CASE PRESENTATION

SYSTEMIC LUPUS ERYTHEMATOSUS

(SLE)

Prepared by:

TADINA, NISSI

BORJA, NINA

GURTIZA, JOANNA EDEN

NEUROLOGIC EVALUATION

PERSONAL INFORMATION:

Patient’s Name: L.J

Age: 48 y.o
Sex: Female
Address: San Fernando, La union
Civil Status: Married
Handedness: (R)
Occupation: None
Religion: Roman Catholic
Referring Dr.: Dr. G.
Rehab Dr./ PT IC: Arman Garcia, PTRP
Date of Referral: 03/14/18
Date of Consultation: 03/14/18
Diagnosis/ PT I mpression: ascites 2° cholelithiasis

SUBJECTIVE INFORMATION

c/c: pt. complains of ® sided weakness on UE/LE.

HPI: (Informant: mother)

Patient present condition started 2016 when patient had stroke in Greece. Patient was sent
home in the Philippines due to her condition. Patient’s mother stated that upon arrival in the Philippines
patient can no longer ambulate, and having difficulty in speaking accompanied with (L) sided weakness.
She also noticed a skin rash on her face.

Upon arrival at Ilocos patient was brought to Gabriela Silang Hospital and was attended by Dr.
Unrecalled. Pt. was admitted for 3 days. Then after, pt. was transferred to ITRMC d/t lack of facilities on
the previous hospital.

December 2017, pt.’s mother noticed enlargement of pt’s abdomen and rashes spread on her
face. Patients mother decided to seek medical attention to ITRMC, upon arrival, patients vital signs were
taken. Patient was attended by Dr. G and was advised to be admitted for further evaluation. Patient
underwent US of whole abdomen and was given medication. Patient was then referred to undergo PT
rehab for further evaluation and treatment.

PMHx:
(+) HTN
(+) Heart dse.
(+) DM
(-) Arthritis

FHx:
Condition Mother Father
HTN (-) (+)
DM (-) (+)
Heart Dse (-) (-)

Ancillary Procedures:
Procedure Date Result
US February 8, 2018 Diffused hepatoparenchymal
change suggestive of fatty liver
infiltration
Cholesterolysis
 Sonographically unremarkable
pancreas, spleen, kidney and
urinary bladder

Medication: Unrecalled
PSHx:
Pt. has sedentary lifestyle
(-) smoker
(-) alcoholic beverage drinker
Pt. lives in a bungalow type of house with her mother and brother

OBJECTIVE INFORMATION

VS:
BP= a = 110/90 mmHg p:110/8mmHg
T°= Afebrile to touch

OI:

Manner of arrival: bedbound

Mental Status: Alert / Incoherent / Cooperative
Physique: Endomorph
Attachment: (+) IV line R dorsum of hand
Others:
(+) butterfly skin rash
(+) Wernicke’s Aphasia
(+) slurred seech
(+) enlarge abdomen
(-) facial asymmetry
(-) swelling
(-) contracture
(-) atrophy
(-) trophic skin changes on B UE/LE
(-) flexor synergy

PALPATION:

Thermal assessment: Normothermic on all exposed body parts

Tone assessment: Normotonic on (B) LE & UE
Others:

(+) Gr 1 spasticity on (R) elbow

(+) muscle guarding towards R hip flexion
(-) Muscle spasm
(-) Edema on both upper and lower extremity
(-) Tenderness
(-) Subluxation
(-) Crepitus
(-) subluxation

MMT:
Findings: All major (m) of (L) UE/LE are grossly graded 5/5 except for ® UE/LE are grossly graded 1/5.

Sig: (m) weakness on 2° to prolonged immobilization and ms disuse.

ROM:
 Findings: All major joints o (B) UE & LE are WNL actively and passively done c normal end-feel except
for:

Motion PROM NORMAL DIFFERENCE END FEEL

(Passive)
R elbow flexion 0-125 0-150 25 Mushy
R external 0-52 0-90 38 Mushy
rotation
R wrist 0-45 0-70 25 Mushy
extension
R knee flexion 0-40 0-135 95 Mushy
R hip flexion 0-50 0-120 70 Mushy
R hip abduction 0-25 0-45 20 Mushy
AROM PROM NORMAL DIFFERENCE DIFFERENCE END FEEL
(Active) (Passive)
L hip flexion 0-60 0-70 0-120 60 50 Mushy
Sig: Limited ROM on R elbow flexion, external rotation, wrist extension, knee flexion, hip flexion, hip
abduction, and L hip flexion 2o tightness

