8/17/2019 Rheumatic and Autoimmune Diseases http://slidepdf.com/reader/full/rheumatic-and-autoimmune-diseases 1/16 Rheumatic and Autoimmune Diseases Autoimmune disorders can be categorized broadly into either systemic or organ-directed diseases. The dominant clinical feature of organ-specic autoimmune diseases is chronic inammation, generally localized in a single organ specic for each individual disease. Within this group of autoimmune disorders, familial clustering diseases occur with remarable fre!uency. The relevant autoantibodies may or may not be species-specic but they do e"hibit specicity for an antigen present in the diseased organ or tissue. #heumatic diseases are characterized by the presence of one or more autoantibodies that may be directed against components of the surface, cytoplasm, nuclear envelope, or nucleus of the cell. The last group, autoantibodies to nuclear antigens $A%As&, is a hallmar of systemic rheumatic diseases. There are several types of detection method. 'ne of it is (irect )mmunouorescence *icroscopy $()+*&, which is the laboratory method
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localized scarring pemphigoid, also nown as cicatricial pemphigoid of
2runsting-1erry, is a variant of benign mucous membrane pemphigoid that is
localized to the head and nec region.
>estational 1emphigoid $3erpes gestationis& develops during or soon
after pregnancy. /esions are typically pruritic and located predominantly onthe abdomen and e"tremities. With ()+*, one typically nds linear < 2*5
deposits.
pidermolysis bullossa ac!uisita and bullous lupus erythematosus are
ac!uired subepidermal blistering diseases characterized by the presence of
autoantibodies to type 4)) collagen in 2*5 protein. All patients are aEicted
with a combination of blisters, erosions, scars, milia, and dyspigmentation of
sin, most often located on trauma-susceptible e"tensor sin surfaces such
as nees, elbows and dorsa of hands and feet. Fsing ()+*, patients with
epidermolysis bullosa ac!uisita and bullous lupus erythematosus have linear2*5 immunoreactants that most commonly consist of )g> and <.
(ermatitis 3erpetiformis is a severely pruritic subepidermal bullous
disease associated with gluten-sensitive enteropathy. )t is also associated
with 3/A-2D, (#< histocompatibility types. ()+* detects granular )gA in the
tips of dermal papillae in appro"imately D:-@:: of dermatitis herpetiformis
patients.
/inear )gA dermatosis is an uncommon ac!uired subepidermal
blistering disorder that is now considered a distinct clinical entity rather thanbeing a variant of dermatitis herpetiformis as was once thought. hronic
bullous dermatosis of childhood is similar to linear )gA dermatosis, both
clinically and immunopathologically.
/upus rythematosus is a disorder characterized serologically by the
presence of multiple autoantibodies, including antinuclear antibodies, anti-
native-(%A, antihistones, and anti-0m. With ()+*, one sees characteristic
course granular, continuous deposits of immunoglobulins and complement
along the epidermal 2*5 in B:-GB of 0/ patients.
4asculitis in the sin has a number of synonyms, including
leuocytoclastic vasculitis, allergic vasculitis and hypersensitivity
angiitis=vasculitis. 3istologically, small blood vessels of the dermis show
antiparietal cell $A1& autoantibodies in G: of patients and to intrinsic
factor.
>luten-0ensitive nteropathy or celiac sprue, is a small bowel disease
characterized by malabsorption of gastrointestinal fat. )t is considered as a
rare disease in the Fnited 0tates. 1atients might have nongastrointestinalmanifestations that dominate the clinical presentation, such as anemia,
neurological symptoms and autoimmune diseases. 3ypersensitivity to gluten
or gluten derivatives is the cause of >0.
Flcerative colitis and rohns disease are two of the most common
disorders within the group of idiopathic inammatory bowel diseases.
*a6or of the adult patients with ulcerative colitis have detectable p-
A%A that is sensitive to (%ase, which helps di8erentiate p-A%A in
inammatory disease.
%. &ervous system
*yasthenia gravis is a neuromuscular disorder characterized by use-
associated muscular weaness fatigue and the presence of antiacetylcholine
receptor autoantibodies. Ah#s, located in postsynaptic membranes of
seletal muscle bers, bind acetylcholine $Ach& from nerve endings, which
causes a muscle contraction when enough Ach has been released. Anti-Ah#
autoantibodies interfere with this neuromuscular function, resulting in
muscle weaness and fatigue.
