rheum2 Flashcards
1
Q
some sclerodermal signs
A
diffuse tight skin
hand contractors
bibasilar or diffuse lung crackles from lung scarring (may be assoc. w. CHF–>pulm. edema, alveoli “popping” back open
or if sounds more like velcro–>dry from fibrosis)
2
Q
sclerodermal CXR
A
chronic basilar interstitial changes (scarring rather than CHF)
3
Q
sclerodermal labs
A
Cr may be elevated
UA w. RBCs+
4
Q
systemic scleroderma may be caused by
A
gabalinium for MRI
5
Q
don’t nec. tx…
A
localized scleroderma
6
Q
diffuse syst. scleroderma
A
is worst, need to tx involves trunk, UE, face, neck "Mouse head" tight mouth hard time eating/swallowing swollen head lungs, heart, kidney, GI, vasc lung* most common cause of mortality, used to be kidney but can now tx
7
Q
scleroderma affects skin and/or
A
alimentary tract (fibrosis) may not have skin pres.
8
Q
diffuse syst. scleroderma GI
A
GERD, stenosis of LES, lose ability to keep contents in stomach, diff. motility
eso. erosion
9
Q
GAVE gastro antral vascular ectasia
A
linear rings across gastric mucosa
10
Q
akinetic GIT leads to
A
bacterial overgrowth
11
Q
pulmonary disease
A
pulm. HTN, scarring
scleroderma is a vasculopathy: slow ischemia to lungs–>reactive fibrosis, obl. capillary beds
drop in DLCO in PFTs
12
Q
cardiac disfunction
A
myo/pericardial fibrosis
13
Q
renal involvement
A
HTN, anemia, hypoperfusion
CKD
RAS activated
14
Q
musculoskeletal involvement
A
tendon friction rub* - “catching” with palpation
joint contractures
myositis - musc. die off
inflammatory synovitis- hot, red, stiff
15
Q
CREST syndrome
A
Calcinosis (“cutis” Ca deposits in skin, ulcer-appearance, tophi)
Raynaud phenomenon (tx w/ Ca channel blocker)
Esophageal dysmotility (GERD, lack of peristalsis, just “drip down”, chronic ulcers–>gangrene)
Sclerodactyly (contractures of hand, skin tightening(puffy, shiny, red), flexure, inflamm–>fibrosis)
Telangiectasia (cheeks)
-break down of melanocytes
16
Q
linear morphea
A
straight line over dermatome, scarring, not nec. need tx, limited rxn
17
Q
Mousecof?
A
puffy face, difficult to open mouth–>need nutr. consult, esp. if diff. swallowing
18
Q
scleroderma lab findings
A
Mild anemia
Proteinuria
ANA nearly always positive, frequently high
anti-SCL-70, Ab against topoisomerase 1 in 1/3 diffuse and 20% CREST
anti-centromere Ab in 50% CREST(1% diffuse), highly specific for CREST
19
Q
scleroderma renal crisis
A
diffuse scleroderma (not CREST)
HTN (>200), proteinuria, AKI,CKI
20% affected
highest mortality originally (now tx w. ACE inhib.)
many go on dialysis (vasculopathy affecting afferent renal arteries–>hypoperf.–>”revving up aldosterone/RAS))
20
Q
scleroderma tx
A
Treatment of symptoms, no cure
Raynaud’s: CaChBlock, AngRecB’s, sildenafil
Esophagus/GI: PPI’s, small meals, abx for bacterial overgrowth and motility
Avoid prednisone, can trigger SRC
(IMARDS)Cyclophospamide, micophenolate mofetil, sildenafil for lung involvement/pulmonary htn
21
Q
pulmonary HTN
A
is highest mortality in diffuse systemic scleroderma
-live about 5 yrs
(CREST doesn’t develop this)
22
Q
inflammatory myopathies
A
polymyositis
dermatomyositis
inclusion body myosities
23
Q
dermatomyositis tx
A
prednisone, methotrexate
24
Q
dermatomyositis classic pres.
