Rheumatology summary

Index
1. 2. 3. 4. 5. 6. 7. SLE Scleroderma RA & JRA GOUT Behcets disease Spondyloarthropathy FMF

SLE

 Autoimmune multisystem disease characterized by

Widespread inflammation Production of autoantibodies

Age: peak 15-40 years Sex: more women (10:1) Race :high prevalence in African

Clinical: Fever Anorexia Weight loss Severe fatigue Lymphadenopathy

Drug induced Lupus

Common with Procainamide Hydralazine Neurological, dermatological & renal involvement rare Arthralgia (most common) Malaise, low grade fever Pericarditis, pleural involvement may be seen

ANA positive Histone anti bodies positive DsDNA and Smith anti bodies negative Treatment: Stop medication Short course of steroids

ACR Criteria

Dermatological features
Malar rash: 30-60% an erythematous butterfly rash Over nasal bridge & malar bones Preserve nasolabial folds Photosensitivity: Rash over the sun exposed areas. Face Neck V shaped area of chest Less under the orbit protected areas Severity depending on exposure

Discoid lupus: Erythematous hyper pigmented margins Flat scarred hypo pigmented centers. Seen in
SLE Pure cutaneous lupus

Oral Ulcers
Oral or nasopharyngeal ulceration Usually painless Observed by physician

Erythema of hard, soft palate & tongue Papules, vesicles & petechiae

Arthritis: Non erosive arthritis 2 or more peripheral joints Characterized by Tenderness Swelling Effusion

Serositis: Pleuritis:
Pleuritic pain Pleural rub heard Pleural effusion

Pericarditis:
ECG Pericardial rub Pericardial effusion

Non erosive arthritis Diffuse soft tissue swelling Ulnar deviation Swan neck deformity MCP subluxation

Pulmonary: Pleuritis (30%) Peumonitis PE Pulmonary HTN Pulmonary hemorrhage the most dreadful with 50 % mortality with treatment

CVS: Pericarditis (most common) Endocarditis Aortitis Valvulitis Aortic insufficiency (most common valvular lesion) Antibiotic prophylaxis indicated for
Accelerated atherosclerosis with 10 times higher mortality from MI (age & sex matched)
Dental Surgical procedures

Renal: Persistent proteinuria >0.5 g/day > 3+ Cellular casts Red cell Hemoglobin Granular Tubular Mixed Impaired kidney function Lupus nephritis predict out come (prognosis) Major cause of mortality

Neyrological: Seizures Psychosis In the absence of Offending drugs Known metabolic derangements, e.g. Uremia Ketoacidosis Electrolyte imbalance

Hematological: Hemolytic anemia--with reticulocytosis Or Leukopenia : <4,000/mm total on 2 or more occasions Or Lymphopenia: <1,500/mm on 2 or more occasions Or Thrombocytopenia: <100,000/mm, in the absence of offending drugs

Immunological: 1. +ve DsDNA anti body or Anti smith antibody &/Or 2. An abnormal serum level of IgG or IgM anticardiolipin antibodies. or 3. A +ve test result for lupus anticoagulant using a standard method.

Antiphospholipid antibody syndrome

primary or 20 associated with SLE 1. Recurrent venous and arterial thrombosis 2. Recurrent fetal loss Labs Thrombocytopenia Prolonged PTT Lupus anticoagulant by mixing studies Cardiolipin antibodies +ve

Labs in SLE
ANA (99%)
Sensitive, but not specific 5-10% positive general population Positive in other auto immune disease (thyroiditis)
Specific, but not sensitive Increase with active disease Specific for SLE

Anti DNA antibody (60%)

Anti smith antibody (30%) Rheumatoid fact can be positive

Depend on organ involved Leukopenia & lymphopenia (common) Thrombocytopenia Anemia of chronic disease Hemolytic anemia with high reticulocyte count, coombs +ve Proteinurea, casts Abnormal liver & kidney function

What possible on CXR

Pleural effusion and pleural thickening Lung infiltrate from
Infection Pulmonary embolism Peumonitis Interstitial lung disease Hemorrhage

