MSI- AI disease seminar Flashcards
A group of diseases that share certain major clinical features.
Key ones are chronic low back pain, positivity with the blood test for the human leukocyte antigen (HLA) B27, and radiographic or MRI changes in the sacroiliac (SI) joints in patients with axial SpA; and (oligo)arthritis, heel enthesitis and dactylitis in patients with peripheral SpA
Spondyloarthritis (SpA)
Examples of spondyloarthritis disorders:
Ankylosing spondylitis, juvenile ankylosing spondylitis, ________ arthropathy, intestinal arthropathy (CD & UC), and sacroilitis
psoriatic
** CLINICAL CHARACTERISTICS OF SPONDYLOARTHROPATHIES **
Pattern of peripheral arthritis: predominantly lower limb, asymmetric
- Enthesitis
Tendency to radiographic sacroiliitis
- Absence of rheumatoid factor / anti CCP
Extra-articular features characteristic of the group (such as anterior uveitis)
Significant familial aggregation
- Association with HLA-___
B27
The criteria for INFLAMMATORY back pain are met if at least four of the following five features are present (and IBP is described as “suggested” in the presence of three of five features):
Onset of back discomfort before the age of 40 years
Insidious onset
Improvement with _________
No improvement with rest
Pain at night (with improvement upon arising)
exercise
** Other associated features - Axial SpA:
Alternating buttock pain
Heel pain caused by enthesitis
__________ is diffuse swelling of digits of toes or fingers, also termed “sausage digits”
Asymmetric arthritis predominantly of the lower limbs
Anterior uveitis (iritis).
Crohn disease or ulcerative colitis.
Psoriasis– Past or present psoriasis.
Good response of pain symptoms to NSAIDs
Family history of SpA– A positive family history is defined as the presence in a first- or second-degree relative of a diagnosis of SpA, uveitis, reactive arthritis, psoriasis, or inflammatory bowel disease.
Dactylitis
How often should a spinal examination be performed in SpA conditions to monitor progress/treatment?
Annually
Investigations in SpA
Routine- FBC, Renal, LFTs, Calcium (esp if on meds)
**___-___ (more common in Caucasians than Black ethnic groups- less than 1%)
Acute phase reactants
Imaging
SI joint X-rays
MRI Whole spine and SI joints if x-ray doesn’t show changes- ASAS protocol (Without NSAID use)
HLA B27
What type of changes might you see on Xray of a patient with AS?
Fused iliosacral joints- Inflammation leads to fusion of the bone, which progresses until there is hardly any gap there
Average age of onset for axial SpA/AS?
26 years
70% of patients affected with this condition are 20-49 years old
Treatment for SpA:
Physiotherapy & exercise
Pain relief: simple analgesics & Anti-inflammatory (NSAIDs)
________ (if peripheral joints affected)
Steroids-oral/intra-muscular/intra-venous
If Spinal disease-Anti-TNF/IL-17 inhibitors agents
Surgery e.g. hip replacement
DEXA-Osteoporosis prophylaxis
DMARDs
An arthritis which develops soon after (1-4 weeks) or during an infection elsewhere in the body, but in which the microorganisms cannot be recovered from the joint.
reactive arthritis
Common organisms that can cause reactive arthritis:
_________ / Gonorrhoea
Shigella / Salmonella / Yersinia / Campylobacter / C.Difficile
Flu
Chlamydia
What is the “reactive arthritis triad?”
Conjunctivitis: discharge, erythema, burning, photophobia
Urethritis: dysuria, urgency, frequency, discharge
Arthritis: Knees, ankles, feet
Nail changes (such as nail pitting) have the strongest association with which type of arthritis?
psoriatic
Features of psoriatic arthritis:
Arthritis may precede the onset of psoriasis / can also be first degree relative with psoriasis
Prevalence 0.04%-0.1%
Sex distribution is equal
** Nail changes have the strongest association with arthritis
Spondyloarthropathy seen in about 5%
__________ joint involvement can be symmetric or asymmetric
Sacroiliac
Psoriatic arthritis can have different presentations/affected joint patterns in the hands.
Categories of Moll & Wright classification
● Arthritis with DIP joint involvement predominant
● Arthritis mutilans
● Symmetric polyarthritis –
indistinguishable from RA (what should be tested when you see this presentation?)
● Asymmetric oligoarticular arthritis
● Predominant spondylitis
anti-CCP
Psoriatic arthritis can have different presentations/affected joint patterns in the hands.
Categories of Moll & Wright classification
● Arthritis with DIP joint involvement predominant
● Arthritis mutilans (bone destruction, very rare)
● Symmetric polyarthritis –
indistinguishable from RA (what should be tested when you see this presentation?)
