connective tissue disorders Flashcards
what is connective tissue?
tissue that connects, supports binds or separates other tissues or organs
what are examples of connective tissues?
-nervous tissue
-muscle tissue
-epithelial tissue
what are 3 types of connective tissue disease?
-systemic sclerosis/ scleroderma
-systemic lupus erythematosus
-dermatomyositis and polymyositis
describe the epidemiology of scleroderma
- 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)
describe the aetiology of scleroderma
- 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
what are the 2 subtypes of systemic scleroderma
-diffuse scleroderma
-limited cutaneous scleroderma
describe diffuse scleroderma
-skin thickening proximal to elbows and knees
-early internal organ involvement
describe limited cutaneous scleroderma
-skin thickening limited to below the elbow
-later involvement of internal organs
describe clinical features of scleroderma
-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
what is localised scleroderma
-localised skin changes
-internal organs not affected
what are the clinical features of the skin of a patient with scleroderma
-dry shiny hairless coarse skin
-mouth smaller and tight & nose pointed
-loss of wrinkles of facial expression
-hand deformity
what are the MSK clinical features of scleroderma?
-joint pain
-stiffness
-limited ROM
-fibrosis skin and muscle
-weakness
-synovitis
what are vascular clinical features of scleroderma
-capillary changes
-raynauds syndrome
-numbness and pain in hand and feet
what are the most common organs affected in scleroderma?
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
how is scleroderma diagnosed?
-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
how is scleroderma managed pharmacologically?
-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
in terms of a physiotherapy assessment, what are important things to look out for with scleroderma?
-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
what are examples of treatment considerations for scleroderma?
-exercise - eg ROM, stretching programme, diaphragmatic breathing exercise, strengthening
-splinting and skin care
-self management programme eg self advocacy, fatigue and energy conservation
what is a systemic lupus erythematosus (SLE)? SELENA GOMEZ
-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
describe the epidemiology of SLE
-higher in females
-age of onset - typically 20-30 years
-milder course in elderly
-cause is unknown
-prevalence is higher than scleroderma
describe the pathology of SLE
-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
what are examples of the ACR diagnostic criteria for SLE?
-cheek rash
-discoid rash (disk/coin shape rash)
-photosensitivity (to light)
-oral ulcers
-arthritis
-renal disorders
what are examples of skin clinical features of SLE?
-butterfly rash
-discoid lesions
-photosensitivity
-alopecia (hair loss)
describe systemic clinical features of SLE
-lethargy
-fatigue
-reduced exercise tolerance
describe MSK clinical features of SLE
-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
what organs can be affected by SLE?
-pulmonary
-cardiovascular
-renal - may need dialysis or transplant
what is the prognosis of SLE?
-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
what medications are used to manage SLE?
-NSAIDS
-corticosteroid creams for rashes
-low dose corticosteroids
-anti- malarials
-antibiotics for associated infections
-warfarin for thrombosis
what are examples of physiotherapy interventions that can be used for SLE?
-exercise programme
-moderate to high intensity can increase aerobic capacity
-HR and BP should be monitored
-hydrotherapy
-strengthening
what things can be involved in self management for SLE?
-education
-energy conservation
-aerobic conditioning
-healthy diet
-exercise/rest
-stress management
what is dermatomyositis?
-characterised by both muscle inflammation and distinctive skin rashes
-cause is unknown
-female more likely
-associated with some cancers eg colon, breast or ovarian
what is polymyositis?
-only causes inflammatory myopathy
-characterised by symmetrical proximal muscle weakness
-cause is unknown
-no skin rash
-systemic symptoms eg fatigue, anorexia, morning stiffness
describe the pathology of dermatomyositis and polymyositis
-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
what are the muscle clinical features for dermamyositis and polymyositis?
-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
what are examples of skin clinical features of dermamyositis?
-dermatomyositis only NB
-classical rash
-peri-orbital oedema
-calcinosis
-raynauds syndrome
how can dermomyositis or polymyositis affect joints?
-pain
-reduced ROM
-deformity
-non erosive arthritis
-risk of subluxation
how can dermomyositis and polymyositis affect lungs and cardiac?
-alveolitis
-pulmonary fibrosis
-aspiration pneumonia
-pericarditis
how is dermomyositis or polymyositis diagnosed?
-clinical signs - symmetrical weakness or rash
-blood tests - elevated muscle enzymes CPK, elevated ESR, auto-antibodies
-muscle biopsy- evidence of muscle necrosis
what drugs are used to manage dermomyositis or polymyositis?
-steroids - standard first line
-immunosuppressive meds eg MTX
how can exercise help with polymyositis?
-improved mitochondrial function
-improve angiogenesis
-improves muscle growth
-reduces inflammation
what is the prognosis of dermomyositis or polymyositis?
-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
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?
-systemic scleroderma
