Rheumatology Flashcards
Antibody associated with dermatomyositis
What is highly specific
Anti -Jo-1
a rare disease that causes muscle inflammation and skin rash (heliotrope rash - eye , Gottron’s papules, Shawl sign, V-sign, )
Muscle Manifestations (Muscle weakness, pain and tenderness, disphagia, Respiratory difficulties) - Mitax score
Systemic Symptoms - Fatigue, Raynaud’s phenomenon, Arrythmia
ANA positive
High - CK, AST,ALT, immunoglobulin, (LD or LDH,
low - C3, C4,
systemic inflammation - Fever, CRP, ESR
malignancy risk
Treatment - Corticosteroids, Immunosuppressants - azathioprine, methotrexate, and mycophenolate mofetil, Rituximab
Anti Mi 2 (highly specific)
**Pseudogout **risk factors
- Age>60
- Haemochromatosis
- Hyperparathyroidism
- Low magnesium low phosphate
- Acromegaly, Wilson’s disease
4 H’s”: Hemochromatosis, Hyperparathyroidism, Hypomagnesemia, and Hypophosphatasia
Pseudogout
1. pathophysiology
2. etiology
- Weakly positively birefringent rhomboid shaped crystals
Linear calcification of meniscus and articular cartilage
Calcium pyrophosphate (CPP) crystals are the hallmark - low magnesium, low phosphaste,
Psoraiatic arthritis
Reactive arthritis
An inflammatory arthritis triggered by infections, manifests with joint pain, swelling, and stiffness, often in the lower body, along with potential eye inflammation, urinary problems, and skin rashes
Joint and Muscle Symptoms: Arthritis, Enthesitis, Dactylitis, Low back pain, Sacroiliitis, Tendinitis
Eye Symptoms: Conjunctivitis, Uveitis
Genitourinary Symptoms: Urethritis, Cervicitis, Prostatitis
Skin Symptoms: Skin rash: Red, raised bumps, often on the palms or soles of the feet (keratoderma blennorrhagica).
Circinate balanitis: Small, circular ulcers on the penis.
Psoriasiform lesions: Scaly, reddish patches on the skin.
Other Symptoms: Fatigue, Fever, Mouth ulcers,
Diarrhea
Genetic marker HLA-B27
Treatment - NSAIDS, corticosteroids, and disease-modifying antirheumatic drugs.
Approximately 30% to 50% - chronic ReA.
Rheumatoid arthritis
1. associated common cormobodity
2. Safe drug for pregnancy
3. rheumatoid factor
4. assoiciated conditions
5. poor prognosis factors
6. promoting inflammation markers
- Ischemic heart disease
- Sulfasalezine, HCQ
- IgM reacts with fc portion of IgG , IgM, IgG, IgA, IgE, and IgD.
- Felty’s syndrome 100%
Sgjogren’s Enfective Endocarditis - Female, young male, insedious onset, rheumatoid factor +, Anti CCP +, HLA dr4 +
- TNF alpha, - the immune system mistakenly attacking the joints, leading to the release of inflammatory chemicals like cytokines (TNF-α, IL-6, IL-1) and the formation of rheumatoid factors, which cause joint damage and pain
- RA growth factors - Vascular Endothelial Growth Factor (VEGF), Fibroblast Growth Factor (FGF), and Connective Tissue Growth Factor (CTGF).
popliteal cyst/ Baker’s cyst - fluid-filled sac, in the popliteal fossa
Vitamin D replacement
- Reducing factors
- If levels are low _ loading dose and then maintaining
Don’t replace calcium if serum calcium normal - Malabsorption
- Sunlight
- Raised PTH
**Adults onset stills disease **
1. aetiology
2. Diagnostic features
3. Clinical manifestations
4. Treatments
mild
Severe
- Monitoring regular
- Unknown
- Clinical manifestations
Ferritin level - 80% sensitivity
Inflammatory markers high - Fever, Mp rash, myalgia, arthralgia, pruritis, pericarditis, lymphadenopathy, splenomegaly
Common presentation- fever, rash- salmon pink, arthritis or arthralgia - Mild diseases - NSAIDS+/- glucocorticoids
Severe / moderate-
* Ankinra - without joint erosions
* Methotrexate - prevalent joint disease
* Second line - 20 - 60 mg prednisone
IM steroids + methyl prednisone 100mg up to 3 days for MAS / refractory symptoms/ arthritic disease
Macrophage activation syndrome (MAS) - present as Fever, Cytopenia, Hyperferritinemia, Hepatosplenomegaly, Lymphadenopathy, Hepatitis, Coagulopathy, Headaches, Mental status changes, and Seizures -
- CBC, BUN,AST, ALT, blood
Gout
A. Long term management’s
B. Conditions need of long term prophylaxis
C. Precipitating drug
A.
