Systemic sclerosis / Scleroderma
Path	·       Progressive tissue fibrosis ·       Vascular dysfunction
S/S	·       Systemic: Fatigue, weakness ·       Skin: Telangiectasia, sclerodactyly, digital ulcers, calcinosis cutis ·       Extremities: Arthralgias, contractures, myalgias ·       GI: Esophageal dysmotility, dysphagia, dyspepsia ·       Vascular: Raynaud phenomenon
Dx	·        ANA ⊕ ·       Anti-topoisomerase I (anti-Scl-70) ·       Anti-centromere antibody (CREST)
Comp	·       Lung: Interstitial lung disease, pHTN ·       Kidney: HTN, scleroderma renal crisis (HUS in Scleroderma) ·       Heart: Myocardial fibrosis, pericarditis, pericardial effusion

	Scleroderma
Limited	·       Scleroderma on UL ·       more vascular Sx: ·       Raynaud ·       Telangiectasia ·       pHTN ·       CREST ·       Anticentromere ab ·       Better prognosis
Diffuse	·       Prominent internal organ sx ·       Renal crisis ·       MI & fibrosis ·       Interstitial lung disease ·       Anti-Scl-70 (topoisomerase-l ) ab ·       Anti-RNA polymerase Ill ab ·       Worse prognosis

	Sjögren syndrome
Features	Autoimmune sx + جفاف
S/S	·       Keratoconjunctivitis sicca ·       Dry mouth, salivary hypertrophy ·       Xerosis ·       Raynaud phenomenon ·       Cutaneous vasculitis ·       Arthralgia/arthritis ·       Interstitial lung disease ·       Non-Hodgkin lymphoma
Dx	·       ⤵️  Lacrimation (Schirmer test) ·       ⊕ anti-Ro (SSA) I anti-La (SSB) ·       Salivary gland BX with focal lymphocytic sialoadenitis

	Behçet disease
#	·       Young adults ·       Turkish 🇹🇷, Middle Eastem pt
S/S	·       Recurrent, painful oral aphthous ulcers ·       Genital ulcers ·       Eye lesions (eg, uveitis) ·       Skin lesions (eg, erythema nodosum, acneiform lesions) ·       Thrombosis
Dx	·       Pathergy – Exaggerated skin ulceration with minor trauma (eg, needlestick) ·       Bx– Nonspecific vasculitis of different-sized vessels

	Vitiligo
S/S	·       Depigmented macules on acral areas & extensor ·       surfaces; face commonly affected ·       Lesions may be symmetrical, dermatomal, or unilateral
Dx	·       Most cases progress gradually ·       Repigmentation is spontaneous in of cases ·       Other autoimmune disorders (lupus, thyroid disease, pernicious anemia, Addison disease)
Tx	·       Limited: Topical corticosteroids ·       Extensive/unresponsive: Oral corticosteroids, topical calcineurin inhibitors, PUVA

	Wegener Granulomatosis (Granulomatosis w/ Polyangitis)
Features	3 Cs (Nose – Lung – Kidney)
S/S	·       Nose: saddle-nose deformity, Ulcers ·       Upper respiratory: Sinusitis/otitis, ·       Lower respiratory: Lung nodules/cavitation / tracheal narrowing + ulcers ·       Renal: Rapidly progressive GN ·       Skin: Livedo reticularis, nonhealing ulcers ·       A common sign of wegener is chronic rhinitis that does not respond to usual treatment and getting worse. ·       Arthritis occurs in about 60% of the cases.
Dx	·       C-ANCA is never diagnostic for WG. ·       To dx → bx the affected organ and look for granuloma ·       Skin (leukocytoclastic vasculitis)
Tx	·       Corticosteroids ·       Immunomodulators (MTX, cyclophosphamide)