● Asymmetric oligoarticular arthritis
● Predominant spondylitis
anti-CCP
Tx for psoriatic arthritis
NSAIDs- bridging tx until DMARDs or biologics start working
DMARDs- _________, sulphasalazine, Leflunomide
Biologics- Anti- TNF, IL-17 inhibitors
JAK inhibitors (not a core drug)
Methotrexate
Seronegative Spondyloarthropathy Summary:
Oligoarticular Asymmetrical Chronic inflammatory Sacroiliac involvement \_\_\_\_\_\_\_\_ Uveitis Spinal involvement HLA B27 (and CCP/RF -ve) Dactylitis
Enthesitis
HLA B27 association in white vs black ethnicity?
8% whites, 1% blacks
Takayasu’s and giant cell arteritis are vasculitis conditions affecting _________ vessels
Large
Henoch Schonlein purpura, EGPA and GPA, MPA are vasculitis conditions affecting ________ vessels.
(Eosimophilic Granulomatosis with Polyangiitis, Granulomatosis with Polyangiitis, Microscopic Polyangiitis)
Small
Polyarteritis nodosa, and Kawasaki’s are vasculitis conditions affecting __________ vessels
Medium
Wegener’s granulomatosis, Churg-Strauss vasculitis, microscopic polyangitis, and drug-induced vasculitis are classified as
ANCA-associated
GIANT CELL ARTERITIS
** Age > 50 (Peak age \_\_\_-\_\_\_) ** Caucasian Scalp tenderness and headache (temporal and unilateral) Jaw or limb claudication ** Blindness or diplopia Weight loss, anorexia, fever, night sweats, malaise ** Raised ESR and CRP Biopsy or USS
70-79
Examination features in GCA
** Abnormal Superficial Temporal Artery
Tender
Thickened
_____/_______ Pulsation
Scalp Tenderness
Cranial Nerve Palsies
Vascular Bruits
Asymmetric Pulses
Reduced/ Absent
Visual loss in GCA:
Field Defect Afferent Pupillary Defect Anterior Ischaemic Optic Neuritis Central Retinal Artery Occlusion Diplopia EarlyOphthalmologyReview
** HOW SOON CAN VISION LOSS OCCUR WITHIN ONSET OF SX OF GCA?
Within ONE day
GCA investigations:
FBC, U&Es, LFTs, CRP, ESR.
CXR (can show dilation of the aorta in large vessel vasculitis)
Urinalysis
** ________ artery biopsy- often confirms dx, but not always as it can occur in skip lesions
USS Temporal Arteries (USS limited as it requires a high level of experience and training)
temporal
Next steps when a dx of GCA is strongly suspected?
High dose steroids, straight away! and temporal artery biopsy
Treatment of GCA
** __________ – immediately (tapering regimen)
Uncomplicated GCA (no jaw claudication or visual disturbance)
40mg prednisolone daily.
Evolving visual loss or amaurosis fugax (complicated GCA):
500 mg to 1 g of i.v. methylprednisolone for 3 days before oral glucocorticosteroids.
Established visual loss
60 mg prednisolone daily to protect the contralateral eye.
STEROIDS
A systemic necrotizing vasculitis that typically affects medium-sized muscular arteries, with occasional involvement of small muscular arteries.
Polyarteritis nodosa (PAN)
Clinical manifestations of _____ include
Systemic sx such as fever, malaise, weight loss. Also neuropathy, arthralgias/myalgias, cutaneous sx and renal or GI sx
systemic polyarteritis nodosa (PAN)
_____ is a necrotizing vasculitis that primarily affects capillaries, venules, or arterioles, most commonly manifesting as necrotizing glomerulonephritis and/or pulmonary capillaritis.
Involvement of medium- and small- sized arteries may also be present. Granulomatous inflammation is usually absent.
** ANCA is present in >90 percent of patients with MPA.
Microscopic polyangitis (MPA)
__________ cytoplasmic autoantibodies (ANCA) are associated with granulomatosis with polyangiitis (GPA), microscopic polyangiitis (MPA), eosinophilic granulomatosis with polyangiitis (EGPA, Churg-Strauss), “renal-limited” vasculitis, and certain drug-induced vasculitis syndromes.
In these conditions, ANCA consistently have specificities for either proteinase 3 (PR3) or myeloperoxidase (MPO) but almost never for both.
(If someone presents with sx of vasculitis, you would always order an ANCA, particularly with a lot of systemic sx)
Antineutrophil
Granulomatosis with polyangiitis(previously known as __________)
GPA is a necrotizing vasculitis predominantly involving small- to medium-sized vessels (eg, capillaries, venules, arterioles, arteries, and veins).
It typically produces granulomatous inflammation of the upper and lower respiratory tracts (* COMMONLY AFFECTS THE CHEST) as well as necrotizing, pauci-immune glomerulonephritis.
ANCA is present in >80 percent of patients with GPA.