A
proximal muscle weakness and a V neck rash
Gottren’s papules present over MCP’s and PIP’s
25
dermatomyositis labs
CPK>1000 implies musc. breakdown
ESR: high
WBC: high
Hgb: low
26
ddx myopathies
```
Inflammatory Myopathy
Hypothyroidism
Drug-induced myopathy (statins)
HIV and other infections
ALS
Myesthenia Gravis
Muscular Dystrophy
Inherited Metabolic Myopathies
```
27
dermatomyositis/polymyositis
Prevalence rates of 4-10/million/year
F:M predominance of 2:1
Peak incidence in 2nd decade for PM
Bimodal pattern for DM, peaks during childhood and between ages of 50
28
DM or PM?
musc. wkness
DM: charac. skin manifest
DM: Ca (bimodal prev.)
diff immunopathogenesis
29
DM immunopathogenesis
Humorally-mediated
Infiltrate located around blood vessels
Vasculopathy involving complement
Inflammatory infiltrate of CD4+ T cells and dendritic cells
Abnormal muscle fibers limited to one portion
-more systemic than PM
30
PM immunopathogen
Direct T-cell mediated muscle injury
Infiltrate within the fascicle invading individual muscle fibers (insidious)
No signs of vasculopathy or immune complex deposition
CD8+ T cells appear to recognize Ag on surface of muscle fibers
31
clinical manifestations of myopathies
```
insidious onset musc. wkness
-symmetric proximal musc.
-distal in late disease
-pharyng/resp. musc
myalgias and tenderness (25-50%)
musc. atrophy in sev., long standing cases
```
32
dermatologic manifestations myopathies (DM)
May precede onset of myositis mod-yrs
Can be most active component of DM and refractory to therapy
*Gottron’s papules* are pathognomonic feature
Heliotrope rash, Shawl sign, Mechanic’s hands, and nailfold abnormalities – all highly characteristic
Raynauds Phenomena in 25% (vasculopathy)
33
Gottron's papules
Erythematous, scaly eruptions occurring symmetrically over MCPs and IP joints, also on extensor surfaces
Pathognomonic for DM
(vs. SLE)
34
heliotrope rxn
purplish reaction (over eye) with DM
35
Shawl sign
photosn rash in DM
36
DM can effect face like
SLE, like "butterfly rash" not as sev.
37
DM pts can dev. ??? in hand joints
calcinosis
38
DM pts can dev. ??? due to vascular changes
linear excoriations
39
pulmonary manifest. in myopathies
Major cause of morbidity and mortality
Occur primarily or secondarily due to muscle weakness
Hypoventilation (22%) (CO2 retention)
Aspiration Pneumonia (17%)
Frequently present with dysphagia, striated muscles of pharynx and upper esophagus
Interstitial Lung Disease (10-45%)
40
Interstitial lung disease (myopathies)
Interstitial infiltrates and fibrosis (destr. of alveoli)
May occur before, concomitantly, or after onset of skin and muscle disease
Restrictive impairment on PFTs with reduced lung capacities and reduced DLCO
High resolution CT
ILD with DM less responsive to steroid therapy
41
myopathies: cardiac manifestations
Frequency in myositis 6-75%
Cause of death in 10-20%
Arrythmias, conduction abnormalities, myocarditis, pericarditis, secondary fibrosis
Elevation in CK-MB due to inflamed skeletal muscle, involvement of myocardium, or mostly commonly to regenerating muscle
42
misc. myopathy manifests.
Fever
Weight loss
Raynauds
Nonerosive inflammatory polyarthritis
Wrists, knees, small joints of hands
Responsive to treatment of myopathy
43
Antisynthetase Syndrome (myopathies)
```
30% pts:
Acute onset of disease
Constitutional symptoms
Raynauds
Mechanics hands
Arthritis
*Interstitial Lung Disease
*Anti-synthetase antibodies (Anti-Jo 1)
```
44
amyopathic DM
don't worry
| skin manifest, no musc
45
malignancy w. myopathies
Immune reaction initially directed at tumor cells
crosses over leading to development of myositis
(Myositis autoantigens)
5-7 fold increase in cancer incidence with DM, pk 2 years before or after myopathy dx
46
malignancies with myopathies: adenocarcinomas
```
cervix
lung
*ovaries*
pancreas, bladder, and stomach (70%)
Nasopharyngeal in SE Asians
```
47
Ca does not affect..
severity or duration of weakness, CK elevation, or extramuscular manifestations
Less likely to have myositis-specific autoantibodies
Inflammatory myopathy responds to treatment of underlying malignancy
survey for 1st 2-3 post-dx (exc. ovarian ca)
48
myopathy/malignancy dx
```
Muscle enzymes
Autoantibodies
EMG
Tissue biopsy
MRI Imaging
```
49
musc. enzyme markers myopathies
| prognostic?