1. Life style _ alcohol stop
2. Urate level <.3
Avoid thiazide
alopeurinol, ( xanthine oxidase inhibitors) - cannot give in acute attack, First line treatment for gout with major cardiovascular disease
acute attack- colchesin, NSAIDS
Adverse effect - SJS
Feboxostat
Probenecid - can develop urate stones
Rasburicase - used in tumourlysis syndrome
B. Long term prophylaxis- renal impairment
Leukaemia, lymphoma, Leasch-Nihan, psoraiasys, lead toxicity,
C. Ciclosporin, alcohol, PYZ, Aspirin,
Tumour necrosis factor
Macrophages
**Gout diagnosis **
1. Acute
2. Chronic
- Acute joint pain - big toe, foot, ankle, knee,
Urate crystals - gold standard of diagnosis
MTP joint involvement
Rapid onset
Joint swelling and tenderness
Self limiting and complete resolution - Chronic
History of acute attacks
Presence of tophi
Asymmetrical joint swelling
Double contour sign
Mixed connective tissue disorder
Anti -U1RNP
Septic arthritis suspect?
Hot swollen joint
Adult - knee
synovial fluid analysis being the gold standard. A high white blood cell count (WBC) in the synovial fluid, especially with a predominance of neutrophils, strongly suggests bacterial infection
prompt treatment requied, but untreated, it can lead to severe joint damage and potentially life-threatening complications
Sudden, severe joint pain, Swelling and warmth,
Limited range of motion, Fever (50%), Redness
Neisseria gonorrhoeae - young adult sexually active - Peri artiritis with dermatitis - mygratory polartalgia, fever , tenosynovitis
Sickle Cell - Salmonella
Staphylococcus aureus (staph) is the most common cause
**PXE **
1. Associated symptoms
Autosomal recessive
Retinal angioid
IHD
MVP
GI haemorrhage
Most common cause for raynoid’s
Systemic scleroderma
**Psoriatic A **
1. Most common type
2. Treatment
- Symmetric polyarthritis
- Last option - Apremilas
**Marble bone diseases **
1. Features
- Increase bone density , defect in osteoclasts
Temporal arteries GCA
1. Features
2. Treatments
severe disease
3. Associated illnesses
4. Biopsy positive
- headache, jaw, elderly female
- Steroid
severe disease - 500 to 1000 mg of IV methylprednisolone for 3 days
(GCA and evidence of cranial ischemia or established or threatened vision loss, diplopia) - AION ( PCA of ophthalmic artery)
PMR (50% cases) - Only 50%, sampling in unaffected area
**SLE **
1. features
2. Associated with CHB which cross placenta
3. treatment for discoid SLE
- Fatigue, fever , mouth ulcers, lymphadenopathy
Skin, musculoskeletal, renal, - Anti - Ro
- topical steroids, oral HCQ
LGC histiocytosis
- Presents
- Recurrent otitis media
Skin rash , lytic bone lesions, Birbeck granules
Behcets
1. manifestations
2. epidimiology
3. gene
- oral ulcers, gential ulcers, anterior uveitis
- meiteranian, men
- HLAB51
- diagnosis - recurrent oral ulcers plus at least two of: recurrent genital ulcers- aphthous, or herpetiform oral ulceration, eye lesions, skin lesions, or a positive pathergy test.
- corticosteroids, immunosuppressants, or biological therapies
Osteomalasia
1. clinical features
2. causes
- low serum Ca,low Po, High ALP, high PTH
proximal myopathy,
bone pain, muscle weakness, and difficulty walking, often accompanied by an increased risk of fractures.
