connective tissue disorders rheumatic disease .ppt

this is overview of connective tissue disorders about rheumatic childhood and management that includes pathogenesis clinical presentation investigation and management

2. Result from autoimmune processes that lead
to inflammation of target organs
Essential to exclude non rheumatic diseases
causing similar symptoms, since no specific
diagnostic test
Specific diagnostic manifestations may take
months or even years to develop after the
initial presentation so early diagnosis not
always possible

3. Characterized by autoimmune responses
The property of tolerance to self of immune
system is lost in rheumatic diseases
Two possible explanations, which are not
mutually exclusive, for self-reactivity are
◦(1) similarity between foreign and self molecules that
are recognized by immune cells
◦(2) viral or other infections that incite, exaggerate, or
prolong otherwise self-limited immune responses
and
◦Certain genetic factors, such as specific HLA alleles,
may influence susceptibility to developing disease

4. Is a common, rheumatic disease of children
and a major cause of chronic disability
It is characterized by a synovitis of the
peripheral joints manifesting in soft tissue
swelling and effusion
The incidence of JRA is ≈13.9/100,000
children/yr among white children ≤15 yr of
age, with a prevalence of ≈113/100,000
children

5. Age at onset: <16 yr
Arthritis in one or more of the joints
Duration of disease: ≥ 6 wk
Onset type defined by type of articular
involvement in the 1st 6 mo after onset:
•Polyarthritis: ≥5 inflamed joints
•Oligoarthritis: ≤4 inflamed joints
Systemic disease: arthritis with a
characteristic intermittent fever
Exclusion of other forms of juvenile arthritis

6. Unknown
At least two necessary events are postulated:
Immunogenetic susceptibility
External (environmental) Triggers includes
◦Viruses (parvovirus B19, rubella, Epstein-Barr virus)
◦Host hyperreactivity to specific self antigens
◦Enhanced T-cell reactivity to bacterial or mycobacterial
heat shock proteins
•Specific HLA subtypes confer varying degrees of
susceptibility, or indeed protection

7. Synovitis of JRA is characterized by villous
hypertrophy, hyperplasia with hyperemia and
edema and infiltrates of plasma cell and
mononuclear cells
Pannus formation-inflammatory exudate over
the synovial lining, occurs in advanced
uncontrolled disease and results in
progressive erosion of articular cartilage and
contiguous bone

8. Initial symptoms may include
◦Morning stiffness and gelling
◦Joint pain later in the day
◦Joint swelling
The involved joints are often
◦Warm
◦Resist full range of motion
◦Painful on motion
◦Not usually erythematous

9. Oligoarthritis (pauciarticular disease)
◦Accounts 50% of cases of JRA
◦Predominantly affects the joints of the lower
extremities, such as the knees and ankles
◦Often, only a single joint is involved at onset
◦Involvement of the hip is almost never a presenting
sign of JRA can occur in late stage

10. Polyarthritis (polyarticular disease)
◦characterized by involvement of both large and
small joints
◦As many as 20–40 joints may be affected in the
more severely involved child
◦resemble the characteristic presentation of adult
rheumatoid arthritis

11. Rheumatoid nodules on the extensor surfaces
of the elbows and over the Achilles tendons,
while unusual, are associated with a more
severe course
Micrognathia reflect temporomandibular jt
involvment
Involvement of cervical spine is frequent

12. Systemic-onset disease
◦is characterized by arthritis and prominent extra-
athricular manifestations particularly high grade
fever, rheumatoid rash, HSM, LAP and serositis
◦The skin rash is characteristically faint,
erythematous, macular rash most commonly over
the trunk and proximal extremities & non pruritic
associated with the fever

13. ◦WBC count, ESR and platelate count are often
elivated
◦Anemia is often present
◦Rheumatoid factor positive 5% of cases
◦ANA positive in 40-85% of case
Radiology
Early soft tissue swelling, periostitis, osteoporesis
Late narrowing of cartilagenous space
bone distruction and fusion

14. Elevated ANA 40–85% of children with
oligoarticular or polyarticular JRA, but are
unusual in systemic-onset disease
ANA seropositivity is associated with
increased risk for the development of chronic
uveitis in a child with oligoarticular JRA

15. Rheumatoid-factor (RF) seropositivity may be
associated with onset of polyarticular
involvement in an older child (≈8%)

16. Non steroidal anti-inflammatory drugs
ASA 100mg/kg/24 hr especially for
oligoarthricular JRA
Additional anti-inflammatory drugs need to
be added for severe forms
corticosteroid
methortexate

17. Glucocorticoids indication
◦management of overwhelming inflammatory or
systemic illness
◦ocular control of uveitis
◦intra-articular use in persistent limited joint disease
Methotrexate
◦safest, most efficacious, and least toxic of the
currently available second-line agents for initial
adjunctive therapy with an NSAID

18. Periodic slit-lamp ophthalmologic
examination
Dietary evaluation and counseling to ensure
appropriate calcium, vitamin D, protein, and
caloric intake
Physical and occupational therapy

19. Oligoarthrticular JRA girls with onset of
arthritis at an age of <6 yr, are at risk to
develop chronic uveitis
Polyarticular JRA functional risk is associated
with
◦Older age of onset
◦RF seropositivity or rheumatoid nodules
◦The early development of erosions or disease of the
cervical spine or hips

