Rheumatology Flashcards

Question

Criteria for diagnosis of SLE

Answer 1

Need 4/11 criteria 1. MUCOSA: **ulceration** of mucosa of mouth/nose 2. SKIN: **malar rash** after sun exposure, discoid/plaque like rash, general skin **photosensivity** 3. SEROSA: **pleuritis, pericarditis** -\> endocarditis, myocarditis 4. RENAL: haematuria, GN, proteinuria 5. MSK: arthralgias, arthritis 6. BLOOD: _anaemia, thrombocytopaenia, neutropaenia_ 7. EYES: iritis, episcleritis, retinitis 8. CNS: behaviour change, depression, seizures 9. Systemic: Fever, LOW, malaise, faltering growth

Answer 2

**_Neuromyelitis optica_** * AutoImmune-mediated _demyelination and axonal damage_ predominantly targeting **optic nerves and the spinal cord.** * Unlike multiple sclerosis, necrosis and cavitation typically involve both g**ray and white matter** * Sx: B/L blindness and paraplegia +/- sensory, urinary, bowel deficits -\> fundoscopy confirming optic n atrophy * Diagnosis req: MRI spine: inflammation + anti-NMO ab +/- anti-AQP4 Ab * Prognosis: The majority of NMO-related deaths result from severe ascending cervical myelitis or brainstem involvement leading to respiratory failure

Answer 3

Compared with SLE patients without aPL, SLE patients with aPL have a higher prevalence of * thrombosis * pregnancy morbidity * valve disease * thrombocytopenia * hemolytic anemia * acute/chronic renal lesions * moderate/severe cognitive impairment * worse QoL * higher risk of organ damage Note that routine use of aspirin or anticoagulation during pregnancy is not recommended due to lack of substantiating evidence

Answer 4

_Large vessel_ 1. Takayasau arteritis (more common in kids) 2. Giant cell/temporal arteritis (\>5yo) _Medium vessel_ 1. Polyarteritis nodosa 2. Kawasaki disease (coronary arteries) _Small vessel_ 1. ANCA assoc 1. Microscopic polyangiitis (no granulomatosis; renopulm syndrome, assoc w GN and ILD) 1. P-anca 2. Wegeners (granulomatous polyangiitis; assoc w rhinosinusal, LRT, GN) 1. C-anca 3. Churg strauss (granulomatosis, eosinophilic, late onset asthma, rhinosinusitis, polyneuropathy)) 1. P-anca 2. non-ANCA/immune mediated 1. HSP (often preceded by GAS infx) 2. SLE/RA (ANA, anti-dsDNA, anti-sm) 3. Cryoglubinaemic vasculitis

Answer 5

microscopic polyangiitis p-anca + also GN

Answer 6

Churg strauss p-anca + granulmatous

Answer 7

Wegeners/granulomatosis with polyangiitis

Answer 8

* = 'familial paroxysmal polyserositis' * AR condition -\> **MEFV** gene * Mediterranean: Jews, Turks, Armenians, Arab, Greeks, Italians etc * **Presentation** * 65% present before 5 years, 90% before 20 years * 1-3 days of fever + serositis +/- rash (mimics cellulitis) * Pleuritis * Peritonitis can mimic appendicitis * Peritonitis * Joint inflammation (Monoarthritis) * Scrotal attacks can mimic torsion * Elevated inflamm markers w attacks * NO autoantibodies * Well between flares * **Diagnosis:** Clinical + confirmation w genetics for MEFV gene) * **Tx:** Uncontrolled IL1--\> treat with Anakinra, Colchicine * **Complications:** _amyloidosis_ and renal failure (monitor renal function as can deteriorate over time)

Answer 9

PIMS-TS (Cx of covid19 infection) Toxic shock syndrome Kawasaki Shock Syndrome [KSS] - \<5% of Kawasaki cases

Answer 10

Rare but serious complication that occurs 2-6 weeks after infection with SARS-CoV-2 (note initial covid infection might be negative Ix * Low WCC, lymphocytes, plt * high crp, esr, ferritin * hypoNa * deranged coags * high troponin * echo - cardiac dysfunctin, coronary artery anomalies * Covid SEROLOGY Tx * Corticosteroids * Intravenous immunoglobulin (IVIg) * Low-dose aspirin

