Collagen disorder Flashcards
Case 1
CC: fever and joint pains
History of present Illness
A. C. 14 year old, female, came in to the OPD, because of 1 month
history of undocumented fever, low-grade with pain on the knee
and elbow joint.
ROS: (+) easy fatiguability, (+) rash on the face, (+) unable to
tolerate direct sunlight exposure (avoids going out of the house
without sunglasses)
Family History: unremarkable
Past Medical History: no previous hospitalizations or intake of
unknown medication for a particular illness
Physical Examination:
Awake, not in distress
BP= 130/90 (prehypertension) HR= 92 RR= 16 Temperature= 37C
Pink palpebral conjunctivae, anicteric sclera
(+) multiple oral ulcers
(+) Malar rash
No CLADS
No murmur
Clear BS
Soft abdomen, no organomegaly
Pulses full and equal, no edema, (+) tenderness on palpation of
the right elbow and knee joint
Laboratory:
CBC: hgb 92/ hct 0.3/ wbc 3.0/segs 0.60/ lympho 0.40/plt 100
Urinalysis: tea-colored, sg 1.010, sugar negative, ph 7.2, protein
++, wbc 0-3/hpf, rbc 30-40/hpf, no casts
Chest Xray: normal
Anti dsDNA – positive
ANA - positive
ESR elevated, CRP normal
What is your primary working impression?
Systemic Lupus Erythematosus
Basis of diagnosis
History:
14 year old –>Childhood SLE is rare before 5 years of age
and usually diagnosed in adolescence. Majority diagnosed before age of 16 years old
Fever, easy fatiguability –>
Constitutional signs for SLE together with anorexia, weight loss and
lymphadenopathy
Joint pain Arthritis is another potential clinical
manifestation of SLE
Unable to tolerate sunlight
exposure –> Photosensitivity
Rash on the face –> “malar rash”
PE:
BP= 130/90–>Hypertension as a Renal manifestation in SLE
Multiple oral ulcers –> Criteria for SLE
Malar rash–>Criteria for SLE
Tender elbow and knee joint–>
Joint pains or arthritis > 2 joints, criteria for SLE
Laboratory:
CBC hgb 92, wbc 3.0 –>
Anemia, leucopenia as a hematologic
manifestation
Urine rbc 20- 30, protein ++ –>
Proteinuria as a renal manifestation
ANA positive–> Criteria for SLE
Anti dsDNA, ESR elevated –> Immunologic
Basis for diagnosis
Patient has Malar Rash, Oral Ulcers, photosensitivity,
hypertension and proteinuria as Renal Manifestation, (+) ANA,
(+)antidsDNA, arthritis of more than 2 joints. (Patient has fulfilled
more than of the 4 criteria for SLE)
What are the differentials?
—–Fever and Joint Pains/ Arthritis—–
A. Rheumatic and Inflammatory
1. Juvenile Idiopathic Arthritis
2. Juvenile Dermatomyositis
3. Vasculitis: Takayasu, HSP, PAN
4. Reactive arthritis – Reactive and postinfectious arthritis, ARF
5. infectious – Septic arthritis
6. Metabolic – Gouty arthritis
7. Musculoskeletal syndromes – Growing pains
8. Drug-induced – Drug-induced lupus
What are the labs to request? give expected findings
Laboratory:
1. Positive ANA result is present in 95-99%
2. Anti dsDNA – more specific; correlate with disease activity
3. Inflammatory markers : elevated ESR; CRP – may signify infection if elevated
4. CBC : hemolytic anemia; leucopenia (<4.0), thrombocytopenia (<100)
5. Urinalysis: look for signs of proteinuria or cellular casts
6. Xrays: check for pleuritis, pericarditis, peritonitis
Management of this case
Management:
PHARMACOLOGIC
* Hydroxychloroquine
o 5-7 mg/kg/day
* Corticosteroids
o High dose Methylprednisolone
(30mg/kg/day)
o Prednisone (1-2 mg/kg/day)
* Steroid Sparing Immunosuppressive agents
o Methotrxate, cyclophosphamide
NON- PHARMACOLOGIC
* Monitor risk for Atherosclerosis: cholesterol, smoking,
BMI, BP
* Monitor adequate intake of Calcium and Vitamin D to
avoid Osteoporosis
* Immunization with flu and pneumococcal vaccines
* Counseling for adolescent girls to avoid pregnancy.
