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Dr. Nur Hidayat, Sp.

PD

Definisi
Penyakit autoimun yang ditandai dengan fibrosis

pembuluh darah kecil yang luas, merupakan akibat


sekunder produksi kolagen dan protein matriks ekstra
seluler yang berlebihan.

Patologi
Vaskulopati dan fibrosis pembuluh darah kecil yang

luas akibat aktivasi sistem imun dan autoimunitas


Vaskulopati mengenai arteri kecil, arteriol dan kapiler
menimbulkan iskemia dan episode berulang ischemiareperfusi
Hipersensitif pada reseptor adrenergik alfa 2 sel otot
polos pembuluh darah, perubahan struktural
(proliferasi dan obliterasi), dan kegagalan mengganti
sel yang rusak

Hipersensitivitas terhadap stimulus konstriksi (seperti

dingin dan stress) menimbulkan fenomena Raynauds


Kerusakan endotelium akan mengaktivasi patelat dan
trombosis, mengakibatkan penyempitan lumen,
vasokonstriksi dan pembentukan fibroblas.
Fibrosis diakibatkan oleh meningkatnya produksi
kolagen, fibronektin, dan glikosaminoglikan.

Manifestasi Klinis
1. Diffuse cutaneous SS
2. Limited cutneous SS
3. Overlap syndrome SS
4. Undefined connective tissue disease
5. Localized Scleroderma
1. Morphea
2. Linear

Gejala dan Tanda


1. Raynauds phenomenon (vasospasm of arteries
in hands in response to cold or emotional
stress, resulting in discoloration of hands)
2.
3.
4.
5.
6.
7.
8.

Thickened, tight skin


Nailfold capillariesgiant loops formed by
abnormal capillaries at nailfold
Dysphagia due to esophageal fibrosis
Renal artery fibrosis
Pulmonary hypertension
Telangiectasias
Cardiac conduction disease/pericardial effusion

CREST
Calcinosis (calcium deposition forming

nodules)
Raynauds phenomenon
Esophageal dysmotility
Sclerodactyly (stiffness of skin of
fingers)
Telangiectasis

Pasien dengan SSc terbatas


(limited), umumnya terjadi

fenomena Raynauds 1-10 tahun,


baru muncul manifestasi klinis yang
lain. 10 year survival rate > 70%
Sclerosis sistemik difus, onset
fenomena raynauds dan kerusakan
organ sistemik lebih singkat. 10-year
survival rate 40-60%

Fenomena Raynauds
Keluhan berupa rasa dingin di tangan atau

kaki disertai dengan perubahan warna kulit


jari
Gejala timbul tiba-tiba dipicu oleh suhu
dingin atau stress emosi- kulit menjadi
pucat dan sianosis.
Pemulihan dari fase vasospastik tersebur
(rewarming), terjadi 10-15 menit setelah
stimulus hilang.
Populasi umum usia 15-25 tahun 4-15%
mengalami fenomena Raynauds

Pada pasien SSc 90% mengalami


fenomena Raynauds, disertai

fibrosis jaringan di jari, hilangnya


bantalan jari (scerodactyly), ulkus,
serta iskemik yang memerlukan
amputasi.

Kelainan kulit
Pada fase awal : radang ringan dengan

edema nonpitting, pada beberapa kasus


disertai eritema.
Bengkak dan pruritus terjadi akibat infiltrasi
limfosit, aktifasi fibroblas dan sel mast, dan
pelepasan sitokin lokal di kulit.
Pasien merasakan kulitnya bertambah ketat
dan kelenturan berkurang

Pada SSc difus, kerusakan kulit meluas

dengan variasi hipo-hiperpigmentasi


kecoklatan atau abu-abu
Pada stadium fibrotik, kulit menjadi lebih
tebal dan kering memicu timbulnya
pruritus.
Fase akhir terjadi penipisan kulit dan atropi,
serta ulkus.

ANA positive in 95%


Anti SCl-70 (topoisomerase antibody)

Antibody to centromerespecific to CREST

variant
Antibody to nucleolar Ag
Normochromic, normocytic anemia
Elevated ESR
Decreased vital capacity on pulmonary
function tests (restrictive lung disease)

Terapi
Disease-Modifying Interventions

Penicillamine
Chlorambucil
Ketanserin
Interferon (IFN)

Terapi
Simptomatik

Kulit
Moisturizers
Antihistamin oral
Analgesik topikal
Kortikosteroid topikal
Salep antibiotika
Colchicine

Terapi
Fenomena Raynauds

Hindari paparan dingin, stress dan


merokok
Vasodilator (Nifedipin, prazozin,
nitrogliserin topikal)
Prostaglandin intravena
Pembedahan
Amputasi

Sarcoidosis

A systemic illness with no known

cause, primarily affecting the lungs


Characterized by noncaseating
granulomas
More common among blacks and
women

Patogenesis
Immune respons clearly plays a central role in

pathogenesis
Characterized by disseminated noncaseating
granulomas
The sarcoid granuloma contains : central follicle of
tightly packed epithelioid cells and multinucleated
giant cells surrounded by lymphocytes, macrophages,
monocytes and fibroblast.