Pericardial effusion, cardiomegaly Lung congestion from heart failure

Treatment of SLE
Depend on Organ involved & severity Multispecialty care Steroids: high dose when organ endangered. Immuno-suppressive
Cyclophosphamide Azathioprine

Anti-malarial hydroxychloroquine (skin & MS)

Know side effects of medications

Steroids in particular: some side effects 1. Skin: thinning, bruises, acne like rash, stria 2. Ophthalmic: cataract, precipitate glaucoma 3. Bone: osteonecrosis, osteoporosis 4. CVS: accelerate atherosclerosis 5. Hyperglycemia, Hyperlipidemia 6. suppress immunity, opportunistic infections 7. Adrenal suppression 8. Psychosis

Scleroderma

Also called Systemic sclerosis Multisystem disease Unknown etiology Rare Peak between age 35-65 More women affected Family hx of other auto immune diseases Ethnic background influence survival and disease manifestation. Pathogenesis: Immune system activation Endothelial activation Fibroblast activation Results in Small blood vessels damage Tissue fibrosis

Clinical features Raynauds Typical skin changes Esophageal and small bowel dysfunction Interstitial lung disease Pulmonary HTN Renal crises

Raynauds Phenomenon
Reversible skin color changes: Whitebluered Due to vasospasm Induced by cold of emotion Causes: Rheumatic diseases: Scleroderma, SLE, RA, CREST, MCTD, Myositis Occlusive arterial disease Repetitive vascular injury Hyperviscosity: Polycythemia, Cryoglobulinemia Thoracic outlet syndrome

Pallor phase

Cyanotic phase

Typical skin changes

Tight thick skin Peaked nose Pursed mouth
Salt & pepper pigmentation

Microstomia

Esophageal dysmotility: Heart burn & reflux symptoms Dilated esophagus on Esophagogram

SOB DDx: 1. Interstitial lung disease: CXR, PFT, HRCT chest 2. Pulmonary HTN: Echocardiogram, right sided cardiac catheterization 3. Cardiomyopathy, HF 4. Pericardial effusion 5. Renal crises

Interstitial Lung disease Major cause of morbidity

Renal crises & HTN

Major complication Early in disease first few years Acute onset HTN Renal impairment High Renin Microangiopathic hemolytic anemia, Thrombocytopenia RF can be reversible if BP treated DOC ACEIs

CREST
1. 2. 3. 4. 5. Calcinosis Raynauds Esophageal dysmotility Sclerodactyly Telangiectasias
Calcinosis

Sclerodactyly Skin changes & flexion contractures

Telangiectasias Dilated capillaries

Diagnosis
Clinical features ANA positive 90% Anti topoisomerase 1 antibody positive(scl-70) 30% in diffuse Anticentromere antibody positive in CREST & limited scleroderma

Treatment
CCBs: may help Raynauds Skin:
No effective treatment 60% improve with time

Treat ILD and pulmonary HTN Treat HTN early and aggressive to prevent renal damage and other HTN complications Avoid steroids (renal complications)

Rheumatoid Arthritis

 Systemic disease Primarily Presents as Arthritis Etiology: Multifactor involved Diagnosis Typical clinical presentation RF not make or exclude diagnosis +ve RF More extrarticular manifestations More severe Exclude other diseases

Symptoms & signs

Low-grade fevers Excessive sweating Weight loss Fatigue Myalgia Morning stiffness Lymphadenopathy

Laboratory features
Anemia Eosinophilia Thrombocytosis Inc. ALP, AST & GT Dec. albumin & prealbumin Elevated ESR & CRP

 Early RA Symmetrical synovitis of MCPs, PIPs No deformity

Early RA Soft tissue swelling of PIPs Joints

Active severe RA Synovitis & Subluxation MCPs RA nodules

Swan neck Boutonniere

Longstanding RA Ulnar deviation RA nodules M.atrophy

RA patient with CTS

Rupture tendon in RA patient

MTPs joints affected in RA feet MCPs in hands

Soft tissue swelling around MCP, PIP joints Osteoporosis

Deformity, subluxation Osteoporosis Erosions (MCP)