CK, aldolase
LD, AST/ALT
** treatment should be guided at patient’s strength, not concentration of muscle enzymes
50
more myopathy dx
ANA (+) in 80%
Anti Ro/La/RNP to rule out underlying CTD
Myositis-specific antibodies (30%)
51
Ab for mechanic hands, Raynauds, interstitial lung disease
Anti-Jo 1:
| Ab against anti-histidyl tRNA synthetase
52
myopathy dx: EMG
Abnormal in majority, normal in 11%
Not diagnostic but useful in differentiating myopathy from neuropathic disorders
May help direct site of muscle biopsy
53
myopathy dx: MRI
Areas of inflammation and edema with active myositis, fibrosis, and calcifications
Reveals areas of increased T2 signal for biopsy selection
Useful to monitor response to therapy
54
myopathy dx: musc. biopsy
Definitive test
Quadricep or deltoid contralateral to muscle found to be abnormal on EMG
leukocytes invading musc.
55
PM musc. biopsy
inflamm. cells invade healthy musc-->which become rounded and variable in size
56
DM musc. biopsy
atrophy of fibers near fasc. border
| inflamm. cells conc. around BVs (form cuffs) and at border, fiber shrinkage
57
inclusion body myositis biopsy
musc. fiber w/ vacuoles and inclusion bodies
| inflamm. cells btw fibers
58
skin biopsy myopathies
may be non-sp.
DM skin findings (Gottron’s papules, Shawl sign, erythroderma)
-may avoid musc. biopsy if charac. pres.
59
myopathies: worse outcome if:
> 6 months delay in treatment after symptom onset
Profound muscle weakness, respiratory weakness
Dysphagia
ILD or cardiac involvement
Malignancy (don't want to dec. IR)
60
these factors do NOT predict disease course/tx response
Gender, race, presence of rash, CK elevation
61
myopathy morbidities
5 year survival was 52-65% in 1970-80’s
Improved to 75-95% from 2001-2006
MC causes of death malignancy, infections, respiratory failure, cardiovascular disease
62
tx response myopathies
PM patients less responsive to glucocorticoids alone than patients with DM or overlap syndromes
50% PM patients refractory to glucocorticoids
87% DM patients responded initially to steroids but 92% flared when tapered
89-100% response rate in patients with overlap myositis
63
goals of myopathy tx
Improve muscle strength
Avoid development of extramuscular complications
Resolution of cutaneous manifestations in DM
64
myopathy tx
Initiation of high doses of Prednisone (1mg/kg/day) for 4-6 weeks for disease control
Pulse dose methylprednisolone if severely ill
Slow taper to lowest effective dose for total duration of therapy 9-12 months or longer
65
myopathy tx monitor
every few wks
Quadriceps/Hip flexors
Deltoids/Neck flexors
*Muscle strength-reliable indicator (vs. enzymes)
Enzymes levels decline within 2 weeks, longer for normalization
**Adjusting Prednisone dosage to normalize muscle enzymes may lead to overtreatment
66
why glucocorticoids fail in myopathy tx
Alternate diagnosis
Glucocorticoid-induced myopathy
Unrecognized malignancy
67
glucocorticoid sparing agents
after 4-6 wks if no resp. to glucocorticoids
Combination therapy for those with ILD or esophageal dysfunction
Azathioprine – GI, BM, Liver
Methotrexate – Stomatitis, GI, Leukopenia
Antimalarials:
Hydroxychlorquine
Effective in 75% in controlling skin disease
No benefit for muscle disease
68
myopathy tx course
No studies addressing optimal duration of therapy
| Tapering of Prednisone and Azathioprine/MTX based on clinical improvement, remission, and flares
69
other myopathy tx consids.
