connective tissue disorders

Question 1

what is connective tissue?

Answer 1

tissue that connects, supports binds or separates other tissues or organs

Question 2

what are examples of connective tissues?

Answer 2

-nervous tissue
-muscle tissue
-epithelial tissue

Question 3

what are 3 types of connective tissue disease?

Answer 3

-systemic sclerosis/ scleroderma
-systemic lupus erythematosus
-dermatomyositis and polymyositis

Question 4

describe the epidemiology of scleroderma

Answer 4

• hard thickened areas of skin, can also cause problems with internal organs etc
  -autoimmune condition
  -uncommon connective tissue disorder
  -more common in females
  -age 30-50
  -HLA (human leukocyte antigens- DR5 marker)

Question 5

describe the aetiology of scleroderma

Answer 5

• cause is not known
  -there can be an event that causes cells to start producing collagen as if injury has occured
  -excess collagen formation
  -can affect skin, joints and internal organs

Question 6

what are the 2 subtypes of systemic scleroderma

Answer 6

-diffuse scleroderma
-limited cutaneous scleroderma

Question 7

describe diffuse scleroderma

Answer 7

-skin thickening proximal to elbows and knees
-early internal organ involvement

Question 8

describe limited cutaneous scleroderma

Answer 8

-skin thickening limited to below the elbow
-later involvement of internal organs

Question 9

describe clinical features of scleroderma

Answer 9

-initial changes in hands, face and feet
-hand swelling initially
-sclerodactyly (ulceration of skin of distal digits)
-raynauds (common early symptom)
-fibrosis - thickening of skin, subcutaneous swelling and contractures

Question 10

what is localised scleroderma

Answer 10

-localised skin changes
-internal organs not affected

Question 11

what are the clinical features of the skin of a patient with scleroderma

Answer 11

-dry shiny hairless coarse skin
-mouth smaller and tight & nose pointed
-loss of wrinkles of facial expression
-hand deformity

Question 12

what are the MSK clinical features of scleroderma?

Answer 12

-joint pain
-stiffness
-limited ROM
-fibrosis skin and muscle
-weakness
-synovitis

Question 13

what are vascular clinical features of scleroderma

Answer 13

-capillary changes
-raynauds syndrome
-numbness and pain in hand and feet

Question 14

what are the most common organs affected in scleroderma?

Answer 14

lungs - dry cough, SOB, fibrosis in later stages
-GI - bloating,nausea, vomiting etc
-cardiac - often later in disease
-renal- eg renal failure due to hypertension

Question 15

how is scleroderma diagnosed?

Answer 15

-no definite blood tests - check for absence of Rh F, ACA, elevated C reactive protein
-pulmonary function tests
-chest x ray
-echocardiograms
-renal function- for organs

Question 16

how is scleroderma managed pharmacologically?

Answer 16

-corticosteroids
-immune suppressing medications such as MTX
-NSAIDS
-UV therapy for skin
-medications for BP management
-medications for raynauds eg Ca2+ channel blockers eg diltiazem

Question 17

in terms of a physiotherapy assessment, what are important things to look out for with scleroderma?

Answer 17

-observation - skin changes, deformity, postural changes
-ROM- reduced ROM, contracture
-muscle strength- weakness
-lung function - reduced exercise tolerance etc
-general/ functional mobility - reduced function and ADLs

Question 18

what are examples of treatment considerations for scleroderma?

Answer 18

-exercise - eg ROM, stretching programme, diaphragmatic breathing exercise, strengthening
-splinting and skin care
-self management programme eg self advocacy, fatigue and energy conservation

Question 19

what is a systemic lupus erythematosus (SLE)? SELENA GOMEZ

Answer 19

-a chronic auto-immune disease which can affect any organ
-highly inflammatory
-characterised by multiple exacerbations
& remissions
-variability of symptoms and disease severity
-can affect the joints, lungs, skin, brain , blood vessels etc

Question 20

describe the epidemiology of SLE

Answer 20

-higher in females
-age of onset - typically 20-30 years
-milder course in elderly
-cause is unknown
-prevalence is higher than scleroderma

Question 21

describe the pathology of SLE

Answer 21

-autoimmune disorder
-pathogenic autoantibodies are the primary cause of tissue damage
-the production of these antibodies arises by means of complex mechanisms involving immune system

Question 22

what are examples of the ACR diagnostic criteria for SLE?