	Giant cell arteritis
Systemic	Fever, fatigue, malaise, weight loss
Localized	·       Jaw claudication: Most specific symptom of GCA ·       Polymyalgia Rheumatica ·       Arm claudication: bruits in subclavian or axillary areas ·       Aortic wall thickening or aneurysms ·       CNS: TIAs/stroke, vertigo, hearing loss
Visual	Amaurosis fugax: Transient vision field
Dx	·       Normochromic anemia ·       Elevated ESR & CRP ·       Temporal artery BX
Tx	·       PMR only: Low-dose oral glucocorticoids ·       GCA: Intermediate-to- high-dose oral glucocorticoids ·       GCA with vision loss: high-dose IV glucocorticoids for 3 days

	Takayaso Arteritis
RF	👩🏻 / Asian / Age: 10-40
Sx	·       Constitutional (fever, weight loss) ·       Arterial (claudication, ulcers) in UL ·       Arthralgias/myalgias
PEx	·       BP discrepancies ·       Pulse deficits ·       Arterial bruits
Dx	·       ⤴️ inflammatory markers (ESR, CRP) ·       CXR: Aortic dilation, widened mediastinum ·       CT/MRI: Wall thickening, narrowing of lumen
Tx	Systemic glucocorticoids

SLE

·       Anti-Ro? Neonatal Lupus  ·       Lupus nephritis is probably the most common cause overall of disability in patients with SLE. ·       PREGNANCY AND SLE: o   They are fertile, and normal (طمئنهم من هذه الناحية), they only have ⤴️ risk for spontaneous abortion o   Screen all of them for anti-ro / anti-la (they cross placenta and causes neonatal lupus + heart block)  o   In case SLE worsens during pregnancy → Steroids  ·       In case of antiphospholipid → LMWH  ·       How to confirm Dx of Drug-induced lupus? when u stop the drug, sx resolves within 2 weeks.  thats how u dx.  ·       How to ddx acute lupus from drug-induced lupus? drug-induced lupus usually doesn’t have: renal + skin and it’s usually milder. It presents w/ Fever & arthritis.  o   Hydralazine is the exception to anti-histone in drug-induced lupus, as only about one-third of patients will have positive anti-histone antibodies. ·       What is antiphospholipid syn? o   simply, a hypercoagulable state that presents w/ abortion or embolism o   Antiphospholipid or anti-cardiolipin  o   False +ve syphilis tests ·       Management: o   Early (skin/arthritis) –> NSAIDs / Hydrochloroquine (check the eye) o   Late (Renal/CNS) –> Cyclophosphamide (prevent hemorrhagic cystitis w/ MESNA) o   Flares (many sx + FEVER + ⤴️ ESR) –> Steroids

	Presentation of SLE
Sx	·       Constitutional: fever, fatigue & weight loss ·       Symmetric, migratory arthritis ·       Skin: butterfly rash & photosensitivity ·       Serositis: pleurisy, pericarditis & peritonitis ·       Thromboembolic events (due to vasculitis & antiphospholipid antibodies) ·       Neurologic: cognitive dysfunction & seizures
Labs	·       Hemolytic anemia, thrombocytopenia & leukopenia ·       Hypocomplementemia (C3 & C4) ·       Antibodies: ·       ANA (sensitive) ·       Anti-dsDNA & anti-Smith (specific) ·       Renal involvement: proteinuria & elevated creatinine

	Clx	Dx
Fibromyalgia	·       Young to middle-aged women ·       Chronic widespread pain ·       Impaired concentration ·       Fatigue ·       Tenderness at trigger points	·       ≥3 months of symptoms with widespread pain index or symptom severity score ·       Normal laboratory studies
Polymyositis	·       Proximal muscle weakness (increasing ·       difficulty climbing up stairs) ·       Pain absent	·       Elevated muscle enzymes (CK, aldolase, AST) ·       Autoantibodies (ANA, anti-Jo-1) ·       Bx: Endomysial infiltrate, patchy necrosis
Polymyalgia Rheumatica	·       Age > 50 ·       Systemic signs & symptoms ·       Stiffness > pain in shoulders, hip girdle, neck ·       Association w/ GCA	·       Elevated ESR, C-reactive protein ·       Rapid improvement with glucocorticoids