Psoriatic arthritis Distal IP joints erosions Destruction

Ulna styloid erosion

Erosion of 5th MTP

MTP joints with erosions Subluxation Osteopenia

Bone uptake in RA Carpal bones MCPs PIPs

 Viral syndromes B19 mimic RA (months to years) Rubella HBV HCV (+ve RF) Bacterial infections Post Streptococcal Endocarditis Lyme disease Septic arthritis Psoriatic arthritis, reactive arthritis & other systemic rheumatological diseases Crystal arthropathy

DDx

Psoriatic arthritis
Asymmetrical Affect DIP joints Skin changes of psoriasis Can affect SI joint and cause low back pain, while RA more likely to affect Cervical spine Dactylitis , enthesiopathy in psoriatic RF usually -ve More bone reaction and sclerosis on X-ray

Sc nodules in RA
Look for Nodules Over Olecranon Achilles Occiput pressure areas RF +ve More extrarticular manifestations May worsen with treatment (methotrexate) Surgery for very large nodules Seen in other Rheumatic diseases SLE MCTD

Lung nodules in RA

ILD Abscess Cavitation TB Fungi Tumor Nodule

Eye

Extrarticular manifestations

Scleritis Keratoconjunctivitis Skin Thining Ulceration Pleural effusion Pericardial effusion Lung fibrosis Nodules Effusions Splenomegaly Lymphadenopathy Amyloidosis (GIT & kidney) NS Peripheral neuropathy Mononeuritis Multiplex Muscle wasting BM Anemia Thrombocytosis

Major ocular manifestations

Keratoconjunctivitis sicca Scleritis: painful & serious Episcleritis Uveitis

Episcleritis Superficial but cause irritation

Scleromalacia Potential serious complications Perforation

Marginal corneal disease & perforation

Scleromalacia perforance

Vasculitis
affecting small terminal arterioles

Vasculitis & gangrene

Signs of spinal cord damage

Severe neck pain radiating to Occiput Tingling or numbness in fingers and feet Motor weakness Urinary bladder dysfunction Jumping legs

Posterior displacement of odontoid process Normal preodontoid space <3mm

Treatment
1. 2. 3. 4. NSAIDS Steroids Hydroxychroloquine DMARD
1. 2. 3. 4. Methotrexate Leflunmide Sulfsalazine Azathioprine

5. New agents
1. Infliximab 2. Etanercept

NSAIDS
Symptomatic relieve Be aware of side effects:
GI toxicity Fluid retention & hypertension Renal impairment Hepatic injury

Use one your familiar with COX2, less GI toxicity but not 100% GI safe, other side effects may be more common, not cardio protective consider add ASA if patient has CVS risks

Steroids
Very effective, fast action, used both as local as intraarticular injection or systematic. 1. Induction therapy, and to treat flares 2. Bridging therapy till other DMARDS start to act Treat RA vasculitis with DMARDS Local injection (into joints or soft tissue) Side effects Osteonecrosis Osteoporosis Hypertension, accelerated atherosclerosis Hyperglycemia Wt gain, Fluid retention, Cushenoid features Adrenal suppression Skin thinning, easy bruising, acne like rash Many other side effects

Hydroxychroloquine
For mild disease and as part of multi drug therapy Usual dose 200mg bid po Very safe Delayed onset of action: within 3 months Retinopathy is rare and only if dosage of > 6mg/kg is used Eye exam 6 months to screen for retinopathy

Methotrexate
Antimetabolite when treating cancer Inhibition of inflammation in RA by increasing intracellular adenosine and inhibit cells that participate in inflammation Main DMARD for RA Used alone or in combination Safe if used and monitored appropriately

Methotrexate continue
Usual starting dose 7.510mg given as single weekly dose, average dose 1517.5mg, may need 20-25mg Po absorption is less when dose is higher than 15mg, better if given SQ Onset of action about 4 weeks
Always give folate supplement to reduce adverse effects including: Stomatitis Hair loss BM suppression Hepatic toxicity monitor liver transaminases and albumin q 2 months Hypersensitivity peumonitis: stop MTX in case of unexplained cough or SOB Bone marrow suppression Teratogenic

Other DMARDs
Leflunmide: effective as single or in combination 1020mg qd, may cause
Diarrhea Heaptotoxicity