2 . Celiac disease, D vitamin, D ressist Rikets, liver disease, CKD
can develop at any age
X-rays- loosers zone
Genetic Disorders:
Hypophosphatemic Rickets, X-linked Hypophosphatemia (XLH, X-linked Hypophosphatemia (XLH),
Treatment - hypophosphatemic rickets, a combination of phosphate supplements and a special form of vitamin D
others- vitamin D
hypoparathiridism
1. clinical
- high Po, ALP normal, low Ca2+
Paget’s
1. clinical
2. epidimiology
- ALP high, CRX, NTX, PINP all high
Ca, Po, normal
hearing loss, skull - Leontiasis Ossea, hips, involved - nordic, white, male, older
increased and disorganized bone turnover, where excessive bone resorption by osteoclasts is followed by abnormal bone formation by osteoblasts, leading to enlarged, weakened, and deformed bones.
increased bone resorption, osteoblasts (cells responsible for bone formation)
Mosaic Pattern: The presence of irregularly shaped bone particles, a hallmark of Paget’s disease.
risk factors - nordic, age, wood-fire heating, smoking, measles, paramyxovirus, and respiratory syncytial virus, lead and cadmium, calcium and vitamin D dieficiency, genes like SQSTM1, TNFRSF11A, and TNFRSF11B - autosomal dominant pattern
renal failure
low Ca, high Po, ALP raised
Antiphospholipid syndrome
1. featurs
2. associations
3. inveatigations
- V/ A thrombosis, recurrent miscarriages, livedo reticularis, pre-eclamsia, PH,
- Infections
Hepatitis C, Human immunodeficiency virus (HIV), etc
Autoimmune disorders Lupus, Sjogrens syndrome, Thyroid disease, Rheumatoid arthritis, and Celiac disease
Raynaud’s, Kidney failure, Stroke, Heart damage, Pregnancy complications, and Multiple organ damage
cancers, PE - anticardiolipin, anti-beta2 GPI, lupus anticoagulant, thrombocytopenia, prolonged APTT
McArdle disease
1. mechanism
2. clinical features
3. Second wind phenomenon
- glycogen storage disease type 5 (GSD 5). autosomal ressesive
- Muscle pain and fatigue, especially during exercise
Muscle cramps
Muscle weakness
Brownish red urine
3.
radial tunnel syndrome
1. causes
- Causes Repetitive grasping and lifting activities and Tightness and swelling in the radial tunnel.
trochanteric bursitis
1. clinical features
- lateral hip pain, typically aggravated by physical activity, and point tenderness adjacent to the greater trochante
Ehlers-Danlos syndrome (EDS)
1. genetic
2. clinical manifestations
- autosomal dominent - collagen 3
- Hypermobile joints that may dislocate
Soft, fragile skin that bruises easily, flat feet, dentsl issues, muscle weakness
Methotrexate
1. action
- DHF reductase inhibiotor
AS
1. X ray features
- Squaring, bamboo spine, Syndesmophytes (commonest), Shiny corner sign,
osteoarthritis
1. treatment
in order
1. non-pharmacological treatments &
support therapeutic exercise
2. topical non-steroidal
3. oral NSAID + gastroprotective
4. intra-articular corticosteroid
injections for short-term relief
no paracetamol, opioids, glucosamine
osteopetrosis
1. signs
- that weakens bones, making them fragile and prone to fractures, often developing silently until a fracture occurs, particularly in the hip, spine, or wrist.
LRP5, WNT16, and others that are linked to bone health and fracture risk
Marfan Syndrome
1. common gene mutation
- FBN1
Earliest features of ankylosing spondylosis
Reuced lateral flexion
Reduced forward flexion - shobers test
Reduced chest expansion
PAN
1. Etiology
- associated with Hep B
Sjogrens Disease
1. inclusion criteria
Labial salivary gland with focal lymphocytic sialadenitis and a focus score† of ≥ 1
Anti-SSA antibodies (anti-Ro)
Ocular staining score‡ ≥ 5 (or van Bijsterveld score ≥ 4) in at least 1 eye
Schirmer test ≤ 5 mm/5 min in at least 1 eye
Unstimulated whole saliva flow rate ≤ 0.1 mL/min§
Patients who fulfill the following exclusion criteria do not have primary Sjögren syndrome:
History of radiation treatment to the head and neck
Active hepatitis C infection (confirmed by polymerase chain reaction)
Advanced HIV infection
Sarcoidosis
Amyloidosis
Graft-vs-host disease
IgG4-related disease
Sjogrens Disease
1. systemic management
2. Associated risks
- Hydroxychloroquine, DMARD
- Lymphoma
large vessel Vas
- GCA
- Taka
Medium Ves vas
PAN
Kawasaki
small vessel vas
ANCA positive
Veg
Microscopic polyangitis
Immune complex Vas
GPS
HSP
L5 Supply
dorsal foot
Risk of ONJ drug?