*ultiple sclerosis is a relatively common demyelinating disease
involving the white matter of the brain and spinal cord. ause of it is still
unnown. "amination of 0+ does provide important information that
supports a diagnosis of multiple sclerosis in an appropriate clinical setting.
Systemic Rheumatoid diseases
#heumatic diseases are conditions characterized by the presence of auto antibodies directed against di8erent cellular components such as cellsurfaces, cytoplasm, and nuclear elements. The auto antibodies are notdirected to a specic organ.
>. #heumatoid arthritis $#A&3. (ermatomyositis and polymyositis
A. Systemic Lupus rythematosus 'SL(
0ystemic lupus erythematosus is a chronic inammatorymultiorgan disorder. The four etiological factors are endocrine-metabolic, environmental, genetic and viral. )t is characterized by anerythematous rash on the face when e"posed to sunlight anddeposition of immune comple"es in the idney that causesglomerulonephritis. 0creening test for antinuclear antibodies $this are
neutrophils that engulfed another antibody coated nucleus of anotherneutrophil& is the rst step in identifying the disease. +lorescentantinuclear antibody testing is the most accepted test for diagnosis.
Autoantibodies detected are not always specic to 0/. Anti-ds-(%A is specic to 0/ while Anti-ss-(%A, anti-histone, anti-00-A-#o,anti-00-2-/a are not specic to 0/. Anti-0m is diagnostic for 0/. The
table below shows the di8erent antigens and antibodies of 0/.
)t is a chronic sin disease characterized by red lesions on thechees and bridge of the nose that occurs primarily in women ages C:-9:. The sin lesions are the sin lesions of (/ are persistentlocalized erythema, adherent scales, follicular plugging, telangiectasis,
and atrophy,
C. Lupus !ike diseases
This are diseases that share similar clinical features with 0/ buthave di8erent etiologic agents and pathogeneses. this includes7vasculitis, cryoglobulinemia, relapsing polychondritis,lymphoproliferative diseases, rheumatic fever, glomerulonephritis,
syphilis, lupoid hepatitis,
drug-induced lupus, and occult malignancy.
D. Drug)induced !upus erythematosus
)t is characterized by the presence of histone antibodies. Anti-00-(%A could also be present and antichromatin gives the highestspecicity in detection of ()/. ()/ may develop on chonic use of certain drugs such as7 procainamide, hydralazine, )%3, phenytoin,mesantoin, d-penicillamine and ergot compounds. 0ymptoms mayinclude 6oint pain, pericarditis, and pleuritis.
. S*ogren+s syndrome
)t is a chronic progressive inammatory autoimmune disease inwhich the immune system attacs moisture producing glands such asthe tear and salivary glands that could cause severe dryness of eyesand mouth. 00 is classied into primary 00, which is not associatedwith other connective tissue disorder, and secondary 00, in which other
Anti-00-A-#o and anti-00-2-/a are normally restricted to 00 butsometimes present in 0/ patients.
". Sc!eroderma,CRST syndrome
)t is a multisystem connective tissue disorder with unnownetiology characterized primarily by vascular lesions and tissue brosis. There are @@ possible auto antibodies that could be present in patientwith scleroderma, 0cl-J: being the most fre!uent auto antibody and%'#-G: being the rarest. The auto antibodies present in scleroderma
could also be present in #0T syndrome $calcinosis cutis, #aynaudLsphenomenon, esophageal dysmotility, sclerodactyly, andtelangiectasia& but anti-centromere antibody has the highest fre!uencyin #0T syndrome. The table below shows autoantigens andautoantibodies of scleroderma and #0T syndrome.
#A is a systemic autoimmune disorder characterized by chronic,
symmetric, and erosive arthritis of the peripheral 6oints, necroticareas are surrounded by granulation of tissue that eventually leads todisintegration of the 6oint. )ts etiologic factors are unnown. #A couldbe associated with other disease lie subcutaneous nodules, vasculitis,interstitial brosis, and anemia. The two most common diseaseassociated with #A are 06ogrenLs and +eltyLs syndromes. The mainimmunologic nding is the presence of #heumatoid factor $a @G0antibody against )g>&.
%. Dermatomyositis and po!ymyositis
1olymyositis is an inammatory disorder in which seletal muscletissue becomes inamed and deteriorates, causing weaness and pain.)t has unnown etiologic factors. When the disease has anaccompanying sin rash it is called dermatomyositis. 1resent autoantibodies targets transfer #%A synthetases, they are measuredserologically.