Pregnancy can worsen SLE.
Case 2
A 17 y/o female came in to your clinic for bilateral lower extremity
weakness
4 weeks prior, she noted difficulty in getting up at morning. She
had difficulty in walking as well, with no associated pain and
tenderness.
2 weeks prior to consult, there was note of progression of severity
of weakness.
On day of consult, patient is not able to walk.
ROS: no bowel and bladder incontinence
Past Medical Hx: Had appendectomy at 7 years old. No known
drug allergies
HEADSSS: Unremarkable
OB/Mens Hx: no dysmenorrhea, with 21 day cycle, 4-5 days
menstruation consuming 3 ppd
P/Sx: Patient is a casual smoker, non-drinker, no illicit drug use. 1st
year college student with average scholastic performance
Physical examination
Wheel-chair borne, not in distress, fully conversant and oriented
to 3 spheres
Recumbent Length: 150 cm weight 45kg
BP 110/70 HR 88 RR 16 T 36.8 C
sats 99%
Anicteric sclerae, pink conjunctivae, no LADs
Equal chest expansion, clear breath sound, no adventitious lung
sounds
Adynamic precordium, distinct heart sounds, normal rate and
regular rhythm
Flat, NABS, no masses/tenderness
Full and equal pulses, good CRT, has gr1 bipedal edema, has
violaceous rashes over arms, non-pruritic. No deformities
Neuro exam: CN intact, no sensory deficits, 2/5 bilateral lower
extremities, 4/5 bilateral upper extremities, DTRs 0 on knee and
ankle. DTRs 2+ on arms. No Babinski, no clonus.
Intact rectal vault, SMR4
CBC
Hgb 155, Hct 0.51, WBC 11.0, Neuts 0.65, Lym 0.22, Plt 350
MCV 55, MCH 22, MCHC 25, RDW 19
Elevated ESR, CRP
Na 143, K 4.5, Cl 91, AST 80, ALT 140, TB 1.1
CK total 180
Spinal MRI unremarkable
What is your primary working impression?
Juvenile Dermatomyositis
Most common idiopathic inflammatory myopathy of childhood
accounting for approximately 85 percent of cases
Juvenile Dermatomyositis
What are your differentials?
Differentials:
1. Non-inflammatory myopathy (DMD, BMD, metabolic
and mitochondrial myopathy)
- RI: generalized weakness
- RO: congenital onset
2. Infectious myositis
- Prominent pain (in viral/bacterial myositis)
- History of past infections
3. Other CT d/o’s
- Different clinical manifestations
4. Denervation disorders or neuropathy
- Can manifest as either LMN or UMN, usually with focal
neurologic signs
What are the diagnostics?
Diagnostics
Muscle enzymes (CK, aldolase B, AST/ALT, LDH)
MRI
CBC
Inflammatory markers/acute phase reactants (ESR/CRP)
***Muscle biopsy (most definitive)
What is the management of juvenile dermatomyositis?
Management
Oral prednisone versus intravenous methylprednisone. IV for initial doses then shifted subsequently to oral. Or for emergent/urgent cases (respiratory muscle paralysis, swallowing paralysis etc). For mild weakness, can opt to give oral prednisone
Steroid sparing therapy (methotrexate, intravenous
immunoglobulin, cyclosporine, cyclophosphamide, rituximab,
abatacept, etc)
Sunscreen to avoid photosensitive rash of JDM
Topical agents (steroids) to treat localized skin disease
Vitamin D and Calcium supplementation
Physical therapy and occupational therapy
Complications
Osteoporosis, calcinosis, intestinal perforation
Gen Peds care
Routine
Case 3
10 year old/ male from Sampaloc, Manila
CC: leg pain
History of Present Illness
4 weeks prior to consult, the patient had watery nasal discharge
with low grade fever. No medications were taken and no medical
consult done, and the symptoms resolved spontaneously.
10 days prior to consult, the patient was noted to have leg pain,
self-medicated with Paracetamol with no relief from symptoms.
