder
Marfan’s disease Patho
Caused by mutations in FBN1 causing Fibrillin1 to be either dysfunctional or less abundant leading to fewer functional microfibrils.
Fibrillin1 - micro-protein thats the main component to microfibrils.
microfibrils - Strong, rope like structures that provide tissue integrity and form connective tissue. Fewer functional microfibrils - lowers tissue elasticity and integrity.
TGF-B also not sequestered meaning more tissue growth in certain areas.
Marfan’s disease S&S
Variable, even among members of same family
Tall and slender build
Disproportionally long arms, legs
Long + thin fingers and toes
Inability to fully extend elbows
Pectus excavatum and carinatum
Extreme near-sightedness
Scoliosis
Flexible joints.
Flat feet
Skin, lungs, eyes and CVS effects
Skin - stretch marks
Lungs - can lead to pneumothorax
Eyes - Retinal detachment
CVS - Aorta dilates overtime - RF for aortic valve insufficiency.
Degeneration of aortic wall - more susceptible to aneurysms
RF for mitral valve prolapse.
Marfan’s disease Investigations
Based on clinical features present and mutation of FBN1 gene.
Marfan’s disease Management
Complications- CV (aortic aneurysm, aortic dissection and valve malformations), eye (lens dislocation, retinal problem), skeletal (inc risk of scoliosis, sunken or protruding chest sternum, foot and low back P)
During pregnancy extra stress on aorta can increase risk of rupture/dissection
Systemic Lupuserythamatosus (SLE)
Immune system attacks own tissue and organs
SLE Epidemiology
Women of child bearing age
Unknown
Autoimmune
Enviro, hormonal and genetic factors
SLE Patho
Erythematosus refers to typical red malar rash that occurs over face
Characterised by anti-nuclear antibodies
These are antibodies to proteins within the persons own cell nucleus
Causes immune system to target these proteins
When immune system is activated by these antibodies targeting proteins in nucleus it generates inflammatory response
Inflammation in the body leads symptoms, creates numerous problems when it occurs chronically
SLE S&S
Can develop suddenly or slowly, very variable
Most people have episodes/flares
Fatigue
Fever
Jt P, swelling, stiffness
Butterfly shaped rash on face that covers cheeks and bridge of nose
Skin lesions that appear worse with sun exposure
Shortness of breath
Chest P
Dry eyes
SLE Investigations
Autoantibodies- associated with anti-nuclear antibodies, 85% of cases will test +ve to this
SLICC criteria or ACR criteria, involves confirming presence of antinuclear antibodies and establishing certain number of clinical features
SLE Management
1st line- NSAIDs
Corticosteroids (prednisone) helps reduce swelling, tenderness and P