Wegener’s
Eosinophilic granulomatosis with polyangiitis (Churg-Strauss)
EGPA is an eosinophilic-rich necrotizing vasculitis predominantly affecting small- to medium-sized vessels.
Patients often have chronic rhinosinusitis, ________, and prominent peripheral blood eosinophilia.
ANCA is present in approximately 40 percent of patients with EGPA, usually anti-MPO ANCA.
The presence of ANCA is more frequent in patients with glomerulonephritis.
ASTHMA
Anti-glomerular basement membrane disease:
Anti-glomerular basement membrane (GBM) disease is a vasculitis affecting __________ capillaries, pulmonary capillaries, or both, with basement membrane deposition of anti-basement membrane autoantibodies.
Lung involvement typically causes pulmonary hemorrhage, and renal involvement causes glomerulonephritis with necrosis and crescents.
glomerular
Cryoglobulinemic vasculitis
Cryoglobulinemic vasculitis, previously termed ‘essential cryoglobulinemic vasculitis’, is characterized by the presence of cryoglobulins, which are serum proteins that precipitate in the cold and dissolve upon rewarming.
In this disorder, which is most often due to _______ __ virus infection, cryoglobulin immune complexes are deposited in the walls of capillaries, venules, or arterioles, thereby resulting in inflammation in small vessels. Skin, glomeruli, and peripheral nerves are often involved.
hepatitis C
(Henoch-Schönlein purpura)
Immunoglobulin __ vasculitis is a systemic vasculitis characterized by the tissue deposition of ___1-dominant immune complexes affecting mostly small vessels (predominantly capillaries, venules, or arterioles).
___ vasculitis typically affects the skin and gastrointestinal tract, and often causes arthritis. A glomerulonephritis indistinguishable from ___ nephropathy may be observed.
IgA
Hypocomplementemic urticarial vasculitis (anti-___ vasculitis)
Hypocomplementemic urticarial vasculitis (HUV) is a vasculitis associated with urticaria and hypocomplementemia, and predominantly affects small vessels.
Glomerulonephritis, arthritis, obstructive pulmonary disease, and ocular inflammation may also be observed.
The presence of anti-___ antibodies is one of the most distinctive findings in HUV
C1q
Systemic lupus erythematosus (SLE)
Chronic, relapsing, remitting disease
Broad spectrum of clinical features involving almost all organs and tissues- _____ _______ DISEASE
Prevalence in the UK: 97 per 100,000
F:M= 10-20:1
Peak onset between 15- 40 years
More common and severe in those of Afro-Caribbean, India, Hispanic and Chinese origin living in USA and Europe> Caucasians
CONNECTIVE TISSUE
Two of the most common clinical features of Lupus?
Malar rash and Raynaud’s phenomenon
Features of SLE
** Malar rash Discoid rash Serositis – Pleuritis / Pericarditis Oral ulcers ** Arthritis – non-erosive Photosensitivity Blood disorders Renal disorders ** ANA + anti \_\_\_\_\_ / dsDNA / antiphospholipid abs Neurologic symptoms
Smith
SLE investigations:
Urinalysis (urinary protein:creatinine ratio)
FBC
Urea & electrolytes
** ESR- ELEVATED
** CRP- __________
LFT’s
** Abs: ANA; ENA, Anti0dsDNA, Lupus anticoagulant; Anti C1q
C3, C4 (complement proteins can drop in active lupus)
NORMAL
Non-pharm management of SLE
sun protection; smoking cessation; CVD risk modification; __________ prevention
osteoporosis
Sjogren’s syndrome
Lymphocytic infiltration of _________ glands
** Sicca: Dry eyes (lacrimal gland involvement)
** and xerostomia (salivary gland involvement)
Extra-glandular disease: joint pain, skin disease and pulmonary disease
Fatigue, myalgia
Women more affected than men
exocrine
Test for measuring lacrimal output in suspected Sjogren’s?
Schirmer’s Test
Complications of Sjogren’s syndrome:
Non-Hodgkins __________
Chronic dry eyes (leading to corneal and conjunctival damage)
Chronic dry mouth (leading to dental caries)
Congenital heart block
Lymphoma
Two key sx for suspecting Sjogren’s syndrome?