1 week prior to consult, noted to have rash on the torso.
Persistence of leg pain and rash prompted consult.
Ancillary History
Past Medical History: no history of asthma
Family Medical History: (-) Family history of bronchial asthma, no
history of malignancy
Birth and Maternal History: Born FT to a 25 yo G2P1 mother, no
FMC
Immunization history: given BCG x 1 dose, OPV x 3 doses,
Hepatitis B x1 dose, DPT x 3 doses , measles x 1 dose c/o the local
health center.
Nutritional History: breastfed for one month only then shifted to
formula feeding, presently non picky eater
Developmental History: at par with age
Personal/Social History: lives in a rented apartment, father and
mother both employed, 2nd of 3 siblings
PHYSICAL EXAMINATION
General Survey
Awake, not in cardiorespiratory distress
Anthropometrics
Weight =22 kg
Vital signs
BP 120/60 HR 97 bpm RR 29 bpm T 36.5C O2 sats (room air)
= 100%
Skin: Mottled reticular pattern of the skin on the torso
Head and Neck : Pink conjunctivae, anicteric sclerae, (-) nasal
congestion, (-) cervical lymphadenopathies
Chest and Lungs: Equal chest expansion, (-) retractions, (-)rales, (-
) wheezes
Cardiac: Adynamic precordium, normal rate and regular rhythm
Abdomen: Normoactive bowel sounds, (-) masses/tenderness, (-)
hepatomegaly, intact Traube’s space
Genitalia : (+) testicular tenderness
Extremities: Full and equal pulses, (-) edema/cyanosis/clubbing,
(+) leg muscle tenderness
NeuroPE: (-) limitation of range of joint movement, (+) 50%
sensation on bilateral fingers, no unusual movements
LABORATORY RESULT:
CBC Result
WBC 5 x109/L
RBC 3.1x109/L
Hgb 100 g/L
Hct 0.37%
MCV 85fL
MCH 25 pg
Platelets 350x109/L
Neut% 0.7
Lymph% 0.3
Mono% 0.0
Eo% 0.0
Baso% 0.0
UN: 43 mg/dL (elevated)
Serum creatinine: 2 mg/dL (elevated)
Serum anti-HBs : reactive
HBsAg: nonreactive
ASO titers: negative
15 L ECG: normal
Urinalysis: (+) 20 RBC/HPF, (+) casts, (+) protein
Conventional Angiography: stenoses of medium- and small-sized
muscular arteries
Histopathology: Necrotizing vasculitis of medium- and small-sized
muscular arteries
What is your primary working impression?
Polyarteritis nodosa
What are the basis for your diagnosis?
Basis for Diagnosis
(12) History
Prior history of URTI
Leg pain
Rash
Weight loss
Incomplete Hep B immunization
(13) Physical Examination
hypertensive
livedo reticularis
Myalgia
Peripheral neuropathy
Renal involvement
What are your differentials?
ACUTE RHEUMATIC FEVER
Rule in:leg pain, prior URTI, rash
rule out: erythema
marginatum vs livedo
reticularis
N ECG,
negative ASO titers
Hypertension not a feature
ACUTE PSGN
Rule in: Hematuria, Hypertension
Prior URTI
Rule out: No rash
Does not present with
peripheral neuropathy or pain
HSP
Rule in: rash, small vessel vasculitis, hematuria
Less likely: pathognomonic rash is palpable arthritis vs myalgia
absent abdominal pain
Vessels involved in TAKAYASU ARTERITIS?
Elastic
(large) or muscular
(medium-sized) arteries
Organ involvement:
Aorta, aortic arch
and major branches, and
pulmonary arteries
Type of vasculitis
and inflammatory cells
Granulomatous with some giant
cells; fibrosis in chronic stages
Vessels involved in Polyarteritis nodosa?
Medium and small sized muscular
arteries
organ involvement: Skin,
peripheral nerve, GI tract, and
other viscera
Type of vasculitis:
Necrotizing, with mixed
cellular infiltrate
What is Wegener granulomatosis?
Small-sized arteries and veins;
sometimes medium sized
vessels
Upper respiratory tract, lungs,
kidneys, skin, eyes
Types of vasculitis:
Necrotizing or granulomatosus (or both); mixed cellular infiltrate,
plus
What is Churg-strauss syndrome?