Answer 11

Clin ft TRIAD: **Rash, fever and polyarthritis.** - Pruritic Rash - urticarial-type lesions (see images below) Often appearing first in _flexural areas_ and then becoming more generalised Persist for days in same area (migate more slowly that true urticarial rash) Lesions gradually expand, and may leave a central area of clearing or slight purpura. _Spare the oral mucosa_ - Erythema and oedema of hands and feet is common - Polyarthritis – acute joint pain, limp, inability to walk - Fever – _true serum sickness \> 38.5_ vs _SSLR low-grade fever_ - _Lymphadenopathy_ - _Odema_ of hands, feet, facial, periorbital region - Low C3 and C4 (type 3 HS reaction) Time course: Signs and symptoms of true serum sickness occur 1-2 weeks after first exposure, while SSLRs usually develop after 5 to 10 days. Treatment: Identification and removal of the causative agent is the key, but note treatment may have been ceased prior to appearance of rash. - True Serum Sickness TRIGGERS : • Snake anti-venom, equine and rabbit anti-thymocyte globulin (ATG) • Monoclonal antibody drugs such as Rituximab are most often implicated. • Insect stings eg: bees • Antiserum – rabies and tetanus - Serum Sickness-Like Reaction (SSLRs) TRIGGERS • Cefaclor and amoxicillin. • Illnesses • Immunisations

Answer 12

Aseptic inflammatory polyarthritis that usually follows nongonococcal urethritis (*Chlamydia)* or infectious dysentery (*salmonella*); commonly in *young men/teenage boys* Classic clinical triad: 1. _Arthritis_ (polyarticular, assymmetrical, often lower extremities) 2. _Conjunctivitis_ 3. _Urethritis/cervicitis_ (may be asymptomatic, or present w haematuria +/- purulent discharge) Onset of polyarthritis 1-2 weeks following initial infection Ix: anaemia, elevated ESR/CRP, joint aspirate: very high WCC (neuts), no glucose, no crystals. Cx: cardiac complications include aortitis, aortic valve insufficiency, complete heart block Tx: indomethacin (steroids less helpful), doxycycline if chlamydia suspected

Answer 13

Viral (chlamydia) and post-Gastro (salmonella) including acute rheumatic fever - resp, GU and GIT infections in preceding 4 weeks (yersinia, shigella, salmonella, campylobater, mycoplasma, streptococcal, chlamydia and gonnorrhoea) Features - Lower limb - Asymmetric - OLIGOarthritis (2-4 joints) - no clinical infx of joint - may last weeks to months with recurrences over several years - ANA, RhF neg; may be **HLA-B27 pos**

Answer 14

Type 3 hypersensitivity reaction Chronic autoimmune disease characterized by polyclonal B cell activation + production of autoantibodies + C' activation

Answer 15

Diagnostic criteria = fever persisting for 5 days, plus 4 of 5 criteria i. Conjunctivitis = bilateral, ‘dry’ or non-purulent, preferentially bulbar in distribution ii. Lymphadenopathy = cervical, most commonly unilateral, tender, at least one node \>1.5cm iii. Rash = polymorphous, without vesicles, bullae or crusts; occurring in the first few days, involving he trunk and extremities iv. Lips and oral mucosa changes = intense hyperaemia of lips leading to redness and cracking and/or diffuse erythema or oropharynx; strawberry tongue v. Extremity changes = hyperaemia and painful edema of hands and feet that progresses to desquamation in the convalescent stage; perineal desquamation frequently associated

Answer 16

Coronary aneurysm (20%), pericardial effusion, CHF and myocardial infarction -\> late changes, rarely occur before day 10 Why you need an echo at baseline and then on follow-up at 6 weeks Including ECG

Answer 17

- Group A beta haemolytic strep - Entry point is pharynx - Follows 2-4 days after streptococcal pharyngitis infection **Clinical features** o Fever, headache, sore throat, rigors, vomiting, anorexia o Swollen tonsils -\> White coated tongue (peels) -\> _strawberry tongue_ o Flushed cheeks with _circumoral pallor_ o Rough/‘_Sandpaper’ rash_ starting on neck then spreading to rest of body (including face, palms, soles) Ix o Throat swab - PCR o ASOT and anti-DNAse B present Mx o Oral penicillin for 10 days (erythromycin if penicillin allergy)

Answer 18

1. **IVIG** as single infusion within first 10 days of illness (second dose if not responded to 1st) 2. **Aspirin** daily until follow-up echo at 6 weeks 3. Steroids at the commencement of treatment for KD in high-risk patients (a bit controversial)

