Musculoskeletal manifestations of Systemic Disease Flashcards
Hypophosphatemic vitamin D resistant rickets
- Impaired PTH dependent proximal renal tubular reabsorption of phosphate
- Leads to low serum phosphorus levels with a normal Ca level
- X linked or autosomal dominant
Vitamin D Def Rickets
- Insufficient vitamin D intake or failure or liver or kidney to convert vitamin D to appropriate form
Calcium deficiency rickets
Insufficient intake, or impaired absorption (celiac, IBD, scleroderma, liver disease)
Type 1 Vitamin D Dependent Rickets
- Defect in renal 1 alpha hydroxylase leading to failure to hydroxylate 25 OH–> 1, 25 OHD (active form)
- Autosomal recessive
Type 2 vitamin D dependent Rickets
- End organ unresponsiveness to 1, 25 OHD
- Also have alopecia and absent eyelashes
Hypophosphatasia
- Low serum alk phos
- Autosomal recessive
- Also have band keratopathy, proptosis, papilledema, loss of teeth, pseudogout
Rickets manifestations
- Joint pain and bony tenderness
- Bowing of long bones, splaying of rib cage, rachitic rosary
- Proximal muscle weakness particularly of LE
- defective bone growth from suppression of calcification and maturation of epiphyseal cartilage
Albright’s hereditary osteodystrophy
- Pseudohypoparathyroidism
- Diminished urinary cyclic AMP response to PTH
- Round facies, short stature, short 4th metacarpal, obesity, subcut calcifications, dev delay
- Labs: hyperphosphatemia, hypocalcemia, secondary hyperPTH, hyperPTH bone disease (osteitis fibrosa)
Scurvy
- Vitamin C def
- Poor collagen synthesis with intradermal, gingival and sub periosteal hemorrhage leading to severe bone pain and hemarthrosis
Hypervitaminosis A
- Pain in extremities, irritability, apathy, alopecia, delayed growth
- Cortical hyperostosis (metatarsals, ulna, spine) abnormal epiphyseal growth and periosteal new bone apposition
Type II familial hypercholesterolemia
Achilles, patellar, extensor tendon xanthoma with recurrent acute migratory polyarthritis
Type IV (hypertriglyceridemia)
- Hands, knee and ankles with mild chronic or migratory oligoarthritis
- Onset often acute with fever and elevated WBCs
- Arthritis is self -limited but may be misdiagnosed as septic joint or acute rheumatic fever
Ochronosis (alkaptonuria)
- Autosomal recessive defect in homogentistic acid oxidase resulting in accumulation of homogentisic acid
- Pigmentation of cartilage (ears, sclera, heart valves), black urine, calcification and ossification of intervertebral disks, accelerated osteoporosis and osteoarthritis
Thalessemia minor
- Anemia
- HSM
- Recurrent, brief episodes of joint pain, swelling and effusion, particularly of ankles
Beta Thalessemia
Bone pain
Kashin Beck (Urov) disease
Cause: fusarium mycotoxins in fungus infected grain or from selenium or iodine def
Symptoms: Symmetric polyarthritis and progressive enlargement and limited ROM of multiple joints; morning stiffness, muscle aches, weakness are initial symptoms; eventually results in dwarfing, epiphyseal deformity and short digits
Radiography: irregular erosions of small bones of hands and feet
Mseleni disease
- South Africa
- Onset of joint pain in childhood
- Limited ROM
- Mild stunting of growth common, can lead to severe dwarfism
- Hips, knees and ankles are predominant sites
Morquio disease
- Normal IQ
- Presents with effusion of large joint (knee) and progressive MSK stiffness by age 3 or 4
- Small joints of hands become enlarged and stiff, valgus deformity of the knees develop, gait becomes stiff and waddling
- Most joints hypomobile but some joints like wrists may enlarge but hypermobile
- Pectus deformity and barrel chest
- Severe dwarfism
- Platyspondyly and odontoid hypoplasia
Scheie
- Normal IQ and stature preserved
- Progressive restricition of ROM of hands, elbows and knees without swelling or pain
- Corneal clouding and cardiac valvular disease in adulthood
- APR normal
- Urinary excretion of dermatan sulfate increased
- Decreased enzymatic activity of a-L-iduronidase
Farber Lipogranulomatosis
- Hoarse cry, irritability
- Painful red masses along tendon sheaths, over pressure points and around the joints
- Nodules in conjunctivae, ears, nares
- Delayed motor development and retardation
- Epiglottal and laryngeal swelling resulted in repeated pulm infections and death around 2 years
Gaucher disease
- HSM
- Pathological fractures of the femur
- Premature osteoarthritis
- Widening of distal femur on xr
Fabry
- Chronic pain
- Recurrent fever
- Severe burning pain in extremities, hands and feet and distal arthritis
- Diarrhea and belly pain
- Hypohidrosis, heat and cold intolerance
- Osteoporosis and osteonecrosis
- Rash with purple papules
- renal, cardiac, or cerebral disease leads to death in adulthood if untreated
Multicentric reticulohistiocytosis
- Rare, mutilating symmetric poly
- Stiffness and contractures
- Clear histiocytic cuteanous nodules
Type I Glycogen storage disease (von gierke, glucose 6 phosphatase def)
- Stunted growth, HSM, progressive mental retardation
- Abnormal plt function, hypoglycemia, hyperuricemia
- May have gouty arthritis or tenditinitis in childhood
Diabetic cheiroarthropathy
- Stiff hand syndrome
- Flexion contractures, typically in PIPs of the 4th and 5th fingers, may also have in other fingers, wrists, elbows, ankles, toes and spine
- Child usually unaware of joint limitations and has no pain
- Prevalence increases with duration of disease but not disease severity or lack of control
Thyroid acropachy
- Rare form of hyperostosis of the phalanges, metacarpals, and metatarsals associated with hyperthryoidism, pretibial myxedema, exophthalmos, and clubbing
Cystic fibrosis associated arthropathy
- Episodic arthritis lasting 1-10 days and recurring at intervals of weeks to months
- Associated with pruritic, nodular rash
- May be a reaction to chronic bacterial infection
- Treat NSAIDs
Hemophilia
- Hemarthrosis is a hallmark
- Factor VIII def
- Knees, ankles, elbows most common
Whipple disease
- Caused by Tropheryma whipplei
- Abd pain, weight loss, diarrhea, and arthralgia/arthritis that may precede other clinical signs by several years
- Migratory peripheral joint pain and inflammation lasting hours to months often associated with fatigue, weight loss, and anemia
- Diagnosis with PAS staining or PCR