Smallsized arteries and veins;
sometimes medium-sized
vessels
Upper respiratory tract,
lungs, heart, peripheral
nerves
Necrotizing or granulomatous (or
both); prominent eosinophils, and
other mixed infiltrate
What is your plan of management for this patient?
k. Diagnostic Tests/Labs
Clinical Diagnosis
Conventional Angiography or biopsy - evidence of small or medium-sized arteries
CBC – N
Anti-HBs- Previous hep B infection
Urinalysis – evidence of renal involvement
What are the goals of management?
b.1. Goals of Management:
Pharmacologic management
Steroids (prednisone (0.5-2.0
mg/kg/day) for short term treatment
control of symptoms, the steroids-paring immunosuppressants
(methotrexate or azathioprine) for
long term treatment to avoid organ
damage
Non-pharmacologic management
Refer to Rheumatology: <1%
mortality; Chronic vascular injury,
increased arterial rigidity, vascular
dysfunction
b.2. Anticipatory care
Proper nutrition
Prevention of injury
Update of immunization
Deworming
Mineral supplementation
Arthritis – tenderness, swelling, erythema, warmth to touch, limitation of motion
Arthralgia – joint tenderness, limitation of motion
What is pGALS?
pGALS – pediatric GAIT, ARMS, LEGS, & SPINE
- Musculoskeletal assessment to differentiate abN from N joints
- GALS to test for foot, ankle, wrist, TMJ
When to perform?
When to perform:
o Unwell child with pyrexia
o Child with limp
o Delay/regression of motor milestones
o Chronic disease and known association with
MSK presentations (IBD)
o “clumsy” child with absence of neurological
disease
When to suspect inflammatory joints suspect?
Inflammatory joints suspect:
1. Lack of pain does not exclude arthritis
2. Probe for sx:
a. Gelling – stiffness after long car rides
b. Altered function – play, handwriting, skills, regression of milestones
c. Deterioration in behavior – irritability, poor sleep
Algorithmic approach to joint pain and swelling
p.241
pGALS screening questions?
pGALS screening questions
1. any pain?
2. problems with dressing?
3. problems with walking?
- assess appearance vs involvement of gait, arms, leg, spine
What is SLE? give the etioathogenesis
CH 158: SYSTEMIC LUPUS ERYTHEMATOSUS (SLE)
Etiopatho
- Autoantibody production against self-antigens
resulting in inflammatory damage to organs
- Incidence of 31 per 100,000 Asian children with female
predominance
- Median age of dx: 11-12yo
- Fibrinoid deposits found in blood vessel walls of
affected organs, skin, joints, kidneys, blood-forming
cells, blood vessels, and CNS
- Onset à dx is variable: 1 mo – 5 yrs, median 4-8mos
- 5-yr survival rates: >95%
- 10-yr survival rate: 86%
What are the manifestations of SLE?
SOAP BRAIN MD
Serosis
Oral ulcers
Arthritis
Photosensitivity
Blood (hematologic abnormalities)
Renal
ANA (95% positive)
Immunologic
Neurologic manifestations
Malar rash
Discoid rash
What is the ACR Criteria for SLE
Any 4 of 11 criteria present (serially or simultaneously during any interval)
-No distinction is made between clinical and immunologic criteria in determining whether the required number has been met
Clinical criteria
1. Malar rash- fixed erythema, flat, or raised over the malar eminences, tending to spare the nasolabial folds
- Photosensitivity- rash from an unusual reaction to sunlight; by patient history or clinical observation
- Discoid rash-erythematous raised patches with adherent keratotic scalling and follicular plugging; atrophic scarring may occur in older lesions
- Oral ulcers- oral or nasopharyngeal ulceration usually painless; observed by clinician
- Arthritis- nonerosive arthritis involving ≥2 peripheral joints; characterized by tenderness, swelling or effusion
- Serosis-
pleuritis: hx of pleuritic pain or rubbing heard by a clinician or evidence of pleural effusion
OR pericarditis: documented by ECG, rub or evidence of pericardial effusion - Renal disorder: persistent proteinuria >500mg/24hrs or >3+
OR
Cellular casts (may be red cell hemoglobin, granular, tubular or mixed) - Neurologic disorder:
seizure OR psychosis in the absence of offending drugs or known metabolic derangements - Hematologic disorders: hemolytic anemia with reticulocytosis OR
leukopenia <4000/mm3 on ≥2 occasions
OR
lymphopenia <1500/mm3 on ≥2 occasions OR thrombocytopenua <100,000/mm3
IMMUNOLOGIC Criteria
ANA: abnormal titer in abscence of drugs associated with drug-induced lupus
Immunologic disorders: Anti-DNA or Anti-Sm or positive antiphospholipid antibody (Ab) (anticardiolipin IgG or IgM, lupus anticoagulant, or false-positive serologic test for syphilis)
What is the SLICC Criteria for SLE?