```
Exercise
Aspiration precautions
Avoidance of sunlight
Osteoporosis prevention
Opportunistic infections
```
70
refractory myopathy tx
(flares)
Add or modify dose of Prednisone
Add, change, or modify dose of Azathioprine/MTX
71
recurrent myopathy tx
```
Rituximab
IVIG
Cyclosporine/Tacrolimus
Mycophenolate Mofetil
Cyclophosphamide
```
72
inclusion body myositis
```
Commonly misdiagnosed as PM
Many “refractory” PM cases are IBM
Make up 15-28% of inflammatory myopathies
Prevalence ranges from 4.9-70 cases/million
M>F, older ppl
distal musc. often normal Cr biopsy
oval, punched out portions of musc.
poor resp. to tx
```
73
IBM clin features
```
Proximal and Distal Muscles
Quadriceps, forearm flexors, foot drop
Asymmetric distribution **
Dysphagia (30-60%)
May be presenting symptom
May have Peripheral Neuropathy
Slowly progressive disease
```
74
IBM dx
Lab Findings
| CK normal/mildly elevated,
75
IBM MRI
Inflammatory changes throughout muscle in IBM vs along fascial planes in PM
Abnormalities localized to anterior muscles with more distal and asymmetric involvement
Fatty infiltration and atrophy
76
IBM musc. biopsy
Definitive test for diagnosis and differentiation
CD8+ T cell infiltration
Basophilic rimmed vacuoles
Eosinophilic inclusions
Filamentous inclusions and vacuoles on EM
** Definitive diagnostic feature
Bind antibodies with affinity for beta amyloid
77
IBM px/tx
Rapid loss of strength and function with older age of onset
Respiratory failure and infection causes of death
Poor response to immunosuppressives and glucocorticoids (only mild improvement, CK declined-no prediction on clinical benefit)
Gender, age, duration do not predict response
78
spondyloarthropathy presentation
```
acutely ill, limp
synovitis, effusion
swollen/tender Achilles tendon (enthesitis)
tenderness along plantar fascia
elevated synovial fluid WBC
elev. ESR, CRP
```
79
spondyloarthropathies
```
Ankylosing spondylitis
Psoriatic Arthritis
Enteropathic Arthritis (Crohn’s/UC)
Reactive Arthritis (formerly Reiter’s Syndrome)
Undifferentiated
```
80
spondyloarthropathy common features
```
Inflammation of axial joints (SI joints)
Asymmetric oligoarthritis
Dactylitis
Enthesitis
Genital/skin lesions
Eye/bowel involvement
Association with infectious disorders
```
81
spondyloarthropathy genetic marker
| dx?
HLA B27 association
| not dx, inclusion factor
82
spondyloarthropathy prevalence
0.5 to 2 percent in Caucasian population
Ankylosing spondylitis and undifferentiated types most common
Reactive arthritis least common
83
spondyarth. muscskel features
Inflammatory back pain
Most common symptom at onset (70%)
Inflammatory vs. Mechanical back pain
Onset
84
spondyarth: peripheral arthritis
Acute onset, affects lower extremities (knees,ankles)
Asymmetrical, affecting 1-3 joints
Joint swelling
enthesitis: Achilles tendon
85
enthesitis
Inflammation at site of insertion of ligaments, tendons
Very specific for spondyloarthritis
commonly seen at insertion of Achilles tendon with swelling or at insertion of plantar fascia ligament into calcaneus
Iliac crest, greater trochanter, epicondyles, tibia, costochondral junctions, occiput, spinous processes
86
dactylitis
“sausage toe/finger”
Differentiated from synovitis by swelling of entire digit
Nonspecific finding
Also seen in TB, syphillis, sarcoid, sickle cell disease
87
spondlyarth.: inflamm. eye disease
Conjunctivitis, anterior uveitis (iritis)
Transient with resolution in several weeks to months
Initial attack acute and unilateral
Episodes do not always parallel disease course
88
spondylarth: inflamm. of bowel mucosa
2/3 of SpA patients have inflammatory lesions
May be acute resembling bacterial enterocolitis
Chronic resembling Crohn’s disease
20% of patients with IBD have signs/symptoms of SpA
89
SpA lab testing
acute phase reactants
**test for bac inf. (G/C) and HIV** C.diff
HLA B27:
Positive in 90% of AS, 70% of undifferentiated SpA
Not diagnostic by itself
Useful in supporting diagnosis in absence of sacroiliitis and ruling out
90
SpA imaging
```
SI joints: (starts here-sacroilitis)
erosions
Sclerosing
Pseudowidening or narrowing of joint space
Partial or total ankylosing
"jig-saw" like: inflamm-->jagged facets
"bamboo spondyloarthritis": lose kyphosis/lordosis, spinal mobility
lumbar vertebrae lose form
```
91
ankylosing spondylitis
Chronic inflammatory disease of axial skeleton
Insidious onset of back pain and progressive spine stiffness
May involve peripheral joints and organs
Onset 20-30 years
Prevalence depending on ethnicity
Caucasians > Hispanics > African Americans
5-6% in HLA B27 positive population
No gender difference
Increased risk 5.6-16 fold if 1st degree relative with AS (10-20% if HLA B27)
92
clinical features ank. spond
Low back pain (> 3 months)
Buttock pain, hip pain and shoulder pain, TMJ
Peripheral arthritis
Acute, nonerosive, nondeforming monoarticular involvement
Limited spinal mobility and chest expansion
Flexion of neck, thoracic kyphosis, loss of lumbar lordosis
Enthesitis, Dactylitis
Constitutional symptoms
Fatigue most common
93
ank. spond dx: spinal mobility
limited
Modified Schober’s Test:
Mark L5 spinous process, mark 10 cm above and 5cm below
Measure distance between 2 marks when bending forward
Increase of 5 cm if normal mobility
Occiput to wall test:
Increased distance indicates increased thoracic kyphosis and loss of cervical/lumbar lordosis
94
ank. spond dx: chest expansion
limited
Measured at level of 4th intercostal space
arms elevated and hands folded behind head
Change of
95
ank. spond dx: hip involvement
Flexion deformity poor prognostic indicator
May be masked by compensatory motion in spine
Have patient lie supine and maximally flex one hip
Flexion deformity of contralateral hip if contralateral knee raises up
96
ank. spond dx misc.
SI joint tenderness
Peripheral joint involvement
Enthesitis/Dactylitis
97
ank spond responds to...
NSAIDS (bad SEs)
| Marked improvement in 24 to 48 hours
98
ank spond imaging
Sacroillitis
Squaring of vertebral bodies on lateral views in early disease
Syndesmophytes, ankylosing of facet joints, calcification of anterior longitudinal ligaments
Bamboo spine: calcification bridges disks
99
ank spond: extraarticular manifests.
```
Acute Anterior Uveitis
Unilateral (25-40%)
50% with acute recurrent uveitis have SpA
Pain, photophobia, blurred vision
Treated with local steroids and atropine
Cataracts, Glaucoma
```
100
ank spond: extraarticular manifests: bone
Osteopenia/Osteoporosis
| Falsely high values on bone density testing due to ankylosing and syndesmophytes
101
ank spond risk considerations
```
Fracture of ankylosed spine
Atlantoaxial subluxation
Cervical cord compression
Most common at C5-C6
Cauda equina syndrome
Bowel inflammation
Cardiovascular disease, AR, Aneurysms
Pulmonary fibrosis and restriction in chest expansion
IgA nephropathy and secondary amyloidosis
```
102
ank spond px
```
Hip involvement
Dactylitis
Onset 30)
Limitation of lumbar spinal motion
Poor efficacy of NSAIDS
```
Male gender, smoking, history of uveitis
103
ank spond tx
NSAIDS
1st line therapy; 70-80% response rate (but CV mort)
Analgesics
Sulfasalazine
For peripheral joint involvement
TNF agents
Infliximab, Etanercept, Adalimumab
80% response rate in first 6 wks of treatment
Improvement of bone density, prevention of uveitis
Costly, no long term data
Physical therapy
104
psoriatic arthritis
Incidence of 6/100,000/year
Prevalence 1-2/1000; 4-30% in patient with psoriasis
Asymmetric joint pain, swelling, and stiffness
Affects DIPs and spine
Less tender than other inflammatory arthritis joint deformities without much pain
105
psoriatic arthritis pres.
Distal involvement of DIPs (vs RA-NOT DIPs!)