Neurological Evaluation:

A. Sensory Assessment
Devices Used: Pin for pain, brush for light touch and thumb for deep P°
Findings: intact sensation on (L) UE/LE; 50% sensation on ® UE/LE
Sig:

B. DTR:
(L) (R)
Legend: 0 Areflexia
+++ +++ + Hyporeflexia
++ Normoreflexia
+++ Hyperreflexia
++++ Clonus

+++ +++
Others:
Findings: Hypereflexive on (B) UE/LE
Sig: 2O UMNL

Pathologic reflexes:
(-) Babinski
(-) chaddocks
(-) clonus

Sig: 2O UMNL

Associated reaction:
(+) homolateral limb synkinesis
(-) raimistes phenomenon
(-) soque’s phenomenon

Sig: 2O UMNL

Postural Analysis: N/A

GA: N/A

ADL’s: pt. is dependent in all aspects of ADL as to self-care, bed mobility, locomotion and transfers.

ASSESSMENT

Problem list:
1. Total dependence all aspects of ADL as to self-care, bed mobility, locomotion and transfers.
2. Decrease ms. Strength on ® UE/LE
3. Limited ROM on R elbow flexion, external rotation, wrist extension, knee flexion, hip flexion, hip
abduction, and L hip flexion
4. Gr 1 spasticity on (R) elbow
5. muscle guarding towards R hip flexion

Long Term Goal (6 mos):

1. Pt. Will be able to achieve moderate assistance to modified independence on all aspects of ADL
as to self-care, bed mobility, locomotion and transfers.
2. Pt. will be able to achieve optimum ms. Strength on ® UE/LE
3. Pt. will be able to achieve functional ROM on R elbow flexion, external rotation, wrist extension,
knee flexion, hip flexion, hip abduction, and L hip flexion
4. Pt will be able to prevent secondary complications such as atrophy, deformity and contracture

Short Term Goal (3 mos):

1. Pt. will be able to achieve total assistance to moderate assistance on all aspects of ADL as to
self-care, bed mobility, locomotion and transfers.
2. Pt. will be able to achieve increase ms. Strength from 1/5 to 3/5 on ® UE/LE
3. Pt. will be able to achieve an increase ROM by 5-10 increments on R elbow flexion, external
rotation, wrist extension, knee flexion, hip flexion, hip abduction, and L hip flexion
4. Pt will be able to eliminate muscle guarding towards R hip flexion.

P:

PT MX:
1. ES on R UE/LE x 20’
2. AAROME L UE/LE
3. PROME to R UE/LE
4. Stretching to R Sh, elbow, wrist, finger, hams, knee flexion and ankle PF/DF
 Systemic lupus erythematosus (SLE)

It is a multisystem autoimmune disease of protean manifestations and variable clinical behavior.

Clinically, it is an unpredictable, remitting and relapsing disease of acute or insidious onset that may
involve any organ in the body; however, it affects principally the skin, kidneys, serosal membranes,
joints, and heart.

Immunologically, the disease is associated with an enormous array of autoantibodies, including

antinuclear antibodies (ANAs).

The clinical presentation of SLE is overlapping features with other autoimmune diseases (RA,
polymyositis, and others).

Incidence and prevalence

As with many autoimmune diseases, there is a strong (approximately 9 : 1) female

preponderance. The disease affects 1 in 700 women of childbearing age.

SLE is more common and severe in black Americans, affecting 1 in 245 women in that group. Onset
typically is in the second or third decade of life, but it may manifest at any age, including early
childhood.

Pathogenesis

Failure to maintain self-tolerance, leading to the production of a large number of autoantibodies

that can damage tissues either directly or in the form of immune complex deposits. The pathogenesis of
SLE involves a combination of genetic and environmental factors.

Genetic Factors

 Familial association- Family members have an increased risk for the development of SLE,
and up to 20% of clinically unaffected first-degree relatives may have autoantibodies. There
is a high rate of concordance in monozygotic twins (25%) versus dizygotic twins (1% to 3%).
 HLA association- The odds ratio (relative risk) for persons with HLA-DR2 or HLA-DR3 is 2 to 3,
and if both haplotypes are present, the risk is about 5.

