systemic disease case

lupus definition

chronic autoimmune disease where immune system attacks the body’s own tissues, causing inflammation across multiple systems

lupus pathophys

genetic predisposition combined with environmental factors (UV, infection, toxins) causes cell death; body cannot adequately clear dead tissue cells and they leak

lupus progression

genetic susceptibility + exposure to virus, toxin, bacteria (3 main MOAs): Autoantibodies, vascular changes, inflammatory mediators → Body cannot get rid of the damaged cells triggered by environmental factors; their contents (DNA, RNA) leak into the bloodstream → Immune system misidentifies these contents as foreign and produces auto-antibodies to fight them (can be any type of cell in bloodstream or organ system) → These autoantibodies stick to your own cell parts and form immune complexes (antibody + antigen clusters) → These complexes circulate in the blood and get stuck in tissues, including vessel

walls & joints → The immune system sees the stuck immune complexes and thinks the area is under attack → These complexes trigger the complement system, causing inflammation and damage in those tissues → Cycle continues and leads to chronic inflammation, scarring, and loss of organ function

lupus etiology

age 15-45, 90% of cases are women, genetic predisposition (HLA-DRB1,

HLA-DR2, HLA-DR3, more), environmental factors (smoking, UV, infections, meds),

Hispanic/African/Asian descent

lupus symptoms

systemic involvement, characterized by flare ups/downs:

Integumentary: BUTTERFLY or discoid RASH, sensitivity to UV

MSK: SYMMETRICAL arthritis/-algia of small joints (hands, wrist, knees) that

is non-destructive; tenosynovitis

Nervous: aseptic meningitis, seizure, headache, neuropathy, delirium, psychosis

CV: RAYNAUD’s, endocarditis, pericarditis, myocarditis, tachycardia

GI: ulcers, dysmotility, ascites

Pulmonary: pleuritis/effusion, lung disease

Renal: proteinuria, hematuria, nephritis, LE edema

lupus diagnosis

ACR Criteria

+ANA titer (>1:80) AND

Biopsy proven nephritis AND

Proof of systemic involvement – one of the following:

cutaneous lupus, oral ulcers, alopecia, synovitis, renal involvement (labs),

neurological Sx, anemia, leucopenia, thrombocytopenia

lupus treatment

DMARDs (hydroxychloroquine), glucocorticoids, immunosuppressants, methotrexate

lupus PT role

skin maintenance, exercise within tolerance to avoid flare-ups, breathing techniques

lyme disease definition

bacteria in ticks causes widespread inflammatory immune response

lyme disease pathophys

tick-borne bacteria deposit into skin after bite (b burgdorferi) → body tries to clear infection, but the bacteria is extremely slippery! → inflammatory response can cause tissue damage in multiple systems → no infection is found but persistent joint & systemic inflammation is present

lyme disease symptoms

BULLSEYE RASH, fever, fatigue, headache, muscle pain, joint pain (larger

joints…knees, shoulders, hips)

If untreated…neuro Sx, cardiac complications, arthritis, ophthalmic conditions,

lymphocyte meningitis, chronic arthritis, encephalopathy, cognitive/psychiatric

changes

lyme disease diagnosis

Bullseye rash, LABS: b burgdorferi antibodies A Western blot A (+) = Lyme

lyme disease treatment

Acute: antibiotics

Untreated: Sx management based on involvement of each system

lyme disease pt role

MT and modalities for pain alleviation; PT based on needs

Fibromyalgia definition

chronic pain condition characterized by multiple painful areas

fibromyalgia pathophys

autonomic dysregulation (increased sympathetic tone), CNS structural changes, central sensitization, and a lack of sleep combine to create the condition known as fibromyalgia, characterized by multiple ‘painful’ aching points across all 4 quadrants of the body

fibromyalgia etiology

environmental triggers such as trauma, rapid medication withdrawal, or excessive depression/anxiety can kick fibromyalgia; GENETIC COMPONENT; WHITE FEMALES 30-60

fibromyalgia symptoms

ache/burn/dull pain across entire body, chronic fatigue, lack of sleep, hypersensitivity, increased sympathetic tone

fibromyalgia diagnosis

ACR criteria

fibromyalgia treatment

antidepressants (tricyclics), SNRIs, pregalalin/gabapentin

fibromyalgia PT role

body awareness training, low-intensity aerobic exercise/RT; use of modalities if exercise if not tolerated; aquatic therapy; CBT