20. The child with systemic-onset disease
◦Prognosis is dependent on the number of joints
involved oligoarthricular-good px
polyarthricular -poor px

21. Chronic inflammatory multisystem disease of
unknown cause
It is characterized by auto antibodies directed
against self antigen and results in inflammatory
damage to target organs

22. Is unknown
Triggering factors of immune dysregulation
include genetic, hormones, and environment
The hallmark of lupus is autoantibody
production against many self antigens
Genetic predisposition to lupus is suggested by
the high frequency (≈10%) in family members

23. Certain HLA types occur with increased
frequency among patients with lupus
Congenital complement deficiencies also
predispose to SLE

24. The incidence of lupus is not known but
varies by location and ethnicity
Disease onset before 8 yr of age is unusual
Female predominance varies from 4 : 1
before puberty to 8 : 1 afterward

25. May begin insidiously or acutely
Most frequent symptoms include
◦fever,
◦fatigue,
◦hematologic abnormalities,
◦arthralgia or arthritis,
◦rash, and renal disease
Symptoms may be persistent or remitting

26. Cutaneous manifestations are frequently
present
◦Malar or butterfly rash involves the cheeks and
nasal bridge
◦Discoid lesions are unusual in childhood
◦Raynaud phenomenon
Mucousal ulcers occur particularly on palatal
and nasal mucosa

27. is characterized by a pale to blue to red sequence of color
changes of the digits, most commonly after exposure to cold.
Raynaud's phenomenon occurs because of spasm of blood
vessels.
The cause of Raynaud's phenomenon is unknown, although
abnormal nerve control of blood-vessel diameter and nerve
sensitivity to cold are suspected of being involved.
Symptoms of Raynaud's phenomenon depend on the severity,
frequency, and duration of the blood-vessel spasm.
There is no blood test for diagnosing Raynaud's phenomenon.
Treatment of Raynaud's phenomenon involves protection of the
digits, medications, and avoiding emotional stresses,smoking,
cold temperature,

28. Serositis involves pleural, pericardial, and
peritoneal surfaces
Hepatosplenomegaly and lymphadenopathy
are often found
Cardiac may affect all cardiac tissues
Pulmonary manifestations include
◦acute pulmonary hemorrhage,
◦pulmonary infiltrates, and
◦chronic fibrosis

29. Musculoskeletal
◦arthralgia, arthritis, tendinitis, and myositis
◦Deforming arthritis is unusual
Renal disease
◦Hypertension, glomerulonephritis, nephrotic
syndrome, acute renal failure
Neurologic
◦Involve both peripheral and central nervous system
◦Neuropsychiatric manifestations

30. 1)Malar rash
2)Discoid rash
3)Photosensitivity
4)Oral ulcers
5)Arthritis
6)Serositis
7)Renal disorder –persistent proteinuria or
cellular casts
8)Neurologic disorder –seizure or psychosis

31. 9.Hematologic –hemolytic anemia, leukopenia,
lymphopenia or thrombocytopenia
10. Immunologic disorder
◦anti DNA antibodies
◦Positive antiphospholipid antibodies
◦False positive VDRL
11. Antinuclear antibodies

32. The diagnosis is made if 4 or more of
the above criteria are present
Lab findings
◦Elivated titers of ANA(antinuclear antibody)
◦Depressed levels of serum complement
level
◦Anemia, thrombocytopenia and leukopenia
◦Urine analysis hematuria, protienuria,
casts

33. Depends on the affected target organs and
disease severity
Minimize sun exposure and use sunscreen
Nonsteroidal anti-inflammatory agents,
◦used to treat arthralgia and arthritis

34. Corticosteroids control symptoms and
autoantibody production
◦Patients with systemic disease started on
oral prednisone 1–2 mg/kg/24 hr of in
divided doses
◦Tapering is started when complement level
increase to normal

35. Cytotoxic therapy indicated forpatients with
severe disease
◦Cyclophosphamide
◦Azathioprine

36. Natural course of untreated lupus may be
spontaneous remission, years of smoldering
disease, or rapid death
5-yr survival rate is >90%
Causes of death
◦infection
◦nephritis
◦central nervous system disease
◦pulmonary hemorrhage, and
◦myocardial infarction

37. Clinical evidence of renal disease occurs in
30–70% of children
In mild forms of lupus nephritis (all class II,
some class III) Sxs include hematuria, normal
renal function, and proteinuria of <1 g/24 hr
Some patients with class III and all patients
with class IV nephritis have hematuria and
proteinuria, reduced renal function, nephrotic
syndrome, or acute renal failure

38. Class I-is minimal mesangial change without
proteinuria or hematuria
Class II -mesangial proliferation
Class III-(focal proliferative glomerulonephritis)
shows involvement of <50% of total glomeruli
Class IV-(diffuse segmental or global
proliferative glomerulonephritis) exhibits more
than50% of glomeruli

39. Class V disease-membranous
glomerulonephritis
Class VI -advanced sclerosing nephritis.90%
of glomeruli globally slerosed without
residual activity