Sulfsalazine :slow acting, helps in combination therapy, cause

Myelosuppression Rare heaptotoxicity

Azathioprine :cause
Myelosuppresion Hepatotoxicity

New agents
Infliximab: chimeric antibody to TNF Effective as single or combined Expensive Injection only Side effects:
Local and systemic reaction to injection or infusion Opportunistic infection and sepsis, (test all for PPD) May trigger autoimmune antibodies Not to give with h/o recent malignancy(5y)

Etanercept: TNF soluble receptor

Juvenile Rheumatoid Arthritis

Juvenile Rheumatoid Arthritis

Syndrome of several type of arthritis Most common chronic disease in children Etiology: unknown Treatment: NSAIDS Steroids: systemic & intraarticular DMARDS:
Methotrexate Azathioprine TNF blocking
ACR 1977 Criteria for JRA Onset <16 years of age Persistent arthritis > 6 weeks Types: Pauciarticular :< 5 joints Polyarticular :> 4 joints Systemic : Fever & rash

Systemic JRA
Typical < 5 y old child Daily spiking fever Temp will go back to normal or bellow normal in between episodes. Transient macular salmon-pink rash (evening) Non- pruritic Over trunk and extremities Rash appear with fever & subside when fever subside

Arthritis onset may be delayed

Typically symmetrical polyarthritis Wrists & ankles most commonly affected

Generalized lymphadenopathy Hepato-spleenomegaly Pericarditis Pleuritis Uveitis is uncommon Elevated: ESR, CRP, WBC, Plts RF & ANA typically ve DDx: Infections and febrile illnesses Leukemia/lymphoma Other tumors of children Other CT diseases Reaction to drugs

Polyarticular
Affect >4 joints, 2 main subtypes 1. RF +ve usually
o o o o o o > 8 years old More girls More erosive and aggressive disease Resemble adult RF+ RA Remission is rare Uveitis is uncommon but often develop pulmonary disease, keratitis, vasculitis and Sjogren syndrome Less systemic features Less aggressive arthritis, ANA+ 50% Uveitis is common

2.

RF -ve
o o o o

Pauciarticular JRA
Early onset type:
age 1-5 More girls Often ANA+ Highest risk of eye involvement 30-50% 80% of whom has minimal or no symptoms

Late onset:
Affects more boys 50% HLA+ Affect large joints, spine, likely to have tendonitis, enthesitis Eye involvement less than early onset type

Irregular pupil due synechiae between the lens & iris Also hypopyon is seen

Systemic JRA rash

JRA affecting PIPs MCPs Wrist joints

GOUT

Disease of adult men with peak in 5th decade. Very rare before puberty & in premenopausal women. <25% of hyperuricemic develop GOUT 20% family history Duration & serum uric acid directly correlate with Gout development Caused by tissue deposition of Monosodium urate crystals Hyperuricemia Serum uric acid >7mg for adult men > 6mg for adult women Only 15-20% develop gout. Mechanism: Overproduction of urate Endogenous Exogenous Underexcretion of urate (90%) Combination

Primary
1. Under excretion:
Idiopathic (90%) Normal excretion only when serum uric acid high

2. Over production: rare

Idiopathic Hypoxanthine-guanine phosphoribosyltransferase deficiency Phosphoribosyl-1-pyrophosphate synthetase super activity.

ACQUIRED CAUSES OF HYEPERURICEMIA

1. URATE OVERPRODUCTION Excess dietary purine consumption Accelerated ATP degradation: Alcohol abuse Glycogen storage disease, Myeloproliferative and Lymphoproliferative disorders Urate under excretion Renal disease Poly cystic kidney disease HTN Hyperparathyroidism Hypothyroidism

DRUGS, decreased renal excretion Cyclosporine Alcohol

Increases lactic acid Increased ATP degradation Contain purine guanosine

2.