Environmental Factors

 Ultraviolet (UV) radiation (sun exposure)- exacerbates the lesions of SLE. A postulated
mechanism of this effect is that UV radiation causes apoptosis of host cells, leading to an
increased burden of nuclear fragments and inflammatory responses to the products of dead
cells.
 Cigarette smoking has been shown to be associated with the development of SLE. Although
the mechanism of this is unknown, smoking tobacco may modulate the production of
autoantibodies.
 Sex hormones had been thought to exert an important influence on the development of
disease, because SLE is 10 times more common in women during reproductive years than in
men of similar ages but only 2 to 3 times more common in women during childhood or after
the age of 65.
 Drugs such as procainamide and hydralazine can induce an SLE-like disease, although
typically glomerulonephritis does not develop. These drugs cause demethylation of DNA,
which could influence the expression of a variety of genes involved in the development of
autoimmunity, or the ability of DNA to activate host cells.

Immunologic Abnormalities in SLE

  Type I interferon- Blood cells show a striking molecular signature that indicates exposure to
interferon-α (IFN-α), a type I interferon that is produced mainly by plasmacytoid DCs. Some
studies have shown that such cells from patients with SLE also produce abnormally large
amounts of IFN-α.
 TLR signals- Studies in animal models have shown that TLRs that recognize DNA and RNA,
notably the DNA- recognizing TLR9 and the RNA-recognizing TLR7, produce signals that activate
B cells specific for self nuclear antigens.
 Failure of B cell tolerance- Studies with B cells from patients with SLE suggest the presence of
defects in both central and peripheral tolerance, resulting in a higher frequency of autoreactive
B cells than that typical for healthy people.

Spectrum of Autoantibodies in SLE

Antibodies have been identified against a host of nuclear and cytoplasmic components of the
cell that are specific to neither organs nor species

 Antinuclear antibodies- ANAs are directed against several nuclear antigens and can be
grouped into four categories:

(1) antibodies to DNA

(2) antibodies to histone

(3) antibodies to nonhistone proteins bound to RNA

(4) antibodies to nucleolar antigen

ANA testing by immunofluorescence assay (IFA) is extremely sensitive, as more than 95% of patients
with SLE will test positive.

ANAs are seen in approximately 5% to 15% of healthy people, and the incidence increases with age.
Antibodies to double- stranded DNA (dsDNA) and the so-called Smith (Sm) antigen can be detected by
ELISA or multiplex flow methods and are specific for SLE.

 Antibodies against blood cells, including red cells, platelets, and lymphocytes, are found
in many patients. Antiphospholipid antibodies are present in 40% to 50% of patients
with lupus and react with a wide variety of proteins in complex with phospholipids.
 Some bind to cardiolipin antigen, used in serologic tests for syphilis, so patients with
lupus may have a false-positive test result for syphilis. Antiphospholipid antibodies
contribute to coagulation abnormalities

Reference:

Robbins Basic Pathology (9th Edition)

C. Rheumatoid arthritis
 Definition
- Is a chronic inflammatory disease of unknown etiology marked by a symmetric, peripheral
polyarthritis wich affects peripheral joints especially small joints of hands and feet . It is the
most common form of chronic inflammatory arthritis and often results in joint damage and
disability.

 Etiology- cause of rheumatoid arthritis is not clear, it is believed to involve a combination of

genetic and environmental factors. The underlying mechanism involves the body's immune
system attacking the joints
 Epidemiology
a. Prevalence: occur in 1% of the adult population
:the prevalence in males over 65 years of age is about 1.9%, and for
females about 5.0%
b. Gender: (female: male ratio of 3:1)
c. Incidence: annually 25-30 new cases/ 100,000 population
d. Peak age of onset : fourth or fifth decade for women and the sixth to eighth decades for
men
e. Pattern at age of onset: usually polyarticular, affecting the wrist, metacarpophalangeal
and proximal interphalangeal joints. At onset 20% of patients have monoarticular
disease, whereas 80% have multiple (two or more) joints involved
f. Genetic: greatest risks in persons who are HLA- DR4 and HLA- DR1 positive