DDx of myopathy (note that ESR only in autoimmune dz)
	Clx	ESR	CK
GCS	·       No pain ·       Hx of GCS Use	ⓝ	ⓝ
Polymyalgia rheumatica	·       Stiffness + Pain ⤵️ ROM ·       Responds fast to GCS	⤴️	ⓝ
Inflammatory	·       Pain ·       +/- Rash / Arthritis	⤴️	⤴️
Statin	Static = Local Pain	ⓝ	⤴️
Hypothyroidism	·       Sx of Hypothyroidism ·       Pain ·       ⤵️ DTR ·       Myoedema	ⓝ	⤴️

	Dermatomyositis
Muscles	·        Proximal weakness ·       UL = LL
Skin	·        Gottron’s Papules ·       Heliotrope rash
Extra	·       ILD ·       Dysphagia ·       Myocarditis
Dx	·        ⤴️ CPK / Aldolase / LDH ·       Anti-RNP / Jo1 / Mi2 ·       If uncertain? ·       EMG ·       Bx
Tx	High-dose GCS + Screen for malignancy

Disease	Antibodies
SLE	·       ANA (if negative –> R/O) ·       Anti-double stranded DNA (dsDNA) ·       high specificity ·       helps monitor disease activity ·       Anti-Smith ·       highest specificity ·       Anti-cardiolipin ·       Lupus anticoagulant
Antiphospholipid	·       Anti-β2 glycoprotein ·       Anti-cardiolipin ·       Lupus anticoagulant
Drug-induced lupus	·       Anti-histone
Sjögren	·       ANA ·       Rheumatoid factor ·       Anti-ribonucleoprotein antibodies ·       SS-A (anti-Ro) ·       SS-B (anti-La)
Mixed connective tissue	·       Anti-U1-RNP (ribonucleoprotein) ·       high specificity
Scleroderma	·       Anti-Scl-70 (anti-DNA topoisomerase I) ·       high specificity ·       Anti-centromere ·       specific for CREST ·       Anti-RNA polymerase III
Dermatomyositis Polymyositis	·       Anti-synthetase (anti-Jo-1) ·       Anti-helicase (anti-Mi-2) ·       more specific for dermatomyositis ·       Anti-signal recognition particle (SRP) ·       more specific for polymyositis
PBC	Anti-mitochondrial
A.I Hepatitis	Anti-SM

	Tumor	Features	X-ray	Tx
Benign	Osteoma	·       associated w/ Gardner Syndrome		Look for Colonic polyps
	Osteoid Osteoma	·       Central nidus ·       OO = Ouch = painful ·       ⊕ Pain relief w/ Aspirin	·       Distal femur ·       Vertebra (painful scoliosis)	·       Observation ·       NSAIDs
	Osteoblastoma	·       Central nidus ·       ⊖ relief w/ Aspirin	·       Vertebra (MC)
	Giant cell tumor	·       Epiphyseal ·       Associated w/ Paget’s	Soap-bubble	Excision
	Osteochondroma (LY)	·       Cartilage ·       can progress to chondrosarcoma
Malignant	Ewing Sarcoma	·       11/22 Translocation ·       Small blue cell tumor ·       rare	Onion ring moth eaten	chemo
	Osteosarcoma	·       MCC ·       B Sx are usually absent ·       ⤴️ ALP / Lactate ·       Tumor of osteoblasts ·       Associated w/ Paget’s ·       Associated w/ Rb mutation (Retinoblastoma)	·       Metaphysis ·       Sun burst	·       OR (resect) ·       Pre/Post OP Chemo

	Paget disease of bone
Path	Osteoclasts dysfunction – Increased bone turnover
S/S	Asx Bone pain & deformity ·       Skull: headache, hearing loss ·       Spine: spinal stenosis, radicu/opathy ·       Long bones: bowing, fracture, Giant cell tumor, Osteosarcoma
Labs	·       ⤴️ alkaline phosphatase ·       ⤴️ bone turnover markers (PINP, urine hydroxyproline) ·       ⓝ Calcium & phosphorus
Dx	·       X-ray: osteolytic or mixed Iytic/sclerotic lesions ·       Bone scan: focal ⤴️ in uptake
Tx	Bisphosphonates