IV bispohospehnate for cancer
dural actasia in Marphans
presentation
headache, urine incon, leg pain
drug induced lupus
1. complications
2. 2. drugs
- rash, arthralgia, myalgia, ANA +(100%), Anti Histone antibody (90%)
- inh, PHY,Procan, HRDLZ
SERM
Polymyalgia rheumatica (PMR)
pain and stiffness, primarily in the shoulders, neck, and hips, develops quickly, Fatigue (extreme tiredness), Loss of appetite, Weight loss, Fever (sometimes), Depression or feeling unwell., no muscle weakness, anemia
50- 70 F>M
recover with steroids (along with Vit D, Calcium, bisphosphonates)
ESR, CRP positive
a large vessel vasulitis
Associate with GCA overlap syndrome
Ankylosing spondylitis (AS)
manifests as chronic back pain and stiffness, especially in the morning or after inactivity, often accompanied by fatigue and pain in other joints or where tendons attach to bones
18y - 40 y , HLA-B27 genetic risk factor, M>F
Axial Spondylitis (Spine Involvement) - Back Pain and Stiffness, Sacroiliitis, Kyphosis,
Peripheral Arthritis (Joint Involvement), - oint Pain and Swelling, Enthesitis, Dactylitis
Extra-Articular Manifestations (Organ Involvement) - Uveitis, IBD, Cardiovascular(Aoritic Regurgitation, AV bock ), Pulmonary(Apical Pulmonary Fibrosis-), Skin rashes, especially psoriasis
diagnosis - at least 3 months of lower back pain that gets better with exercise and doesn’t improve with rest, X ray (MRI for pogression / early disease )
tramline” or “bamboo spine” appearance on X-rays refers to the fusion of vertebrae and the formation of new bone (syndesmophytes) along the spine
Treatment - NSAIDS, TNF inhibitors, Interleukin-17 (IL-17) inhibitors, Exercises & physical training, Adelilumab, Etternest, Infliximab
poor progonistic - ESR<30, Agee <16, Ealry Hip/lumbar, ductilitis
Primary Raynaud’s,
a common condition where blood vessels in the fingers and toes temporarily constrict in response to cold or stress, causing color changes and potential numbness or coldness
Cause: Occurs on its own, without any underlying medical condition, first degree relative with Reynauds
less severe
ages of 15 and 25.
resolve on their own.
color change to the affected areas (white, then blue, then red
Secondary Raynaud’s (Raynaud’s Phenomenon):
underlying medical condition, such as an autoimmune disease, medication, or injury.
more serious lead to ulcers or tissue damage.
appear later in life, around age 40.
Progression:digital ischemia, tissue necrosis, and gangrene.
Associated Conditions:
Often associated with autoimmune conditions like scleroderma- 95%, lupus, rheumatoid arthritis, and Sjogren’s syndrome.
Treatment: underlying condition, and medications like calcium channel blockers
color change to the affected areas (white, then blue, then red).
Giant cell arteritis (GCA)
a chronic inflammatory condition affecting large and medium-sized arteries, particularly those in the head and neck, that can lead to serious complications like vision loss if left untreated
Symptoms of Giant Cell Arteritis:
Headaches: Often severe and located in the temple area.
Scalp Tenderness: Pain or sensitivity when touching the scalp.
Jaw Pain: Pain or stiffness when chewing or talking.
Visual Disturbances: Sudden vision loss or double vision, which can be a serious complication.
Flu-like Symptoms: Fatigue, fever, weight loss, and loss of appetite.
Other Symptoms: Neck or shoulder pain, and in some cases, pain in the arms or legs.
Systemic Features: Fever, fatigue, anorexia, weight loss, and depression.
Diagnosis:
Temporal Artery Biopsy: A biopsy of the temporal artery is the most definitive test for GCA.
Blood Tests: Blood tests can help identify signs of inflammation.