 Pathophysiology
- Genetic, epigenetic and environmental factors
- The MHC class II gene, HLA-DR4, is the major susceptibility haplotype in 50–75% of
Caucasian patients with RA
- DR1 is more important in Indians and Israelis, and DW15 in Japanese
- Porphyromonas gingivalis, present in the mouths of people with periodontal disease,
appears to stimulate the production of ACPA linked to rheumatoid arthritis
- The clinical onset- infiltration of the synovial membrane with lymphocytes, plasma cells,
dendritic cells, macrophages
- CD4+ T lymphocytes, including Th1 cells and Th17 cells plays a central role by interacting
with other cells in the synovium
- Lymphoid follicles form within the synovial membrane in which T cell–B cell interactions
lead B cells to produce cytokines and autoantibodies, including RF and ACPA.
- Synovial macrophages - activated by immune complexes - produce proinflammatory
cytokines, including TNF, IL-1, IL-6 and IL-15
- Proinflammatory cytokines act on synovial fibroblasts, to promote swelling of the
synovial membrane and damage to soft tissues and cartilage.
- Activation of osteoclasts and chondrocytes drives destruction of bone and cartilage
- The RA joint is hypoxic and this promotes new blood vessel formation (neoangiogenesis)
- The inflammatory granulation tissue (pannus) formed by the above sequence of events
spreads over and under the articular cartilage, which is progressively eroded and
destroyed.
- Later, fibrous or bony ankylosis may occur.
- Muscles adjacent to inflamed joints atrophy and may be infiltrated with lymphocytes

 Signs and Symptoms

- Highly variable
- Symmetric swelling of multiple joints with tenderness and pain is characteristic
- >6 wk of pain, swelling, warmth in one or more peripheral joints, frequently with
symmetric joint involvement involving wrists, hands, and/or feet, and often associated
with >1 hr of morning stiffness.
- Most common joints involved include MCP, PIP, wrists, MTP, ankles, elbows, shoulders,
hips, and knees.
- DIP joints, Sacroiliac and vertebral joints are spared except for C1 to C2.
- Atlantoaxial (C1–C2) subluxation can lead to myelopathy.
- Subluxation of cervical spine. Flexion, showing widening of the space between the
odontoid peg of the axis (behind) and the anterior arch of the atlas
- Can also include fatigue, lack of appetite, low- grade fever, muscle and joint aches and
stiffness
- Characteristic deformities in hands with long- standing uncontrolled disease, including
a. ‘swan neck’ deformity
b. boutonnière or ‘button hole’ deformity
 c. Z deformity of the thumb
- Dorsal subluxation of the ulna at the distal radio- ulnar joint is common and may
contribute to rupture of the fourth and fifth extensor tendons.
- Triggering of fingers may occur because of nodules in the flexor tendon sheaths.
- Bony bumps on the finger joint closest to the fingernail are called Heberden's nodes.
Bony bumps on the middle joint of the finger are known as Bouchard's nodes.

 Clinical Manifestations
a. Articular
- pain is affected joint aggravated by movement is the most common, morning
stiffness is >1hr,joints involved: MCP and PIP joints of hands and MTP of feet, knees,
ankles and wrist, shoulder, elbow, TM, Acromio-clavicular & SC joint
b. Extra- articular
- patients have: high-titer RF, more severe disability, increased mortality rate
a. Heart- pericarditis, cardiomyopathy, and valvular incompetence, interstitial
fibrosis
b. Lungs- Rheumatoid lung (Honeycombed appearance on CXR due to multiple
nodules), Caplan syndrome (associated with pneumoconiosis), Idiopathic pulmonary
fibrosis
c. Eyes- scleritis (most common ocular complication of RA), scleromalacia
perforans)
d. Nervous system- mononeuritis multiplex, compression syndromes such as median
neuropathy
e. Kidneys- amyloid deposition
f. Hematopoietic system- Feltys syndrome (anemia, splenomegaly, and leukopenia)
g. Vasculitis: usually is a non necrotising arteritis of the small terminal arterials, Skin
lesions, leg ulcers, necrotizing arteritis of the viscera, digital infarctions, and fever
h. Sjogrens syndrome: occurs in 15%; RA + keratoconjunctivitis sicca, xerostomia

 Diagnostic testing
1. X-ray
2. MRI- greatest sensitivity to detect synovitis and marrow changes
3. Ultrasound- detects early soft tissue lesions
4. Blood tests