SIGNS AND SYMPTOMS


Skinerythema nodosum (erythematous nodes on
extensor surfaces of lower extremities, also seen in
other conditions)
Kidneyhypercalciuria (macrophages increase
metabolism of vitamin D to 1,25-dihydroxyvitamin D)
Eyesuveitis (inflammation of uveal tract, iris, ciliary

body, choroid)
Cardiacconduction defects
NervousBells palsy (self-limited 7th nerve palsy of
unknown etiology)
Lofgrens syndrometriad of erythema nodosa,
arthritis, and bilateral hilar lymphadenopathy (good
prognosis)

Staging
I. Bilateral hilar adenopathy
II. Hilar adenopathy plus lung

parenchymal involvement
III. Lung parenchymal involvement
alone
IV. Pulmonary fibrosis

Requires transbronchial biopsy to


prove existence of noncaseating

granulomas, but not sufficient on


its own to make diagnosis; requires
clinical, laboratory, and
radiographic adjuncts

Laboratorium
Eosinophilia
False positive RF and ANA
Elevated angiotensin-converting

enzyme (ACE)
Skin anergy to common antigens
Elevated 24-hour urine calcium
Chest x-ray shows bilateral hilar
adenopathy and perihilar
calcifications)
Elevated ESR

TREATMENT

Corticosteroids
PROGNOSIS

Most patients have resolution of


their disease within 2 years. Death
from pulmonary
failure occurs in a minority of
patients.

Dermatomyositis-Polymyositis
Connective tissue disease causing proximal

muscle weakness.
Associated with HLA-DR3
Dermatomyositis has similar
manifestations to polymyositis plus skin
involvement.
Etiologi
Unknown; many viruses implicated
(coxsackie, influenza)

Symptoms and Signs


Weakness first occurring in legs
Difficulty with squatting, kneeling, rising

from chair, climbing stairs


Dysphagia
Abnormal ECG (with advanced disease)
With dermatomyositis: Purple-red
papular/scaly photosensitive rash on face,
neck (V sign, shawl sign); erythema,
scaling on extensor surfaces of joints
(Gottrons papules; very specific); periorbital
edema, heliotropic rash

Heliotrop

Diagnosis
Four criteria:

1. Muscle weakness
2. Increased creatine phosphokinase
(CPK)/aldolase
3. Muscle biopsy showing T-cell infiltrate
with myonecrosis
4. EMG shows myopathy: Decreased
amplitude, increased spike amplitude

Laboratorium
Positive antinuclear antibody (ANA)
Elevated CPK, LDH, AST, aldolase
ESR is elevated in only ~50% of cases.

One-third have myositis-specific antibodies (see

below).
CXR may show interstitial pulmonary disease.

MYOSITIS-SPECIFIC ANTIBODIES

Anti-Jo: One third with pure myositis


Anti-Mi2: Dermatomyositis specific
Anti-PM1

TREATMENT
Glucocorticoids (for poly or dermato): 80% respond
within 6 weeks
If poor response to glucocorticoids, high suspicion of
malignancy
Methotrexate, azathioprine if steroid resistant
PROGNOSIS
Approximately 15% have malignancy, especially with
dermatomyositis.
Insidious, progressive disease

SLE
A chronic inflammatory disease that can affect

virtually every organ


system, including kidney, skin, joints, lungs, CNS
Classified as an autoimmune disorder with
elaboration of characteristic
autoantibodies
Can present with overlapping rheumatologic
syndromes (though 90%
have skin and joint involvement)
Associated with HLA-DR2 and HLA-DR3

Diagnosis

1. Malar rash: Butterfly distribution; spares nasolabial folds


2. Discoid rash: Raised erythematous patches; scaling; may

scar
3. Photosensitivity
4. Oral ulcers: Usually painless
5. Symmetric arthritis: 2 joints
6. Serositis: Pleuritis/pericarditis
7. Renal disorder: Multiple types
8. Neurologic disorder: Seizures, psychosis, lupus
cerebritis
9. Hematologic disorder: Any cell line can be affected.
10. Immunologic disorder: Autoantibodies, false-positive
syphilis tests
(RPR, VDRL)
11. Antinuclear antibody (ANA)

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