Answer 19

**Wegeners vasculitis or 'granulomatosis with polyangiitis'** - Necrotising vasculitis most prominent in lung and kidneys - Consider in children with sinusitis, pulmonary infiltrates, and evidence of nephritis - Clinical manifestations o Fatigue, weight loss, arthralgia o Rhinosinusitis o Resp: Cough and dyspnoea, Pulmonary haemorrhage (haemoptysis), subglottic stenosis o Proliferative GN, renal failure o +/- Renal insufficiency, purpura, neurological dysfunction - Investigations **o cANCA (90%) = PR3 ANCA** o _Necrotising granulomatous_ vasculitis on **pulmonary, sinus or renal biopsy** o CT – nodules, ground glass opacity, mediastinal lymphadenopathy, cavitatory lesions Mx - steroids and cyclophosphamide or biologics

Answer 20

Takayasau arteritis - is a large vessel vasculitis (aorta and major branches) = 'pulseless' disease

Answer 21

Churg-Strauss (former name) = 'eosinophilic granulomatosis with polyangiitis' * Small vessel necrotising granulomatosis (allergic granulomatosis) vasculitis * **pANCA** pos and neg phenotypes (thus sometimes hard to diagnose!) * Associated with _asthma and eosinophilia, rhinosinusitis, nasal polyposis and pulmonary infiltrates_ * Rare in childhood

Answer 22

* Systemic necrotising vasculitis affecting small and medium-sized arteries * Aneurysms and stenoses form at irregular intervals throughout affected arteries * Rare in childhood • Clinical manifestations - Constitutional symptoms - Mesenteric arterial inflammation/ischaemia – abdominal pain, weight loss - Renovascular arteritis – hypertension, haematuria, proteinuria - Cutaneous – purpura, livedo reticularis, ulcerations, digital ischaemia, painful nodules - CNS – CVA, TIA, psychosis - Heart – myocarditis, aneurysms, MI, coronary arteritis • Ix - Anaemia, elevtaed WCC - Incr ESR - anca NEG - Biopsy of lesions

Answer 23

- Small vessel vasculitis - Often preceded by URTI (classically GAS) 4 classic features - Rash – macular -\> purpuric, typically on buttox, extensor surfaces; recurring - Joint involvmenet – arthritis of hips, knees, ankles - Abdo pain - Haematuria – secondary to GN (focal segmental in 80%) Can also have - Oedema * - Intussusception – bloody stools* - Pancreatitis - Ileus Ix - Elevated esr - IgA incr in 50% - May have deranged coags nad plts - _non anca small vessel vasculitis_ Mx - Treat suspected infx - Supportive tx - Renal bx if severe hTN of incr creatinine - Use of steroids in abdo pain is controversial and can mask signs of intussusception Prognosis - 5-10% progress to chronic renal disease (low albumin is sign of poor prognosis)

Answer 24

Autosomal Dominant condition featuring _fragile bones, dentition_ due to defective or reduced type 1 collagen Due to mutations in genes **COL1A and COL1A2** 4 different types - 1 is _mildest_ form; _most common_ - 2 is most _severe,_ often _fatal_ - 3 is assoc w **fractures at birth** and **severe early hearing loss** - 4 similar to 1 Features - Skeletal: - -\> scoliosis, kyphosis etc - -\> _multiple fractures_ before puberty - -\> barrel shaped chest, soft skull - -\> _bowed legs and arms_, _joint hypermobility_ - -\> triangular face, small nose - -\> soft _brittle discoloured teeth_ - -\> _short stature_ - Skin: loose, thin, smooth skin, easy bruising - Eyes: blue-grey sclera - Deafness in 50% from age 20

Answer 25

Wormian bones -\> Osteogenesis imperfecta Also seen in: * Craniosynosisis * Rickets * "Kinky-hair" Menke's syndrome * Hypothyroidism and hypophosphatasia * Down syndrome

Answer 26

Generation of antiphospholipid antibiodies leading to **predisposition towards thrombus formation** -\> clots/strokes Associated with SLE Clinical features - Arterial and venous thrombi - Stroke, Epilepsy, migraine - Budd-chiari syndrome - Livedo reticularis (lace like red rash on exposure to cold), thrombophlebitis, splinter haemorrhages, fingertip ulcers

Answer 27

Osteogenesis imperfecta - blue/grey sclera

Answer 28

Mothers who are anti-Ro positive (70% of sjogrens) can have infants born with congenital heart block (similar to SLE)

Answer 29

Group of connective tissue disorders involving _collagen deficiencies_ -\> hypermobile joints and skin fragility **Clinical features** - Normal at birth - Skin _hyperelasticity_, fragility, _easy bruising_, atrophic *'cigarette paper scars'* - _Hypermobiltiy_, easily dislocated joints 10 different types, each w diff clinical feautres --\> premature birth w PROM --\> _MV prolapse, aortic aneurysm dissection_ --\> bowel or uterine rupture --\> congenital scoliosis and hypotonia --\> congenital hip dislocation