Dry eyes and dry mouth x 3 months
Sjogren’s syndrome dx: (need 4/6 criteria, incl ONE of the bottom three
Dry eyes > 3 months Dry mouth > 3 months Shirmer's test <5mm/5min Abnl salivary flow test **focal lymphocytic sialoadenditis on lip **biopsy **Anti-\_\_/\_\_\_\_\_\_\_ positive
Anti-Ro/Anti-La
Systemic sclerosis (scleroderma)
Immune activation, vascular damage and excessive deposition of collagen
More frequent in ages 30-50
5:1 female
Antibodies:
anti topoisomerase (anti-______)
Anti centromere (ACA)
anti-RNA polymerase III
ANA
Scl-70
Systemic Sclerosis Clinical Features:
Sclerodactyly Raynaud’s phenomenon Heartburn ** Abnormal nailfold capillaries ** \_\_\_\_\_\_\_\_\_\_\_ Pulmonary arterial hypertension Interstitial lung disease Lower bowel: distension / diarrhea / constipation Renal failure / proteinuria Erectile dysfunction
Telangiectasia
Types of systemic sclerosis:
Types:
Limited = _______ (calcinosis, Raynaud’s, Esophageal dysmotility, sclerodactyly, telangiectasias)
Diffuse= scleroderma proximal to elbows
Overlap syndromes with SLE / Sjogren’s
Sine scleroderma
CREST
Myositis: Muscle inflammation
The idiopathic inflammatory myopathies (IIMs) include __________ (DM), polymyositis (PM), myositis as part of a rheumatic disease overlap syndrome, myositis of the antisynthetase syndrome, immune-mediated necrotizing myopathy (IMNM) and inclusion body myositis (IBM).
dermatomyositis
Sx of myositis:
Patients presenting with evidence of muscle weakness.
Patients usually report a history of the _________ or subacute development of the muscle weakness, with gradual worsening over a period of several months before medical attention is sought.
Patients may describe increasing difficulty climbing stairs, getting up from a chair, carrying heavy groceries, or picking up their children due to the proximal muscle involvement.
insidious
Patients with classic ____________ (DM) typically present with symmetric muscle weakness, elevated muscle enzymes, and characteristic cutaneous findings.
Antinuclear antibodies (ANAs) may be present, and some patients have DM-specific autoantibodies, such as anti-Mi-2, among others.
Notably, myositis-specific antibodies are present in only 20 to 40 percent of patients with DM, and hence are not required to make a diagnosis of DM.
Increased risk of malignancy.
dermatomyositis
Skin changes associated with dermatomyositis (DM) include pathognomonic findings such as \_\_\_\_\_\_\_\_ papules (pink-violaceous papules overlying interphalangeal and metacarpophalangeal joints), \_\_\_\_\_\_\_\_\_ sign (macular, pink-violaceous erythema overlying other joints, such as the elbows or knees) and the heliotrope eruption (pink-violaceous erythema, with or without edema, involving the periorbital skin) Pink-violaceous erythema of the scalp, V of the neck, shoulders, extensor surfaces of the upper extremities, upper chest, and upper back are additional characteristic findings.
Gottron’s
Violaceous erythema on the periorbital skin/ heliotrope eruption is a sign of
dermatomyosititis
Patients presenting with weakness and elevated muscle enzymes in the absence of characteristic cutaneous findings of DM present a more difficult diagnostic challenge as there are no specific cutaneous findings of other IIMs and diagnostic serologic tests are less likely to be present.
polymyositis
This type of myosititis is similar to dermatomyositis, but without the skin changes. Not associated with malignancy
polymyositis
__________ syndrome group is defined by the presence of an antibody directed against one of several aminoacyl-transfer RNA (tRNA) synthetases.
Clinical findings include inflammatory myopathy and extramuscular findings including interstitial lung disease, “mechanic’s hands”, inflammatory arthritis, and Raynaud phenomenon.
Onset is often more acute than in primary DM.
There does not appear to be an increased risk of malignancy in this group.
Antisynthetase syndrome
Inflammatory myopathy may occur in the setting of another systemic rheumatic disease such as systemic lupus erythematosus (SLE), systemic sclerosis (SSc; scleroderma), mixed connective tissue disease (MCTD), and, less often, rheumatoid arthritis (RA) and Sjögren’s syndrome (SS). Thiis is known as
overlap syndromes
Inclusion body myositis:
Although classified with the IIMs, IBM has epidemiologic, clinical, and histopathologic findings that distinguish it from the other IIMs.
IBM affects older individuals, more commonly men. It generally has a more insidious onset and slower progression than the other inflammatory myopathies.
The distribution of weakness tends to be more ______ in the upper extremities and less symmetric.
distal
Other notes:
Non inflammtaory
Weakenss more distal than prox
Differentiate with a biopsy
Investigations of myositis
Most patients with IIM will have an elevation of one or more of the muscle-derived enzymes, creatine kinase, lactate dehydrogenase (LDH), aldolase, aspartate aminotransferase (AST), and alanine aminotransferase (ALT).
_______ _________ is the most sensitive muscle enzyme and is the one most commonly tested for and followed.
Creatine kinase
What antibody is commonly seen in anti-synthatase syndrome?
Jo 1
Other investigations for myositis:
Electromyography
MRI
** Muscle _______ will confirm dx and subtype
biopsy
Treatment for vasculitis and myositis:
_________
DMARDs
Cyclophosphomide
Rituximab
Steroids
