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Questions and Answers
What is a common characteristic of rheumatoid arthritis joint involvement?
What is a common characteristic of rheumatoid arthritis joint involvement?
Which biomarker is associated with rheumatoid arthritis?
Which biomarker is associated with rheumatoid arthritis?
What is the primary cause of Osteogenesis imperfecta?
What is the primary cause of Osteogenesis imperfecta?
What is the primary aim of rheumatoid arthritis treatment?
What is the primary aim of rheumatoid arthritis treatment?
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Which of the following is a common treatment for osteoporosis?
Which of the following is a common treatment for osteoporosis?
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Which metabolic bone disorder is characterized by softening of the bones often due to vitamin D deficiency?
Which metabolic bone disorder is characterized by softening of the bones often due to vitamin D deficiency?
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What is the primary reason for the high prevalence of developmental hip dysplasia in girls?
What is the primary reason for the high prevalence of developmental hip dysplasia in girls?
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What causes secondary osteoporosis?
What causes secondary osteoporosis?
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What distinguishes osteomalacia from osteoporosis?
What distinguishes osteomalacia from osteoporosis?
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Which of the following is NOT a common clinical manifestation of rheumatoid arthritis?
Which of the following is NOT a common clinical manifestation of rheumatoid arthritis?
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Which group of individuals is most susceptible to osteoporosis?
Which group of individuals is most susceptible to osteoporosis?
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Scoliosis is classified based on what criterion?
Scoliosis is classified based on what criterion?
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Which term describes the vascular granulation tissue formed due to inflammation in rheumatoid arthritis?
Which term describes the vascular granulation tissue formed due to inflammation in rheumatoid arthritis?
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What is the primary cause of rickets in children?
What is the primary cause of rickets in children?
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What is a common risk factor for both developing rheumatoid arthritis and affecting its severity?
What is a common risk factor for both developing rheumatoid arthritis and affecting its severity?
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What condition is characterized by local areas of excessive bone turnover?
What condition is characterized by local areas of excessive bone turnover?
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What is a common treatment for osteoporosis in men?
What is a common treatment for osteoporosis in men?
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Which metabolic bone disorder results from excessive bone remodeling leading to enlarged and weakened bones?
Which metabolic bone disorder results from excessive bone remodeling leading to enlarged and weakened bones?
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What is the occurrence rate of complete dislocation in developmental hip dysplasia?
What is the occurrence rate of complete dislocation in developmental hip dysplasia?
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How do bisphosphonates function in the treatment of bone disorders?
How do bisphosphonates function in the treatment of bone disorders?
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Rheumatoid arthritis affects women how much more than men?
Rheumatoid arthritis affects women how much more than men?
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Which vitamin deficiency is associated with osteomalacia?
Which vitamin deficiency is associated with osteomalacia?
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What role does estrogen play in bone health for postmenopausal women?
What role does estrogen play in bone health for postmenopausal women?
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Study Notes
Hereditary and Congenital Deformities
- Multifactorial causes include genetic influences and exposure to external agents
- Abnormalities occur in bone matrix, collagen synthesis, and bone mass
- Osteogenesis imperfecta affects 20,000-50,000 US cases
- Defective collagen I alpha chains (COL1A) found on chromosomes 17 and 7
- Clinical manifestations of Osteogenesis imperfecta include thin, poorly developed bones, short limbs, prone to fractures, hearing loss, and stillbirths
- Developmental hip dysplasia includes instability, subluxation, or complete dislocation
- Affects approximately 1 in 100 infants, with 1 in 1000 experiencing complete dislocation
- More common in girls
- Etiology includes positive family history and increased maternal hormones (estrogen and pelvic relaxation hormones)
- Treatment options include therapy, harnesses, hip casts, and surgery
- Scoliosis is a lateral deviation of the spine
- Idiopathic scoliosis is most commonly seen in girls
- Scoliosis is classified by age of onset:
- Infantile scoliosis: 0-3 years
- Juvenile scoliosis: 4-9 years
- Adolescent scoliosis: > 10 years (80% of cases)
- Diagnosed by 5 cardinal signs: uneven shoulders, prominent scapula, malalignment of spinous process, asymmetrical rib cage, and a rib hump or prominent paraspinal muscle
- Treatment options include early diagnosis, Milwaukee to Wilmington braces, and surgery
Arthritis
- Term used for over 100 diseases
- Commonality: inflammation of a joint due to an immune response
Rheumatoid Arthritis
- Systemic inflammatory disease affecting 3 times more women than men.
