Sjögren’s syndrome (SS). Defin ition : Autoimmun e inflammation of the exocrine (lacrimal, salivary, etc) glands resulting in decreased production of tears and saliva (xerophthalmia és xerostomia) .
Definition: Autoimmune inflammation of the exocrine (lacrimal,salivary, etc) glands resulting in decreased production of tears and saliva (xerophthalmia és xerostomia).
Primary and secondary forms (the latter accompanies otherautoimmun diseases (e.g.: RA, SLE, etc).
Epidemiology:One of the most frequent autoimmune diseases;
estimated incidence: 1-10/1000, prevalence: 1%. Male: female
ratio cca 1:9.
Pathogenesis:Lymphoid infliltration of exocrine glands
(infiltrating lymphocytesare mostly CD4+ ab T cells); with
concomitant inflammation and slow destruction.
Histology of salivary gland in Sjögren’s syndrome
Keratoconjunctivitis sicca (rose bengal test) in SS
in Sjögren’s syndromeVasculitis (purpura) in Sjögren’s syndrome
Diagnostic criteria of SS (ECSG, 1993)
1. Ocular symptoms (at least one the following):
a/ symptomatic dry eyes for at least 3 months
b/ repeated sensation of foreign bodies in the eyes
c/ artificial tears are required at least 3 times a day
2. Mouth symptoms (at least one of the following):
a/ symptomatic dry mouth for at least 3 months
b/ recurrent salivary gland enlargement
c/ requirement of frequent drinking while swallowing dry food
3. Positive Schirmer’s test ( 5mm/5min) (or positive rose bengal test)
4. Positive salivary gland (lower lip) biopsy. In histology at least 1 lymphoid
follicle ( 50 cells) / 4 mm2 tissue)
5. Salivary gland involvement (at least one of the following):
a/ positive scintigraphy
b/ positive parotid sialography
c/ unstimulated salivary flow ( 1.5 ml/15 min)
6. Autoantibodies (at least one of the following):
a/ SS-A (Ro) or SS-B (La) antibody
b/ antinuclear antibody (ANA)
c/ rheumatoid factor (RF)
Definite diagnosis requires at least 4 criteria. In the absence of other
(systemic) autoimmune disease, the diagnosis is primary SS.
Nailfold capillaries in scleroderma
Teleangiectasia in scleroderma
Centromere antibodies in acrosclerosis
Nucleolar antibodies in scleroderma
fibrosis in PSS
EOSINOPHILIC FASCIITIS: (Shulman’s syndrome)
diffuse fasciitis with eosinophilia)
MIXED CONNESTIVE TISSUE DISEASE (MCTD ) (Sharp’s syndrome):
A mixture of SLE, scleroderma, PM, RA (SS).
Clinical picture: most prominent symptoms are:
„sausage-like" fingers, handsand/or sclerodactyly,
esophagus motility disorder (dysphagia),
myositis (CPK elevation),
pneumonitis, pulmonary fibrosis.
Laboratory: U1-RNP antibodies
"OVERLAP" SYNDROMESAND UCTD
UCTD = in most cases, preceding SLE or scleroderma
Definition:a heterogenic group, characterized by
proximal muscle weakness (involvement of shoulder and pelvic girdle).
I. Adult polymyositis (PM)
II. Adult dermatomyositis (DM)
III. Myositis associated with malignancy
IV. Childhood myositis
V. Myositis associated with systemic autoimmune disease
VI. Other (inclusion body, eosinophilic and localized)
Gottron’s sign in DM
Gottron’s sign in PM
Splinter haemorrhage sign in PM/DM
Heliotrope rash in DM
DM – shawl sign
Lymphocytic infiltration in early PM
Classification criteria of PM/DM (Bohan & Peter, 1975)
1. symmetrical proximal muscular weakness
2. elevated serum enzymes (CPK, LDH, transaminases, aldolase)
3. Characteristic triad by EMG:
a) small amplitude, short polyphasic waves,
b) fibrillation, irritability,
c) spontaneous, bizarre discharges
4. Biopsy (=infiltration, necrosis, degenerative-regenerative signs
5. Heliotrope rash*
* Gottron’s papules or Gottron’s sign are thought to be more specific
Diagnosis:PM = 4criteria; DM =5th criterium + 4other)
Autoantibodies specific for PM/DM
a) anti- ‘synthetase’ antibodies, specific for ‘anti-synthetase
anti-aminoacyl-tRNA synthetase antibodies:
anti-histidyl- (= Jo-1)
anti-alanyl- (= PL-12)
anti-threonyl- (= Pl-7)
anti-glicyl- (= EJ)
b) anti- SRP (signal recognition particle), specific for another
c) other autoantibodies:
anti-Mi-2 (antibody against a 220 kD nuclear protein)
anti-MAS (antibody against a 4S sedimentation RNA)
Definition:Rare destructing inflammatory disorder, frequently in relapsing form, affecting cartilages in many organs.
Pathogenesis:directly pathogenic autoantibodies againsttype II collagen and proteoglycan.
Diagnostic criteria of polychondritis(McAdam et al, 1976)
1. 1. symmetrical auricular chondritis
2. 2. nonerosive, seronegative polyarthritis
3. 3. nasal chondritis
3. 4. eye involvement (conjunctivitis, keratitis, scleritis/episcleritis, uveitis)
5. 5. Upper airway (larynx-, trachea-) chondritis
6. 6. Cochlear and/or vestibular functional impairment (hearing loss, tinnitus, vertigo)
Diagnosis: 3 (or more) criteria present.
Therapy: CS, cyclosporine