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- lung, esophagial, breast, colon, ovarian
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
These crystals exhibit positive birefringence when viewed under polarized light microscopy. - low magnesium, low phosphaste,
Psoraiatic arthritis
Joint Involvement:
Pain, swelling, and stiffness: These are the hallmark symptoms, affecting one or more joints.
Dactylitis, Enthesitis, Spondylitis, Morning stiffness
Skin and Nail Changes:
Psoriasis: Red, scaly, inflamed patches of skin, often on the scalp, elbows, or knees.
Nail changes: Pitting, discoloration, thickening, or separation of the nail from the nail bed.
Other Systemic Manifestations:
Fatigue, Eye inflammation, Inflammatory bowel disease, Neurological complications
HLA-B27.
RF and Anti-CCP
CASPAR criteria consist of confirmed inflammatory articular disease (joint, spine, or entheseal) with at least 3 points from the following features: current psoriasis (assigned a score of 2 points; all other features are assigned a score of 1), a history of psoriasis or a family history of psoriasis
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 (paternal safe)
- IgM reacts with fc portion of IgG , IgM, IgG, IgA, IgE, and IgD.
- Felty’s syndrome 100%
Sgjogren’s Enfective Endocarditis, Scleritis/episcleritis, autoimmune inflammatory disorders - 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
Gout crystals are composed of monosodium urate (MSU) and needle-shaped and appear yellow under polarized light, negative birefringence.
- 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
Systemic Sclerosis/ scleroderma
characterized by vascular damage, autoimmunity, and excessive tissue fibrosis. It involves an overactive immune system, leading to the production of too much collagen and scarring in various tissues
Multiple factors involved
Skin Thickening (Sclerodactyly) - prominent feature
causes raynoid’s - 950%
Calcinosis:
Calcium deposits can appear as hard lumps under the skin, often on the fingertips.
Telangiectasia
Small intestinal bacterial overgrowth - 40% of patients.
Systemic sclerosis affects the small intestine, causing reduced peristalsis and small bowel dilatation, resulting in alterations in the small bowel bacterial flora. Features include loose stools, steatorrhoea, malabsorption, abdominal discomfort and flatulence.
Lungs: Interstitial lung disease (ILD) PAH) - leading to shortness of breath, cough, and eventually respiratory failure.
Heart: -pericarditis, cardiomyopathy, or conduction abnormalities.
Kidneys: Scleroderma renal crisis (SRC)
SSc is associated with a high mortality rate, especially due to cardiopulmonary complications.
**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, cardiac - 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.
cancer risk - ductal carcinoma, breast cancer, osteosarcoma
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