Asymmetric oligoarthritis
106
PA clin features
Skin lesions
Usually precede development of arthritis
Arthritis may precede skin lesions in up to 17%
Nail pitting and onycholysis
80-90% vs. 45% in uncomplicated psoriasis
Severity correlates with severity of skin and joint disease
Pitting edema
Uveitis
Dactylitis
Enthesitis
107
PA dx
Elevated ESR
Rheumatoid factor
Positive in 2-10% of uncomplicated psoriasis and psoriatic arthritis
Anti-CCP
8-16% *but mostly RA*
```
Antinuclear Antibodies
Low titers (1:40) in up to 50%
```
108
"pencil in cup" deformity
seen in psoriatic arthritis
109
PA tx
```
NSAIDS
1st line, control mild inflammatory features
DMARDS
Methotrexate
Skin and joint features
Antimalarials
Cyclosporine
TNF agents
Skin and joints
```
** none shown to prevent progression of disease
110
Enteropathic Arthritis
| -not hit much here
Extraintestinal manifestion of IBD
Occurs in 9-53% of Crohn’s/UC patients
Affects males and females equally
Arthritis affecting spine, SI joints
Spondylitis in up to 26%, males >females
Pain and stiffness in back worse in AM or after rest
Sacroiliitis more common with Crohn’s
111
reactive arthritis triad
postinfectious arthritis, urethritis, conjunctivitis
112
react. arth pathogens (enteric/genital)
```
Chlamydia trachomatis
Yersinia
Salmonella
Shigella
Campylobacter
C. difficile
*Get G/C, HIV testing*
*if hosp. check for C. diff*
HIV inf
```
113
react. arthritis
Interval of several days to weeks between preceding infection and onset of arthritis
Asymmetrical mono or oligoarthritis, predominately lower extremities
Prevalence 30-40/100,000; incidence 5-28/100,000/year
114
react arth clin features
Asymmetric oligoarthritis
Enthesitis
Dactylitis
115
react arth clin features: extra-art. symps
```
Dysuria, pelvic pain
Diarrhea
Conjunctivitis
Oral ulcers
Skin and genital lesions
Nail changes
```
116
blennorrhagica
pustular lesions on feet w/ reactive arthritis
117
circinate balanitis
lesion on penis in reactive arthritis
118
react arth dx
Urine, stool, and genital cultures
PCR for Chlamydia
Serologies for Yersinia, Salmonella, Campylobacter
Synovial aspiration and fluid analysis
HLA B27 seen in less that 50%
119
react arth px
Most have complete resolution 6 months after presentation
| Chronic persistent arthritis in small proportion
120
react arth tx
NSAIDS
Symptomatic relief; do not shorten disease course
Intraarticular steroids
Systemic glucocorticoids
DMARDS-rarely
Sulfasalazine if NSAIDS/steroids not effective
121
react arth tx for sev. cases/infection
TNF agents
Indicated for chronic synovitis if contraindication or refractory to Sulfasalazine
Etanercept, Infliximab, Adalimumab
Antibiotics
Indicated for acute infections not to treat arthritis
Indicated for Chlamydia infections; may prevent development of arthritis
Not recommended for uncomplicated enteric infections
No evidence to support long term antibiotic use in reactive arthritis
122
sarcoidosis mediastinoscopy w/ paratracheal LN biopsy
Fragments of lymph node tissue with multiple well-defined *noncaseating granulomas* with rare microcalcifications
Negative stains for acid fast and fungal microorganisms
No evidence of malignancy
123
sarcoidosis MRI b/l Thigh
Extensive myositis involving bilateral adductor brevis, aductor longus, adductor magnus and sartorius muscles
No intramuscular abscess
No evidence of OM
124
sarcoidosis EMG
peripheral neuropathy, myopathy
125
sarcoidosis
Incidence and Prevalence
United States
Blacks affected more than whites 3:1 to 17:1
Blacks peak incidence in 4th decade of life
Women more susceptible than men
2nd most common cause of lung disease in young adults
Age 20-40, with 2nd peak >60
126
sarcoid etiology
```
*Unknown cause
Exaggerated inflammatory immune response
Infectious
Mycobacteria spp
M. tuberculosis katG Ab, heat-shock protein 70 Ab, mycolyl trasferase Ag 85A Ab
Propionibacterium acnes
Cryptococcus spp
Occupational exposure or environmental
Berylium
insecticides
Dust
Autoantigen
```
127
sarcoid patho