Raynaud’s definition

intermittent episodes of arteriole constriction in the digits that causes skin pallor and coldness - occur in response to cold temp or strong emotion

primary raynaud’s

idiopathic (80-90% of cases)

secondary raynaud’s

phenomenon; occurs as a result of other pathology (SLE, RA, scleroderma, MCTD)

raynaud’s etiology

primary: women 20-50, family hx, smoking, manual occupation

secondary: 20x more likely in women 15-40 (think abut other autoimmune disease with this etiology)

raynuad’s pathophys

Genetic: NOS1 gene, parental and twin studies have shown relationship

vascular: increase in digital vascular tone; can be caused by PAD, autonomic disorder, or peripheral neuropathy

neural: autonomic failure to thermoregulate the digits

raynaud’s symptoms

loss of blood flow to finger/toes can cause skin of digits to go pale of blue and become cold; usually starts with one digits then spreads to others while sparing thumb; if thumb affected = secondary Raynaud’s; pain/numbness/tingling may be present; in severe cases ulceration and gangrene can occur; thickened fingertip skin and brittle nails

UNILATERAL: may indicate neoplasm or other proximal occlusion

pts experience 4x more migraines

raynaud’s diagnosis

nailfold capillary microscopy

raynaud’s treatment

Vasodilators – calcium channel blockers (amlodipine, nifedipine)

Phosphodiesterase (PDE) inhibitors – added to vasodilator treatment if unaffected

Topical nitroglycerin: causes local vasodilation

AVOIDANCE OF TRIGGERING FACTORS (temp, nic, emotional stress, etc)

Raynaud’s PT role

promote blood flow to distal extremities, increase overall cardiac output, keep warm

polymyalgia rheumatica definition

rheumatic disorder characterized by stiffness and pain around muscles of shoulders, neck, hips (JOINTS)

polymyalgia rheumatica pathophys

immune-mediated; combination of genetics, infection, or autoimmune malfunction cause IL-6 to stimulate release of inflammatory cells (T, B, macrophages) that cause inflammation in joints; no lab values

polymyalgia rheumatica etiology

WHITE FEMALES >60; HLA-DR4

polymyalgia rheumatica symptoms

Acute onset of morning stiffness >45 min that spontaneously resolves later in the day; the stiffness will return after rest/prolonged inactivity; flu-like symptoms/pain

Painful AROM, PROM normal

PMR COULD BE FIRST SYMPTOM OF GIANT CELL ARTERITIS

giant cell arteritis

an inflammatory condition of the arteries of head/neck, which can cause blindness, swelling, & obstruction of the ciliary & ophthalmic arteries

polymyalgia rheumatica diagnosis

LABS: elevated C-RP, ESR, ANA, platelets/thrombocytosis, (-) RF, (-) CP

Imaging: may reveal bursitis, myositis, tenosynovitis, arthritis, etc.

polymyalgia rheumatica treatment

DMARDs (methotrexate); corticosteroids (prednisolone; great outcomes, relapse quickly if they ween of meds too quick…must taper off); bisphosphonates; vitamin D & calcium supplementation

polymyalgia rheumatica PT role

continue maintaining an active lifestyle and function

reiter’s syndrome / reactive arthritis definition

exposure to infection causes inflammatory response in joints

reiter’s syndrome / reactive arthritis pathophys

infectious exposure to bacteria (chlamydia, salmonella, shigella) causes an inflammatory response that attacks the synovium & causes joint damage

reiter’s syndrome / reactive arthritis etiology

males 20-40; HLA-B27; AIDS

reiter’s syndrome / reactive arthritis symptoms

onset 4 weeks after infection; classic Sx triad is CAN’T SEE (conjunctivitis), CANT PEE (urethritis) CANT CLIMB TREE (arthritis of knee  hips  spine); enthesitis

Sexually acquired: urethritis, discharge, genital pain, painful pizzing

30% of those with reactive arthritis will develop achilles tendinopathy & plantar fasciopathy

Dactylitis

50% have L-spine pain

Dactylitis

severe diffuse swelling of an entire finger or toe (sausage fingers)

reiter’s syndrome / reactive arthritis diagnosis

2 or more of the following + MSK involvement (arthritis)

sausage fingers, asymmetric oligoarthritis, conjunctivitis, diarrhea or cervicitis

urethritis or genital ulcers

LABS: HLA-B27; ESR, WBC

reiter’s syndrome / reactive arthritis treatment

NSAIDs or local glucocorticoids, DMARDs, TNF inhibitors

reiter’s syndrome / reactive arthritis PT role

symptoms resolve on their own after 3-5 months avoid overstressing the joint and maintain inflammation

psoriatic arthritis definiton

chronic autoimmune disease that causes inflammation of joints and entheses

psoriatic arthritis pathophys

Environmental triggers (stress, trauma, infections); Inflammation inside of joint/synovium (synovitis) and at entheses; Joint surface degeneration

