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Metabolic and regulatory disorders of musculoskeletal system
อ.นพ. สุ�วิ�ทยา เธี ยรประธีาน สุ�าน�กวิ�ชาแพทยศาสุตร�
Objective
• Gout• Pseudogout• Muscular dystrophy
Gouty arthritis
Epidemiology
• Primary gout = 1.7 : 100,000 / year• Age < 50 yr. M > F• Age > 50 yr. M < F• BMI, Diet, Alcohol, diuretic drug, Lead
poisoning
Purine metabolism
Pathogenesis
Clinical manifestation
1. Asymptomatic hyperuricemia2. Acute gouty arthritis3. Intercritical gout4. Chronic gout tophi
Diagnosis• Gold standard : Joint fluid aspiration
• Lab : serum uric acid level, CBC, ESR, CRP
Polarizing Microscope
Radiographic study
• Useful for chronic tophaceous gout • seagull wing sign
Differential diagnosis
• Pseudogout (CPPD)• Septic arthritis
Associated disease
• Renal disease : Chronic urate nephropathy, Acute uric acid nephropathy, Uric acid nephrolithiasis
• Metabolic syndrome : Hypertension, Obesity, Hyperlipidemia, Insulin resistance, Coronary heart disease, Stroke, peripheral artery disease, Congestive heart disease
Acute gouty arthritis
Single joint Oligo-polyarticular joint
Intra-articular steroid injection or NSAIDs or
Colchicine
Renal or hepatic disease
Normal renal and liver function
NSAIDs Colchicine 0.6 mg * 3
Prednisolone30-60 mg/day thenTaper off in 2 wks.
Solumedrol IM, IV 100-150 mg/d * 1-2 days
Or
ACTH SC, IM, IV 25-40 IU q 12 hrs * 1-3 days
Taking oral medications
UnableAble
High risk for cardiac or GI toxicity
Low risk for cardiac or GI toxicity
Antihyperuricemic therapies
• Uricostatic drugs : Allopurinol*, Oxypurinol, Febuxostat
• Uricolytic drugs : Uricase• Uricosuric drugs : Probenecid**,
Benzbromarone, Sulfinpyrazole***, Losartan, Fenofibrate, Atorvastatin
Controversy
• Asymptomatic hyperuricemia
• Criteria for treatment : 1. At least two gout attacks/
year2. Chronic tophi3. Coexisting illnesses ex.
Nephrolithiasis
Chronic tophi treatment
• **Do not excision**• Biopsy only to confirm diagnosis• Check urine uric acid level 24 hr : Urate
overproduction Vs Urate underexcretion• Control serum uric acid level < 5 mg/dL
ACR recommendation 2012
Pseudogout
Definition
• CPPD (Calcium Pyrophosphate Dihydrate) Crystal Deposition Disease
• Acute form of disease
Common Clinical Presentations
Clinical setting
• Elderly age over 55 years• Mimic to gout• large joint, most often the knee • less often the wrist or ankle • provoked by minor trauma or intercurrent
medical or surgical conditions including pneumonia, myocardial infarction, cerebrovascular accident, and pregnancy.
• Parenteral G-CSF, Bisphosphanate
Natural history
• Chronic case turn to Chondrocalcinosis
Pathogenesis
• The loose avascular connective tissue matrices of articular hyaline cartilage, fibrocartilaginous menisci, and of certain ligaments and tendons are particularly susceptible to pathologic calcification.
• ANKH is clearly implicated in the pathogenesis of familial and idiopathic/sporadic chondrocalcinosis
Diagnosis
• Same as Gout• Positive birefringent• Lab : CBC, ESR, CRP• X-ray for chronic case
Differential diagnosis
• Gout• Septic arthritis• Other crystal arthropathy• Chronic case Rheumatoid arthritis
Treatment
Muscular dystrophy
Introduction
• Progressive muscle weakness• Genetic disease• Effect Dystrophin• Duchenne Muscular dystrophy : Most
common• Becker Muscular dystrophy : Second most
common
Duchene muscular dystrophy
• Most common• Male• 1:3500 live male birth• 1/3 new mutation• 65% family history• Onset : age 3-6 years• Pseudohypertrophy of
calf muscles
Meyeron sign
Diagnosis
• Gait• Gower’s sign• Meyeron sign• Macroglossia• Myocardial
deterioration• IQ ~ 80
• Increase CPK (200x)• Myopathic change
in EMGBx: muscle degeneration
• Immunoblotting: Absence dystrophin
• DNA mutation analysis
Natural history• Progress slowly and
continuously• muscle weakness– lower --> upper
extremities• unable to ambulate:
10 year (7-12)• death from
pulmonary/ cardiac failure: 2-3rd decade
Treatment
• Supportive treatment : Cardiology, Respiratory
• Prednisolone 0.75 mg/Kg/day• Surgery required to stabilize skeletal
structure : Scoliosis• Counseling family for another child • Specific treatment : PTC 124 *, PRO051**