Hallmark: *noncaseating granulomas* "hurricane of cellular debris", giant cell formation-no necrosis in center
Local accumulation of inflammatory cells
CD4+ T Cells
Activated monocytes
128
sarcoid genetics
```
HLA (DR17, DRB1*1101)
HLA-DQB1*0201 (Lofgren’s Syndrome)
BTLN-2 gene on chromosome 6p
Negative costimulatory molecule
don't worry
```
129
sarcoid symps
```
Nonspecific
Fever
Sweats
Weakness
Weight loss
Aches and Pains
Psychological Issues
ORGAN SPECIFIC SYMPTOMS
```
130
sarcoid pulm involv
```
Cough, Dyspnea, Chest Pain
>90% Lung involvement
PFTs
Restrictive Pattern
DLCO
Reduced Lung Volumes
Obstructive Pattern
Reduced FEV1/FVC ratio
Pulmonary HTN
5% of patients
70% in end-stage fibrosis
```
131
sarcoid testing
CXR
PFTs
CT scan
132
sarcoid skin
>1/3 of patients
```
Classic lesions
Erythema nodosum
Maculopapular lesions
Hyper- and hypopigmentation
Keloid formation
Subcutaneous nodules
```
133
sarcoid: lupus pernio
Bridge of nose
Beneath eyes
Cheeks
Plaque-like induration
Violaceous discoloration
Erode to cartilage and bone
134
sarcoid: Lofgren's syndrome
B/L hilar adenopathy
Erythema nodosum
Arthritis (ankles)
Uveitis
135
sarcoid: eye
```
Anterior Uveitis
65%
Posterior Uveitis
25%
Retinitis
Pars planitis
```
Slit lamp
fundoscopic
136
sarcoid: liver
```
Granulomatous disease in >50% of patients using bx
20-30% have abnormal LFTs
Elevated alkaline phosphate level
Elevated transaminases
Elevated bilirubin in advanced disease
```
5% have symptoms requiring therapy
137
sarcoid: cardiac
Granulomas in cardiac muscle
Arrhythmias
Cardiomyopathy
Heart block if AV node infiltrated
Mortality due to VT
```
Testing
EKG
24h ambulatory monitoring
AICD
PET Scan, Cardiac MRI
EP study
```
138
sarcoid: metabolic
Calcium Metabolism
Hypercalcemia 10% of patients
Hypercalciuria 40% renal calculi 10%
Measure 24h urinary excretion of calcium
More common in whites and men
Increased production of 1,25-dihydroxyvitamin D
Increased intestinal absorption of calcium
renal:
139
chronic sarcoid
Nondeforming arthritis with granulomatous synovitis
Jaccoud's type deformity (nonerosive joint deformity)
Joint swelling adjacent to a sarcoid bone lesion
Dactylitis (sausage-like swelling of one or more digits)
Acute and chronic gouty arthritis, which can be seen in association with sarcoid
140
sarcoid: nervous system
5-10% of sarcoid patients have neurologic symptoms
Central or peripheral nervous system involvement
Cranial mononeuropathy
Facial nerve palsy
HEREFORDT'S SYNDROME: facial palsy, fever, uveitis, enlargement of the parotid gland
Optic neuropathy
Hypothalamic inflammation
Polyuria, disturbances to thirst, sleep, appetite, temperature, libido
Thyroid, gonadal, or adrenal abnormalities
141
sarcoid: NS 2
```
Granulomatous inflammation of brain
Partial or generalized seizures
Restricted or generalized encephalopathy
Cognitive or behavioral problems
Focal deficits
```
```
Spinal cord (perivascular lesions)
Myelopathy or radiculopathy
```
142
sarcoid: NS 3
Meningeal involvement
Acute aseptic meningitis
Chronic meningitis
CSF: lymphocytic pattern, mild increase in protein, normal to low glucose, oligoclonal bands, elevated ACEs levels
```
Peripheral
Mononeuropathy
Mononeuritis multiplex
Autonomic and motor polyneuropathies
EMG: axonal neuropathy
```
143
aggressive syst. sarcoid tx factors
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Active neurologic (except Bell’s Palsy)
Cardiac involvement
Severe hypercalemia
Occular disease refractory to topical therapy
Lupus pernio
Bulky LAD, symptomatic splenomegaly
Significant hepatic involvement
```
144
sarcoid tx
PREDNISONE
First-line therapy
Starting dose 20mg/day
Monitor closely
Acute disease may require IV therapy
In pulmonary involvement, improvement in symptoms, chest radiographs, and PFTs are typical
Failure to respond within 3-4 months suggests steroid refractory disease
145
sarcoid 2nd line tx
```
Methotrexate
Azathioprine (Imuran)
Leflunomide (+/- MTX)
Mycophenolate
Hydroxycholoroquine
```