Nicotinic acid Thiazide Lasix (furosemide) Aspirin (low dose) Ethambutol (anti-TB) Pyrazinamide (anti-TB)

Stages:
Prolonged a symptomatic hyperuricemia (years) Acute intermittent Gout Chronic tophaceous Gout

Clinical:
Recurrent Gouty Arthritis (articular & periarticular) Tophi Uric acid urinary calculi Interstitial nephropathy with renal function impairment

Gout involving DIPs

Podagra Gout of ankle joint

Acute onset Affect 75% 1st MTP Severe pain Very tender Erythema May be febrile Resolve 3-10 days

Tophi hands & olecranon bursa

Tophacous Gout

Needle like Intra or extra cellular -ve birefringent

Olecranon bursitis

Soft tissue swelling because of Tophi Large erosions involving DIPs, with hanging edges

Soft tissue swelling around 1st MTP Erosion around 1st MTP This takes years to develop

DDx:
Pseudo Gout (CPPD) Septic arthritis Reactive arthritis Other inflammatory arthritis

Treatment:
NSAIDs (indomethacin) Colchicine Steroids Uricosuric agents Probencid Sulfinprazone Xanthine oxidase inhibitor Allopurinol Prophylaxix Colchicine Steroids

MANAGEMENT OF ACUTE GOUT

NSAID:
Indomethacin used more than other NSAIDs May use any other NSAIDs at full dose like ibuprofen 800mg TID or Naprosyn 500mg bid expect to as effective as indomethacin and my be less toxic

Know NSAID toxicities Know NSAIDs contraindications,

CONTINUE ACUTE GOUT MANAGMENT

Colchicine: 0.6-1mg bid oral Limited because of toxicity Main side effects GI:
Abdominal pain Diarrhea Nausea

Need adjustment in renal impairment May cause myelosuppression May be linked to azospermia and infertility IV Colchicine very toxic to BM

CONTINUE ACUTE GOUT MANAGEMENT

Steroids safe for acute management with fast results, and when NSAID and Colchicine use not warranted Intra-articular injection of triamcinolone is fastest way to get relief ,at the same time can get synovial fluid for analysis Oral or parentral steroids e.g.: prednisolone oral 2040 mg daily for 5-7 days, equivalent doses of IV steroids may be used if unable to take oral Always make sure no infection coexist.

Prevention & control of hyperuricemia indications

1. 2. 3. 4. 5. 6. Recurrent attacks of Gout Tophaceous Gout Chronic gout with joint damage and erosions Hyperuricemia uric acid > 12mg/dl Renal stones 24 hr urine excretion of >1100 mg uric acid

Uricosuric agents Probencid, sulfinprazone Who is good candidate 1. Age <60 2. Creatinine clearance >50ml/min 3. 24 hr urine of uric acid <700mg (under excretion) 4. No history of renal stone

Xanthine oxidase inhibitor Allopurinol Hyperuricemia with : Urinary uric acid >1000mg Uric acid nephropathy Nephrolithiasis Renal insufficiency GFR<50 Before chemotherapy Allergy to Uricosuric agents

Allopurinol
Average dose 300mg Renal impairment use lower dose May precipitate acute gout when first used Side effects can be very serious range from
Dyspepsia Diarrhea Headache Rash to more severe including Fever Hepatitis Interstitial nephritis, acute renal failure Vasculitis Toxic epidermal necrolysis Esosinophilia Hypersensitivity syndrome.

Pseudo gout (chondrocalcinosis)

Behcets disease

 Chronic relapsing systemic inflammatory disease More common & severe along the silk road from eastern Asia to the Mediterranean Slightly more men, ages 20-40

Etiology & Pathogenesis Auto immune disease Unknown cause Genetically predisposed Aberrant immune response triggered by infections Increased
Immune complexes Cytokines CD8/CD4 ratio

Decrease CD4 suppressor

Also evidence
Endothelial activation with low activated protein C levels , VEGF high Vasculitis with lymphocytic infiltration of mucocutaneous lesion and neutrophilic infiltrate in pathergy test.

