rheum Flashcards
What do Anti-CCP antibodies indicate in rheumatoid arthritis?
A marker of poor prognosis
Anti-CCP stands for Anti-Cyclic Citrullinated Peptide antibodies, which are often present in patients with rheumatoid arthritis.
Imaging for AVN of hip?
MRI
What is McArdle’s disease?
A glycogen storage disorder characterized by repeated cramping, rhabdomyolysis, and myoglobinuria after exercise.
McArdle’s disease is linked to impaired energy metabolism in skeletal muscle.
What are the key symptoms of McArdle’s disease?
Repeated cramping, rhabdomyolysis, myoglobinuria after short bouts of exercise.
These symptoms occur due to impaired glycogen breakdown in muscle cells.
What laboratory findings are associated with McArdle’s disease?
Marked elevations in CK and serum myoglobin.
These elevations indicate muscle damage and impaired energy metabolism.
What enzyme deficiency causes McArdle’s disease?
Myophosphorylase deficiency.
Myophosphorylase is critical for glycogen breakdown in muscle cells.
True or False: McArdle’s disease is caused by a deficiency in an enzyme involved in glycogen breakdown.
True.
The deficiency in myophosphorylase leads to the symptoms observed in McArdle’s disease.
Fill in the blank: McArdle’s disease is a __________ storage disorder.
glycogen.
This disorder affects the metabolism of glycogen in muscle cells.
What is the relationship between McArdle’s disease and exercise?
Symptoms such as cramping and rhabdomyolysis occur after short bouts of exercise.
This is due to the impaired ability to utilize glycogen for energy during physical activity.
HLA B51 association?
Behcet’s disease
HLA B27 association?
Ank spond
HLA DQ2 association?
Coeliac disease
HLA DR4 association?
Rheumatoid arthritis
HLA DRB1 association?
SLE
Antibodies associated with limited (central) systemic sclerosis?
Anti-centromere antibodies
Anti-ds-DNA is diagnostic for?
Systemic lupus erythematosus (SLE)
Anti-Scl-70 antibodies are specific for?
Diffuse scleroderma
Signs of early and progressive disease in RA?
Early - juxta-articular osteoporosis/osteopenia
Progressive - peri-articular erosions
Bone pain, tenderness and proximal myopathy (→ waddling gait)?
Osteomalacia
The presence of anti-Ro antibodies in a pregnant patient with systemic lupus erythematosus leads to an increased risk of?
Congenital heart block (CHB) in the foetus
Anti-Jo-1 antibody?
Dermatomyositis - ‘heliotrope’ rash, Gottron’s papules
Osteogenesis imperfecta occurs due to an abnormality in which type of collagen?
Type 1
Rheumatoid factor is positive and a diagnosis of rheumatoid arthritis is made. What is the most appropriate management to slow disease progression?
Methotrexate + short course of pred
Inflammatory arthritis involving DIP swelling and dactylitis points to a diagnosis of? psoriatic arthritis
Psoriatic arthritis
T score for osteopenia and osteoporosis?
Osteopenia -1.0 to -2.5
Osteoporosis -2.5 or lower
Osteopetrosis is due to a defect in?
Osteoclasts
Ehlers-Danlos syndrome is most commonly associated with a defect in which type of collageb?
Type 3
Patients aged 75 and over with a history of fragility fractures should be considered for treatment with what drug and with/without requiring a DEXA scan?
Oral bisphosphonate without DEXA
Looser’s zones x-ray are most characteristically associated with which condition?
Osteomalacia
De Q synovitis symptoms?
Inflammation of the sheath containing the extensor pollicis brevis and abductor pollicis longus tendons
The most common cause of death in systemic sclerosis is?
Respiratory involvement
Which TB drug can cause drug induced lupus?
Isonazid
Normal Ca and PO4, raised ALP?
Pagets
Arthralgia, salmon pink macpap rash, elevated ferritin, Rf and ANA negative?
Stills
Familial Mediterranean fever (FMF) inheritance?
Auto recessive
How to treat Paget’s?
Bisphosphonates
Child with swollen wrists and disturbance of the metaphyseal region on X-ray? Management?
Rickets - vitamin D
Low calcium and phosphate, raised ALP and PTH?
Osteomalacia
TNF-α inhibitors may?
Reactivate TB
Second line if alendronate not tolerated?
Risedronate
Fundoscopy reveals a swollen, pale optic disc with blurred margins in the right eye?
AION