psoriatic arthritis etiology

obesity, psoriasis (20-30% will develop PsA); GENETIC/FAMILY INVOLVEMENT

psoriatic arthritis symptoms

psoriasis (red, inflamed patches of dry skin), joint stiffness/pain (PIPs/DIPs), pain at entheses, nail pitting, separation of nail from bed; Sacroiliitis

psoriatic arthritis diagnosis

MUST HAVE PSORIASIS + ARTHRITIS; no tests to rule it in – just rule out

LABS: ESR, C-RP, (-) RF

psoriatic arthritis treatment

NSAIDs, corticosteroid injections, DMARDs (methotrexate)

psoriatic arthritis PT role

modalities for pain modulation (cold therapy, gentle mobs, MT); gentle ROM w/in pain range, stretch wrist flexors/extensors as necessary; gradual strengthening within pain tolerance

gout definition

arthritis caused by monosodium urate crystal deposition into joint space

psuedogout

arthritis caused by monosodium urate crystal deposition into joint space

gout pathophys

Hyperuricemia occurs; can be…

Primary: high purine diet leads to overproduction of uric acid

Secondary: reduced renal excretion, enzyme deficiencies

Idiopathic: causes don’t fit primary or secondary classification

Monosodium urate crystals form once uric acid production increases past its

solubility limit & enter joint space

Inflammation ensues due to damage caused by crystals

gout etiology

Men age 30-60; high purine diet; family Hx

gout symptoms

hot, red, painful flare-ups that last 7-10 days; most common in big toe, knee, and midfoot but can also be in any joint

gout diagnosis

synovial fluid sample positive for presence of urate crystals; elevated serum uric acid

gout treatment

Acute: NSAIDs

Chronic:

xanthine oxidase inhibitors (allopurinol; prevents uric acid formation)

uricosuric agents (probenecid; promotes uric acid excretion)

recombinant uricase (pegloticase; breaks down uric acid)

gout PT role

Prioritize pain management during flare ups; Encourage gradual return to activity until gout resolution; Address sedentary behavior (linked to higher uric acid levels)

systemic sclerosis / scleroderma definition

autoimmune disease that causes fibrosis of skin, CT, joints, vessels, organs

localized systemic sclerosis / scleroderma

patches of thickened skin w dermal fibrosis, lacks systemic

involvement – NO INCREASED MORTALITY

Limited: morphea aka oval shaped patches; trunk-involvement

Generalized: morphea in 3 or more places; trunk & thigh

Linear: bandlike lesion that may affect underlying muscles & bones; occurs on arms, legs, and scalp (coupe de sabre  alopecia)

Deep: deep CT involvement

Mixed: more than 1 of the previous subtypes

systemic systemic sclerosis / scleroderma

involves internal organs; vascular & systemic complications, skin thickening is still present; antinuclear antibodies (90%) & specific antibodies (70%) present, associated w INCREASED MORTALITY caused by loss of lung, heart, kidney function

limited systemic scleroderma

calcinosis, Raynaud’s, esophageal dysmotility, sclerodactyly (thickened finger skin), telangiectasia (dilated vessels on surface of skin); organ involvement after 10-15 years; Skin thickening only in extremeties distal to knees & elbows

diffuse systemic scleroderma

more widespread organ involvement (heart, lungs, GI, kidneys) that has quicker onset (<5 years); faster, more diffuse, developing skin sclerosis; Skin thickening in entire body

localized scleroderma pathophys

autoimmune dysregulation, vascular dysfunction, and increased inflammatory signaling lead to fibrosis caused by excess collagen production

systemic scleroderma pathophys

3 main hallmarks – vascular insult, autoimmunity, fibrosis

trigger (virus, infection, medication, allergy) causes vascular injury

immune response that leads to increased, excessive collagen production in skin & vascular tissue  ischemia & necrosis

continued, persisting, irreversible fibrosis

scleroderma etiology

more common in females, peak age of onset 45-54

scleroderma symptoms

raynaud’s is usually the earliest sign, nonpitting edema in fingers/hands, tight shiny thickened skin  disuse & atrophy; MONITOR FOR SYSTEMIC INVOLVEMENT; Progression: distal → proximal stocking glove pattern

localized scleroderma diagnosis

skin biopsy showing dermal fibrosis & inflammatory markers; possibility for (+) ANA titer of 1:160

systemic scleroderma diagnosis

ACR score >9; finger skin involvement/thickening; lung & vascular involvement via labs/imaging; presence of antibodies (ANA, anti-centromere, anti–RNA polymerase III)

scleroderma treatment

no cure exists; immunosuppressants used to manage systemic Sx; corticosteroids used cautiously; superficial morphea managed with topical corticosteroids; widespread morphea can be managed with UV treatment