Clinical manifestations
Recurrent oral ulcers Genital ulcers Ocular lesions Skin lesions Pathergy test Neurological Vasculitis Arthritis Renal GI Coetaneous lesion Acne like rash Pseudofolliculitis superficial thrombophlebitis Erythema nodosum (EN) Pyoderma gangrenosumtype lesions Nodules Palpable purpura

Oral ulcers

Painful Similar to common aphthus ulcers but

Size (mm - cm) Spontaneously heal within 1-3 weeks Can be continuous Criteria:
More extensive Multiple

Pathergy test
skin prick by a needle After 24-48 hrs Erythematous papular/pustular response 2mm or more considered +ve test 50-75% of eastern patients 10-20% of north European patients only

Usually first & last manifestation of the disease leave

Recurrence of ulcers >3X/year

Shallow oral ulcer

Multiple Painful

Genital ulcers (75%) Painful Scrotal in men & vulva in women Scrotal lesion may scar

Ocular lesions (25-75%) Pan uveitis ,episodic, bilateral ,may lead to blindness Retinal vasculitis Optic neuritis Vascular occlusion Treatment: Immunosuppressant

Neurological (20%) Meningitis Encephalitis Focal deficits cerebral more than cerebellar CN palsies Psychiatric conditions Dementia Peripheral neuropathy uncommon

 CSF

MRI

Elevated protein & pleocytosis Elevated pressure

Brainstem Basal ganglion lesions White matter Periventricular lesions

Prognosis
Bad prognosis
CSF with high protein and pleocytosis Parenchymal lesion Death (90%)

Dural sinus thrombosis (venous & arterial) Angiogram (vasculitis) Subarachnoid hemorrhage

Good prognosis
Normal CSF

Vascular
Affects 1/3 Manifestations Small to large vessel vasculitis Aneurysm formation Arterial or venous thrombosis Varices Arterial vasculitis with aneurysm formation may affect (life-threatening) Aorta Large vessels (pulmonary artery)

Pulmonary vascular

Hemoptysis (pulmonary arterybronchus fistulae) Misdiagnosis of PE Pulmonary arteriography is diagnostic. Pulmonary infarction is uncommon.

Other vascular
Superficial thrombophlibitis DVT Budd-Chiari syndrome IVC thrombosis MI & arterial thrombosis Pulse less disease like pictures

Arthritis
Affects More women Affects medium-large joints Most common knee followed by ankle and wrist joint Typically asymmetrical. Inflammatory type Sacroiliitis may develop particularly with HLA-27 +ve.

Renal Common Usually mild Amyloidosis may be seen Proteinurea, hematuria Mild renal impairment Rarely progress to ESRD Pathology:
Crescentic GN Proliferative GN IgA nephritis

GI Oral ulcers Ulceration in esophagus, terminal ileum, cecum & ascending colon DD: IBD Pancreatitis reported

DDx: Common oral ulcers IBD Rheumatic diseases (SLE) Vasculitis Drug reaction (Methotrexate) Pemphigus and pemphigoid

Treatment: Steroids Colchicine Immunesuppressant Aspirin Anticoagulation

Treatment
Mucocutaneous: topical steroid, colchicine, thalidomide, Dapsone Resistant lesions may use azathioprine, methotrexate Ocular disease :use local and systemic steroids & immunosuppressant with azathioprine, cyclosporine, methotrexate Major organ involved CNS, Lungs and vasculitis high dose steroid and immunosuppressant drugs are used Immunosuppressant includes cyclophosphamide ,chlorambucil, interferon alfa ,TNF inhibitors, mycophenolate mofetil Superficial thrombophlibitis :low dose aspirin DVT and PE use systemic anticoagulation and consider immunosuppressant Concern with anticoagulation presence of pseudo aneurysms and risk of bleeding which can be fatal.

Prognosis and course

Disease characterized by exacerbations and remissions Worse in young adult males Neurological, ocular, and large vessel arterial or venous disease carries highest morbidity & mortality. 5 year survival 80% Prognosis seems better with treatment

Spondyloarthropathies

Group of disorders Inflammatory axial spine involvement Asymmetrical peripheral arthritis Enthesopathy Inflammatory eye disease Mucocutaneous features RF -ve High frequency of HLA B27 AG Familial aggregation

1. 2. 3. 4. 5. 6.