Imaging Studies: Imaging techniques like CT or MRI scans can help assess the extent of the inflammation.
Giant cell arteritis (GCA), associated arteritic anterior ischemic optic neuropathy (AAION)
Symptoms: AAION typically presents with sudden, often painless, vision loss, which can be severe and potentially lead to blindness if left untreated
arteritic posterior ischemic optic neuropathy (A-PION - less common
high-dose corticosteroids
apical pulmonary fibrosis ankylosing spondylitis
bilateral apical fibrobullous lesions and can lead to symptoms like cough, dyspnea, and sputum production in advanced stages.
lead to progressive fibrosis, nodular coalescency, cysts, cavities, and bronchiectasis
Anti-TNF therapy contraindications
active infections, untreated latent tuberculosis, pre-existing demyelinating diseases, current malignancy, or severe congestive heart failure, Hepatitis B, Pregnancy,
Sjögren’s syndrome
dry eyes and mouth due to inflammation and destruction of the tear and saliva glands, but can also involve systemic symptoms like fatigue, joint pain, and dry skin
antibodies - Anti-Ro/SSA and Anti-La/SSB
gene - HLA-DR and HLA-DQ alleles. IRF5
Thoracic outlet syndrome (TOS)
where nerves or blood vessels in the area between your neck and shoulder (the thoracic outlet) are compressed, leading to symptoms like pain, numbness, and tingling in the neck, shoulder, arm, and hand. cold, swelling, blanching, dissapiarance of pulse when abduction
Takayasu’s arteritis,
rare type of vasculitis that causes inflammation of the large arteries, primarily the aorta and its major branches, potentially leading to narrowing, blockage, or weakening of the artery walls.
Japanese female 20-40
Lateral epicondylitis, tennis elbow
a painful condition characterized by pain and tenderness on the outside of the elbow, often caused by overuse or repetitive strain of the forearm extensor muscles
CREST syndrome
limited cutaneous systemic sclerosis, is a subtype of scleroderma characterized by the features: calcinosis, Raynaud’s phenomenon, esophageal dysfunction, sclerodactyly, - claw-like” appearance, and telangiectasia.
anti-centromere antibodies are a hallmark of CREST syndrome, other autoantibodies, such as anti-Scl-70 (anti-topoisomerase I), are more commonly associated with diffuse scleroderma,
Granulomatosis with polyangiitis (GPA)
chronic inflammatory disease characterized by vasculitis (inflammation of blood vessels) and granulomas (clusters of immune cells) that can damage organs, particularly the lungs, kidneys, and upper respiratory tract. sinusitis, nosebleeds, crusting, cough, shortness of breath, Kidney Problems, Skin Ulcer, rashes
antineutrophil cytoplasmic antibodies (ANCAs), specifically those targeting proteinase 3 (PR3
common in 40 and 65 years
HLA-DPB1 gene, PTPN22 and CTLA4
diagnosis - upper and lower respiratory tract involvement, renal involvement, and constitutional symptoms, along with the presence of anti-neutrophil cytoplasmic antibodies (ANCA).
Corticosteroids, Cyclophosphamide, Rituximab
Long-term complications are common (86%), mainly chronic kidney failure, hearing loss, and deafness
De Quervain’s tenosynovitis
ainful swelling around your thumb tendons
caused by repetitive motion
de quervain tenosynovitis and osteoarthritis
enosynovitis involves tendon inflammation, while osteoarthritis affects the joints themselves.
Kocher Criteria (for children with suspected septic arthritis of the hip):
Non-weight-bearing: The child is unable or unwilling to bear weight on the affected leg.
Temperature > 38.5°C (101.3°F): The child has a fever.
ESR > 40 mm/hr: The ESR is elevated.
WBC > 12,000 cells/mm3: The WBC count is elevated
Fitz-Hugh-Curtis Syndrome (FHC),
a perihepatitis linked to pelvic inflammatory disease (PID)
often associated with chlamydial or gonococcal infections
presents with right upper quadrant abdominal pain
increased risk of tuberculosis (TB) reactivation from RA
- RA itself can lead to a weakened immune system
- Immunosuppressive therapies, particularly anti-TNF drugs increase the risk of TB reactivation. Rituximab
- Tofacitinib, a Janus kinase inhibitor, has also been associated with an elevated risk of TB reactivation