	Septic Arthritis
RF	• Abnormal joint: OA, RA, prosthetic joint, gout • Age >80 • Diabetes • IV drug abuse, • alcoholism • Intra-articular glucocorticoid injections
Clx	• Acute monoarthritis: hot, swollen, ⤵️ ROM • Elevated ESR & CRP • Fever
Dx	• Blood Cx • Synovial fluid analysis: leukocytosis (>50k)
Tx	• Gram stain, culture • Gram-positive cocci : vancomycin • Gram-negauve rod: third-generati(N1 • Negative microscopy vancomycin (+ third-generation cephalosporin if imrnunocornprornised)

Gout

Pseudogout

o   RF: hyperuricemia (>6.8). Many causes for that: food, TLS, meds, lysh-nyhan…. o   Dx: ·       JOINT ASPIRATION + CRYSTAL IS GOLD STANDARD ·       can be clinical dx ·       The serum uric acid during the acute attack may be normal or low. On the other hand, many people have elevated serum uric acid levels and never develop gout. Thus, the serum uric acid level is of no value in the diagnosis of acute urate arthropathy. o   Tx: ·       Acute: NSAIDs —(can’t, b/c of GI)—> Colchicine —(cant use both or renal impairment)—> Oral steroids  ·       If NSAIDs are not enough? –> Add steroids ·       Chronic: Lifestyle –⤵️ meat, alcohol and so on. —(didn’t work)—> Allopurinol —(can’t  use allopurinol)—> Febuxostat ·        Allopurinol should not be initiated during an acute crisis. However, if a patient has been taking allopurinol and an acute attack occurs, it should not be discontinued (add NSAID)

o   The knee is the most commonly affected joint; o   Radiographs may reveal linear radiodense deposits in joint menisci or articular cartilage (chondrocalcinosis) o   Tx: just like gout (but to prevent: add colchicine)

	Pseudogout
S/S	·        Acute mono-arthritis ·       Severe pain ·       Knee most commonly
Dx	·        Arthrocentesis: Inflammation (15k-30k cells) ·       CPPD Crystals (⊕ Birefringence / Rhomboid Shape) ·       Chondrocalcinosis on imaging
Tx	·        Intra-articular GCS ·       NSAIDS ·       Colchicine

	Gout RF
⤴️	·       Medications (Diuretics, low-dose aspirin) ·       Surgery, trauma, recent hospitalization ·       Volume depletion ·       Diet: High-protein foods (meat, seafood), high-fat foods ·       Heavy alcohol consumption
⤵️	Dairy product intake Vitamin C (21 ,500 mg/day) Coffee intake (26 cups/day)

Prevention of future gout attacks

·       Weight loss: get BMI <25 ·       Low-fat diet ·       ⤵️  red meat intake ·       Avoid Alcohol ·       Avoid diuretics when possible

	Ankylosing spondylitis
Sz	·       Young age ·       Sx >3 months ·       Relieved with exercise but not rest ·       Nocturnal pain
PEx	·       Arthritis (sacroiliitis) ·       ⤵️ chest expansion & spinal mobility ·       Enthesitis (tenderness at tendon insertion sites) ·       Dactylitis (swelling of fingers & toes)
Comp	·       Osteoporosis/vertebral Fx ·       Aortic Regurgitation ✳️ ·       Cauda equina
Tx	·       ⤴️ ESR & CRP ·       HLA-B27

	Psoriatic Arthritis
Arthritis	·       Distal interphalangeal joints ·       Asymmetric oligoarthritis ·       Symmetric polyarthritis, similar to RA ·       Arthritis mutilans (deforming & destructive arthritis) ·       Spondylarthritides (sacroiliitis & spondylitis)
Soft-tissues & Nails	·       Enthesitis (inflammation at site of tendon insertion into bone) ·       Dactylitis (“sausage digits”) of toe or finger ·       Nail pitting & onycholysis ·       Swelling of the hands or feet with pitting edema
Skin	·       Arthritis precedes skin disease in 15% of patients ·       Skin lesions are present but not yet diagnosed in 15% of patients