Ankylosing Spondylitis Reactive Arthritis Reiters syndrome Psoriatic Arthritis Enteropathic Arthritis: Ulcerative & Crohns Juvenile Ankylosing Spondylitis

Clinical

Ankylosing Spondylitis Flat lumber spine Loss of lordosis Use hips for binding

Recurrent Iritis caused Synechiae (adhesions between the lens & iris)

Early Sacroiliitis Advanced Sacroiliitis, Fused SI joints

Syndesmophytes Apophyseal joint fusion Disc peripheral ossification

Left: squaring of vertebra Right: ant. longitudinal ligament calcification

Bamboo spine Ossification follow the contour of intervertebral discs

Calcaneal spur and erosion

Apical fibrosis

Conjunctivitis

Nail dystrophy seen in Reiters Psoriasis

Balanitis circinata

palate erosion

Tongue lesion

Heel tendonitis

Pustules

Keratoderma: skin appears horny Blenorrhagica: excesive mucus discharge

Pustules Keratoderma blenorrhagica

Plantar periostitis seen in Reiter's RA AS Psoriasis

Asymmetrical sacroiliitis

 Nail dystrophy Rash Sausage digit

Nail dystrophy Rash Arthritis

Affecting DIPs, PIPs Sausage digit No rash

Nail pitting

Nail dystrophy Arthritis

Dactylitis

Soft tissue swelling Joint destruction Erosions DIPs, PIPs, MCPs

Progressive joint changes Pencil in cup

Severe changes in DIPs less in PIPs minimal in MTPs

Treatment
NSAIDs (symptoms) Physical therapy Maintain good posture Sulfasalazine & methotrexate Anti TNF drugs Prevent eye complications
Be aware of association IBD Inflammatory eye disease Pulmonary fibrosis (1% AS) Aortitis, aortic regurgitation (1% AS) Severe reactive arthritis & HIV

FMF

Familial Mediterranean Fever

AR disease Located in short arm of ch. 16 MEFV gene encodes protein (pyrin, marenostrin) Pyrin in cytoplasm of neutrophils 28 mutation most common M694V More severe disease Higher risk of amyloidosis V726A Acute & sudden last from 6-96 hrs 1st attack <20y (90%) Characterized by Fever Serositis

Clinical
Fever alone/with Abdominal pain (95%) Mono arthritis with effusion (75%), mostly Knees Ankles Wrists Chest pain/ pleuritis (unilateral) 30% Pericarditis rare 1%

Treatment
Colchicine Abort 60% of attacks Modifies 20-30 % Also prevents amyloidosis Dose 1-2 mg QD NSAID may help abort attack

Idiopathic Inflammatory Myopathies

Rare disease incidence of 2-10/million Bimodal Peak 10-15, 45-55y F:M 2:1 Malignancy associated more after age 50 Group of autoimmune diseases characterized by:
1. Proximal muscle weakness 2. Non suppurative inflammation

Extramuscular features
1. Pulmonary: interstitial Peumonitis & fibrosis 2. Cardiac: SVT, Cardiomyopathy, HF

Classification Adult Polymyositis Adult Dermatomyositis Childhood DM/PM PM/DM associated with malignancy PM/DM associated with CT diseases

Clinical features Proximal muscle weakness Difficulty swallowing Arthralgia (common) Myalgia (severe pain & tenderness) Skin Rash

Skin rash Heliotrope rash

Skin rash: Silver scaly rash Over joint extensor surfaces

Photosensitive rash

DDx: Endocrine: Hypo/hyperthyroidism Hypo/hyperparathyroidism Cushings Hypoadrenalism Infections: Viral Toxoplasma Trichinosis CT diseases SLE, Scleroderma RA, Vasculitis Drugs Alcohol Cholesterol lowering medications

Labs Elevated enzymes: Creatinine kinase Aldolase LDH AST, ALT ESR only elevated in 50%

Criteria of the Diagnosis 1. Proximal muscle weakness 2. Elevated muscle enzymes 3. Myopathic changes by EMG 4. Muscle inflammation on biopsy 5. Skin rash with Dermatomyositis

Treatment 1. Steroids 2. Immunosuppressive (steroid conserving) like Methotrexate, Azathioprine. 3. IVIg 4. Physical therapy and rehabilitation