4 of 17 criteria including at least 1 clinical criterion and 1 immunologic criterion OR biopsy-proven lupus nephritis
- Acute cutaneous lupus: malar rash, bullous lupus, TEN variant of SLE, maculopapular or photosensitive lupus rash OR
subacute cutaneous lupus (nonindurated psoriaform and/or annular polycyclic lesions that resolve without scarring) - Chronic cutaneous lupus: classic discoid rash, localized (above neck), discoid rash, generlaized (above and below the neck) discoid rash, hypertrophic (verrucous) lupus, lupus panniculitis (profundus), mucosal lupus, lupus erythematosus tumidu, chiblain lupus OR discoid lupus/lichen planus overlap
- Nonscarring alopecia: diffuse thinning or hair fragility with broken hairs (in absence of other causes)
- Oral or nasal ulcers: palate, buccal, tongue, OR nasal ulcers
- Joint disease: synovitis involving ≥2 joints, characterized by swelling or effusion OR tenderness in ≥2 joints, ≥30 minutes of morning stiffness
- Serositis: typical pleurisy for more than 1 day, pleural efffusions, or pleural rub
OR pericardial pain (pain with recumbency improved by sitting forward) for ≥1 day, pericardial effusion, pericardial rub, or pericarditis by ECG - Renal: urine protein-to-creatinine ratio (or 24hr urine protein) representing 500mg protein/24 hours or RBC cast
- Neurologic: seizures, psychosis,myelitis, peripheral or cranial neuropathy OR acute confusional state
- Hemolytic anemia
- Leukopenia or lymphopenia
Leukopenia <4000/mm3 at least once OR lymphophenia <1000/mm3 at least once - Thrombocytopenia <100,000/mm3 at least once
- ANA - abnormal titer
- Immunologic disorders
*Anti-dsDNA/Anti-Sm- abnormal titers
*Antiphospholipid: +lupus anticoagulant, false positive result for rapid plasma reagin, abnormal serum level or aticardiolipin antibody or ant-beta 2-glycoprotein 1
*low complement: low C3, low C4 or low CH50
*Direct Coombs’: positive test in the absence of hemolytic anemia
Management of SLE
Mgt
- Depends on the affected organ and disease severity
- Serologic markers are used as guide
- Most important mgt tool: meticulous and frequent reevaluation
1. Mild disease – patients who do not have renal or other
life-threatening involvement
- NSAIDs
- Hydroxychloroquine 5-7mkd: treats rash, mild arthritis,
and flares, improves lipid profiles. Potential side effects
include retinal pigmentation and impaired color vision.
- Low dose glucocorticoids: when complement levels
rise to within N range, steroids are tapered over 2-3 yrs
to the lowest effective dose
2. Mod-severe ds – patients with clinically significant
organ involvement to life-threatening situation
- High dose CS or pulse therapy with
methylprednisolone: once with hematologic,
neurologic, or renal involvement
- Hydroxychloroquine
- Mycophenolate mofetil
- Cyclophosphamide
- Rituximab
- If persistent ds: methotrexate, leflunomide,
azathioprine to limit cumulative steroid exposure
Prognosis of SLE
Prognosis
- With progress in diagnosis and treatment, 5-year
survival rate is >90%
- Mortality from infection, complications of GN, CNS ds,
pulmonary hemorrhage, myocardial infarction