Immunosuppressants: methotrexate, hydroxychloroquine

Corticosteroids &amp; NSAIDs to manage inflammation

ACE inhibitors to manage compromised kidney function

scleroderma PT role

wound prevention/care education; maintain ROM &amp; prevent functional limitations; exercise barriers include joint stiffness, contractures, SOB, fatigue, pain; Low impact activities, gentle stretching

marfan’s syndrome definition

inherited genetic disorder affecting connective tissue; SYSTEMIC EFFECTS; decreased life expectancy due to aortic & valvular complications

marfan’s syndrome pathophys

FNB-1 mutation leads to activation of transforming growth factor (TGF) that causes inflammation, fibrosis, ECM degeneration, weakening of vascular walls; people become more prone to dislocations & visceral complications

marfan’s syndrome etiology

FBN1 gene mutation (elastic fibers); doesn’t discriminate race or sex; manifests more

marfan’s syndrome symptoms

long limbs &amp; fingers; sternal caving/protrusion; valvular prolapses; aortic dissection/aneurysm; scoliotic changes; pes planus; thumb sign; wrist sign; visual problems; facial weirdness; pneumothorax; dural ectasia (widening of dural sac)

marfan’s syndrome diagnosis

GENETIC TESTING: FNB-1 mutation; MFS Score: 7 or higher, Combination of aforementioned Sx; Wingspan to height ratio is greater than normal (1:1); Physical Exam – note physical symptoms of Marfan’s; Imaging – chest x-ray (pneumothorax) & MRI (dural ectasia); ECG & ECHO: check for cardiac function or presence of deformity

marfan’s syndrome treatment

slow progression of aortic dilation by managing cardiac output & BP; B-blockers

Angiotensin II antagonists – reduce aortic dilation by inhibiting TGF activity,

which is high in those with Marfan’s; imaging every 6 months to monitor aortic root dilation

marfan’s syndrome PT role

avoid strenuous activities that increase aortic wall stress (BP management) and put individual at risk for physical contact; low intensity exercise to promote CV health without excessive strain; gentle ROM & RT exercises (yoga, tai chi, swimming)

ehlers danlos definition

genetic condition that affects CT by alters collagen production; INHERITABLE

ehlers danlos pathophys

genetic defects (MULTIPLE GENES) affect collagen production & structure; can lead to organ deformities as well (valvular issues, GI issues,

ehlers danlos etiology

more prevalent in females

ehlers danlos symptoms

hypermobility & frequent subluxations/dislocations, hyperextensible skin that is easily bruised, poor wound healing, chronic pain & fatigue, vascular fragility, dysautonomia

Associated conditions: hernias, GI dysmotility, aneurysm & valvular involvement, neurodiversity, spinal curvature changes,

ehlers danlos diagnosis

genetic testing, family Hx, Beighton Score for hypermobility (5/9 points); EXCLUSION OF ALL OTHER DZS (Marfan’s, osteogenesis imperfecta, more)

ehlers danlos treatment

lifestyle modifications (pacing, exercise)

ehlers danlos PT role

low impact exercise to increase muscle tone and strength

ankylosing spondylitis definition

inflammatory autoimmune disease that causes arthritis of the spine leading to ligamentous & intraarticular inflammation – can even cause fusion

ankylosing spondylitis pathophys

poorly understood; chronic inflammation at sites where ligaments attach to vertebrae & cartilage sites; OSSIFICATION & MORE INFLAMMATION

ankylosing spondylitis etiology

HLA-B27, age 17-45, WHITES, MEN, concurrent autoimmune disorders

ankylosing spondylitis symptoms

low back pain & stiffness, loss of rib mobility, loss of ROM, fatigue, 33% develop asymmetrical large joint involvement; other systemic autoimmune symptoms

ankylosing spondylitis diagnosis

X-ray & MRI, no lab test but HLA-B27 + C-RP & ESR may indicate

ankylosing spondylitis treatment

TNF inhibitors, NSAIDs, local steroid injections, DMARDs not as effective on axial skeleton as they are on peripheral joints

ankylosing spondylitis PT role

alleviate pain/stiffness, preserve mobility, alleviate pain, core strengthening, aquatic therapy, respiratory training (loss of rib mobility),

paget’s definition

metabolic bone disease that causes unusual bone growth most commonly in the pelvis, skull & spine (can also occur in limbs); excessive osteoclastic activity leads to compensatory osteoblastic activity that lays down new bone

paget’s etiology

unknown, possible genetic predisposition w viruses

paget’s lytic destructive phase pathophys

osteoclast proliferation; bone resorption occurs so quickly that osteoblasts can’t keep up & lost bone is replaced with fibrous tissue

paget’s mixed phase pathophys

trabecular bone is laid so fast that it is not well organized; while calcium content is high, the bone is more brittle due to the chaotic woven pattern

paget’s sclerotic/blastic phase pathophys

osteoblast proliferation & abnormal compensatory regeneration occurs