- Cause is unknown, but genetic predisposition, autoimmune response, and environmental factors are involved.
- Genetic predisposition:
- HLA-DRB1 – a cell surface receptor that is a ligand for the T-cell receptor
- T-helper cell mediated release of TNF and ILs
- Autoimmune response:
- Rheumatoid factor (RF) – autoantibody that binds with IgG to form complex that contributes to disease
- Pannus – destructive vascular granulation tissue caused by inflammation
- Matrix Metalloprotease-1 (MMP-1) – destroys collagen I
- Non-genetic or environmental factors: cigarette use, coffee consumption, obesity, and occupational hazards (exposure to silica) may play a role in susceptibility to disease
- Clinical manifestations:
- Progressive joint destruction leading to subluxation and deformities
- Systemic disease – fatigue, anorexia, anemia, low-grade fever
- Diagnosis includes four categories: - Joint invovlement - Serology - Acute phase reactants - Duration of symptoms
- Treatment aims to reduce symptoms and target remission:
- Personal – rest, weight loss, exercise, physical therapy, hot-cold modalities
- Pharmacological – NSAIDs, DMARDs, corticosteroids
Metabolic Bone Disorders
- Dysfunction of bone remodeling
- Breakdown of bone is greater than the formation of bone
- Osteopenia:
- Term used to describe a lack of bone mass
- Reduction in bone mass greater than expected based on age, race, or sex
- Not a diagnosis
- Includes many metabolic bone diseases
- Osteoporosis
- Osteomalacia
- Malignancies
- Endocrine disorders: Hyperparathyroidism and hyperthyroidism
- Osteoporosis: Loss of mineralized bone mass
- Associated with aging, gender, genetics, activity level, and nutrition
- Susceptible to fractures
- Postmenopausal Caucasian and Asian women at higher risk
- Decreased estrogen associated with increased TNF, IL-1, IL-6, cytokines that stimulate osteoclast precursors
- Osteoblastic activity occurs, but is less than osteoclastic activity
- Secondary osteoporosis:
- Associated with multiple conditions
- Endocrine disorders: hyperparathyroidism, hyperthyroidism, Cushing syndrome (hypercortisolism ), diabetes mellitus
- Alcohol: direct inhibitor of osteoblasts and calcium
- Long-term corticosteroid use: drug-related osteoporosis related to treatments for rheumatoid arthritis and COPD
- Prolonged use of medications: medications that increase calcium excretion (anticonvulsants and aluminum-containing antacids)
- Associated with multiple conditions
Osteoporosis Treatment
- Prevention and early detection
- Increased exercise
- Women
- Estrogen replacement therapy
- SERMs (Selective Estrogen Receptor Modulators)
- Men:
- Testosterone: stimulates osteoblast and inhibits osteoclast (contraindicated in men with prostate cancer)
- Bisphosphonates: analogs of endogenous inorganic pyrophosphates
- Bind to hydroxyapatite to prevent bone reabsorption
- Inhibit osteoclast activity
- Reduce risk of hip, vertebral, and non-vertebral fractures
- Calcitonin: endogenous peptides that partially inhibits osteoclastic activity
Osteomalacia and Rickets
- Softening of bones without bone matrix loss
- Osteomalacia: Inadequate mineralization of bone (adults)
- Rickets: Failure or delay in calcification of growth plate (children)
- Etiology
- Nutritional deficits
- Malabsorptive syndromes (celiac diseases and cystic fibrosis)
- Medications (anticonvulsants, antacids )
- Insufficient calcium absorption due to lack of dietary calcium
- Deficiency or resistance to vitamin D
- Phosphate deficiency caused by renal losses or decreased intestinal absorption
- Treatment targeted to underlying causes
Paget Disease (Osteitis Deformans)
- Local areas of excessive bone turnover, lesions with increased osteoblastic deposition of bone
- Causes bone deformities
- Second most common bone disease
- Manifests in Northern European heritage, usually at ~40 years of age
- Causes
- Genetics: First-degree family members with the disease
- Paramyxovirus particles in osteoclasts
- Treatment
- Bisphosphonates and calcitonin
- Pain management
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Description
Test your knowledge on hereditary and congenital deformities, focusing on conditions like Osteogenesis Imperfecta and developmental hip dysplasia. This quiz covers causes, clinical manifestations, and treatment options for these disorders. Gain a better understanding of how genetic and environmental factors influence bone health.