 Diagnosis
1. Lab test
a. Rheumatoid Factor: Rose Waller test, present in most RA patients (80 % of affected pts);
associated w/ increased morbidity. 5% normal pts also +ve. False +ve in- SLE,
sarcoidosis, TB, syphilis, chronic liver disease
b. Anti CCP antibody (anti-cyclic citrullinated peptide antibodies): more specific ( 95%) than
RA factor
c. Synovial Fluid Analysis: joint fluid in RA is sterile & has pleocytosis (usually PMN), incr
protein, & decreased viscosity & decreased complement
d. ESR: active RA – elevated; good indicator of response to medical therapy and the activity
of the disease
e. C Reactive Protein
f. Normocytic normochromic anaemia
o Other lab abnormalities
o Elevated APRs( ESR, CRP )
o Thrombocytosis
o Leukocytosis
o Inflammatory synovial fluid
o Hypoalbuminemia
2. X-ray
a. Early changes are limited to the soft tissues w/ fusiform swelling and joint effusion
b. Juxta-articular osteoporosis
c. Cartilage destruction produces narrowing of the joint
d. Erosion of bone occurs characteristically in the metaphyseal region underlying collateral
ligament attachment
e. Mal-alignment, displacement, and ankylosis of the joint mark end-stage
o Other radiographic features
o Peri-articular osteopenia
o Uniform symmetric joint space narrowing
 o Marginal subchondral erosions
o Joint Subluxations
o Joint destruction
o Collapse

 Differential diagnosis
a. Crystal induced arthritis (gout, and pseudogout)
b. Osteoarthritis
c. Systemic lupus erythematosus (SLE)
d. One of the several types of psoriatic arthritis resembles RA
e. Lyme disease
f. Reactive arthritis (previously Reiters disease)
g. Ankylosing spondylitis
h. Hepatitis C
i. Sarcoidosis
j. Amyloidosis,
k. Whipples disease
l. Hemochromatosis
m. Acute rheumatic fever
n. Gonococcal arthritis

 Criteria for classification of RA

a. 1987 criteria for classification of RA (4 criterias must be met)
1. Morning stiffness of more than 1 hour most mornings for at least 6 weeks
2. Arthritis and soft-tissue swelling of more than 3 of 14 joints, present for at least 6
weeks
3. Arthritis of the hand joints, present for at least 6 weeks
4. Symmetric arthritis, present for at least 6 weeks
5. Subcutaneous nodules in specific places
6. Rheumatoid Factor at a level above the 95th percentile
7. Radiological changes suggestive of joint erosion

b. 2010 criteria (Patients with a score ≥ 6 are considered to have definite RA)
Criterion Score
A. Joints affected
1 large joint 0
2-10 large joints 1
1-3 small joints 2
4-10 small joints 3
4-10 small joints 5
B. Serology
Negative RF and ACPA 0
Low positive RF or ACPA 2
High positive RF or ACPA 3
C. Duration of symptoms
< 6 weeks 0
>6 weeks 1
D. Acute phase reactants
Normal CPR and ESR 0
Abnormal CPR or ESR 1
 Treatment
 Goal of Treatment
- To alleviate the current symptoms and to prevent future destruction of the joints
resulting in handicap
a. Cortisone Therapy
 Cortisone, a steroid hormone, can be valuable to a long term treatment plan
b. Anti-inflammatory Agents
 Non-Steroidal Anti-Inflammatory Drugs- Aspirin, Ibuprofen, Naproxen
 Acetaminophen- Tylenol
 Opiates- Any of the narcotic alkaloids found in the opium poppy
 Diproqualone- A Sedative
 Lidocaine Topical- A local anesthetic
c. Surgery
 - Synovectomy of the wrist or finger tendon sheaths of the hands may be required for
pain relief or to prevent tendon rupture when medical interventions have failed

 Other therapies
- Weight Loss
- Occupational Therapy
- Podiatry: The study of the foot, ankle, and leg
- Physiotherapy
- Immunoadsorption Therapy: A drug that has effect on the immune system
- Radon Therapy: A radioactive water bath
- Acupuncture: A technique of inserting fine needles into specific points of the body to
relieve pain
 Prognosis
- Disability: Daily living activities are impaired. After 5 years of disease, approximately
33% of sufferers can no longer work. After 10 years of disease, approximately 50% of
sufferers have substantial functional disability.
- Some people have mild or short-term symptoms, but in most cases, the disease is
progressive for life.
- The life shortening effect of RA varies. Most sources cite a lifespan reduction of 5 to 10
years.