'verlap syndrome is a term used when patients e"hibit symptoms of more than one disease$1ope, C::C&. +or e"ample, patients who meet thediagnostic criteria for 0/ and also have typical manifestations suggestive of a
second diagnosis, such as #A, have been described$/azaro, @GDG&. )t is uncertain whether overlap syndromes may represent thecoe"istence of two or more di8erent diseases, or whether the syndrome is adistinct entity.
The concept of *T( was initially proposed by 0harp and colleagues in@GJC. The C: patients described in the initial report had a combination of features usually associated with 0/, systemic sclerosis, and polymyositis.
B.RA and SL 'Rupus(
)ts concept is when a patient who has 0/ develop rheumatoidarthritis-lie syndromes.
C. /egener+s granu!omatosis
)ts respective antigen is the >olgi Apparatus and the ytoplasmicpattern in the ))+ is >ranular poleMperinuclear, arrow-shaped, coarse,granular, corresponding tothe lamellar stacsof the >olgi comple" $3p-C&
D.#o!yarteritis nodosa and Churg0Strausssyndrome
)t is a condition associated with *onoclonal )mmunoglobulins.1olyarteritis nodosa is a rare autoimmune disease $immune system attacingits own body& featuring spontaneous inammation of the arteries $arteritis&.2ecause arteries are involved, the disease can a8ect any organ of the body. The most common areas of involvement include the muscles, 6oints,intestines $bowels&, nerves, idneys, and sin. 1oor function or pain in any of
these organs can be a symptom. Typically, one nds normochromic anemia,neutrophilic leuocytosis, hypoalbuminemia, hypergammaglobulinemia, anda maredly elevated 0#. *easurement of serum creatinine and blood ureanitrogen $2F%&, together with urinalysis to chec for proteinuria, hematuria,and abnormal sediment, are important for evaluating renal function. Thepositive A%A or #+ found in @:-9: of these patients may be associated withdecreased levels of complement components < and 9. 0erologic tests forhepatitis 2, hepatitis , and 3)4 should be obtained in all patients withpolyarteritis nodosa. 0eletal muscle biopsy reveals circumferential panmuralnecrotizing arteritis of a small muscular artery with mi"ed cell inammation,brinoid necrosis, and proliferative endarteritis.
hurgM0trauss syndrome, also called allergic angiitis andgranulomatosis, is a systemicnecrotizing vasculitis characterized by vascular and e"travasculargranulomatous inammation,multiple organ involvement, and associations with allergic rhinitis, severeasthma, fever, and
The clinical course of hurgM0trauss syndrome is often divided intothree distinct phases,although in reality these three phases are not always identiable or may
overlap $/angford,@GGB, C::< N9CO N<GO&7 $@& a prodromal phase characterized by allergicrespiratory disease, $C&an eosinophilic phase characterized by peripheral blood and tissuehypereosinophilia, and $<&a vasculitic phase. ardiac involvement, either transmural eosinophiliccarditis or coronaryvasculitis, occurs in CB-;C of patients and is the ma6or cause of death.
A hallmar of hurgM0trauss syndrome is striing peripheral bloodeosinophilia, which may be seen at any phase of the disease. The peripheral
blood eosinophil count reaches @:::eosinophils per P/ in D: or more of patients. 'ther laboratory ndings arenonspecic. Anemia, leuocytosis, and increased 0# fre!uently accompanythe vasculitic phase. 0erum )g levels may be elevated. 0erum #+ may beidentied but the titer is usually low.
.Leukocytoc!astic vascu!itis
/euocytoclastic vasculitis $/4&, also nown as hypersensitivityvasculitis and hypersensitivity angiitis, is a histopathologic term commonly
used to denote a small-vessel vasculitis. /euocytoclastic vasculitis may belocalized to the sin or may manifest in other organs. The internal organsa8ected most commonly include the 6oints, the gastrointestinal tract, and theidneys.
". #oor!y defned connective tissue disease
syndromes
The term Qundi8erentiated connective tissue diseaseQ $FT(& is used
to describe people who have symptoms and certain lab test results that loo
lie a systemic autoimmune disorder or connective tissue disease. 2ut theydonLt have enough of such characteristics to meet the diagnosis for a well-
dened connective tissue disease, such as rheumatoid arthritis, lupus, or
scleroderma. Thus, they seem to have another, similar disorder that doctors