Answer 22

-cheek rash
-discoid rash (disk/coin shape rash)
-photosensitivity (to light)
-oral ulcers
-arthritis
-renal disorders

Question 23

what are examples of skin clinical features of SLE?

Answer 23

-butterfly rash
-discoid lesions
-photosensitivity
-alopecia (hair loss)

Question 24

describe systemic clinical features of SLE

Answer 24

-lethargy
-fatigue
-reduced exercise tolerance

Question 25

describe MSK clinical features of SLE

Answer 25

-deformity with or without contracture or joint subluxation -tenosynovitis -avascular necrosis -non erosive arthritis (an inflammation of 1 or more joints without deformity) -osteoporosis -muscle weakness and muscle pain

Question 26

what organs can be affected by SLE?

Answer 26

-pulmonary -cardiovascular -renal - may need dialysis or transplant

Question 27

what is the prognosis of SLE?

Answer 27

-1 in 6 chance of dying within 15 years, most often from MI or infection -increased mortality associated with myocardial infarction, stroke, renal or cardiopulmonary failure, nephropathy

Question 28

what medications are used to manage SLE?

Answer 28

-NSAIDS -corticosteroid creams for rashes -low dose corticosteroids -anti- malarials -antibiotics for associated infections -warfarin for thrombosis

Question 29

what are examples of physiotherapy interventions that can be used for SLE?

Answer 29

-exercise programme -moderate to high intensity can increase aerobic capacity -HR and BP should be monitored -hydrotherapy -strengthening

Question 30

what things can be involved in self management for SLE?

Answer 30

-education -energy conservation -aerobic conditioning -healthy diet -exercise/rest -stress management

Question 31

what is dermatomyositis?

Answer 31

-characterised by both muscle inflammation and distinctive skin rashes -cause is unknown -female more likely -associated with some cancers eg colon, breast or ovarian

Question 32

what is polymyositis?

Answer 32

-only causes inflammatory myopathy -characterised by symmetrical proximal muscle weakness -cause is unknown -no skin rash -systemic symptoms eg fatigue, anorexia, morning stiffness

Question 33

describe the pathology of dermatomyositis and polymyositis

Answer 33

-most common age 40-60 -women more likely than men -similar pathology for both - inflammation of muscles, degeneration of atrophy of muscle fibres - HLA -DR3 antibodies

Question 34

what are the muscle clinical features for dermamyositis and polymyositis?

Answer 34

-limb girdle muscles (shoulder and pelvis) -symmetrical weakness -knees, hips, shoulder and elbow may or may not be affected -distal strength maintained -respiratory and bulbar muscle involvement -functional problems eg stairs, STS, brushing hair

Question 35

what are examples of skin clinical features of dermamyositis?

Answer 35

-dermatomyositis only NB -classical rash -peri-orbital oedema -calcinosis -raynauds syndrome

Question 36

how can dermomyositis or polymyositis affect joints?

Answer 36

-pain -reduced ROM -deformity -non erosive arthritis -risk of subluxation

Question 37

how can dermomyositis and polymyositis affect lungs and cardiac?

Answer 37

-alveolitis -pulmonary fibrosis -aspiration pneumonia -pericarditis

Question 38

how is dermomyositis or polymyositis diagnosed?

Answer 38

-clinical signs - symmetrical weakness or rash -blood tests - elevated muscle enzymes CPK, elevated ESR, auto-antibodies -muscle biopsy- evidence of muscle necrosis

Question 39

what drugs are used to manage dermomyositis or polymyositis?

Answer 39

-steroids - standard first line -immunosuppressive meds eg MTX

Question 40

how can exercise help with polymyositis?

Answer 40

-improved mitochondrial function -improve angiogenesis -improves muscle growth -reduces inflammation

Question 41

what is the prognosis of dermomyositis or polymyositis?

Answer 41

-responds well to treatment especially steroids -although residual weakness occurs in approx 30% of patients -osteoporosis is a common complication of long term corticosteroid therapy

Question 42

case study - 40 y.o female presenting with skin tightness over hands and face, cold hands associated with raynauds, joint pain in hands, shoulders and elbows, difficulty straightening fingers, associated SOB, what is the condition?

Answer 42

-systemic scleroderma