Hereditary and Congenital Deformities Quiz

Podcast Beta

Play an AI-generated podcast conversation about this lesson

Questions and Answers

What is a common characteristic of rheumatoid arthritis joint involvement?

Swelling, tenderness, and warmth in joints (correct)

Diminished joint pain with activity

Increased joint mobility

Loss of bone density

Which biomarker is associated with rheumatoid arthritis?

Vitamin D deficiency

Elevated calcium levels

Anti-citrullinated protein autoantibody (ACPA) (correct)

Decreased erythrocyte sedimentation rate

What is the primary cause of Osteogenesis imperfecta?

Hormonal imbalances during pregnancy

Exposure to external toxins

Defective synthesis of collagen I alpha chains (correct)

Nutritional deficiencies during early development

What is the primary aim of rheumatoid arthritis treatment?

Reduce symptoms and target remission Signup and view all the answers

Which of the following is a common treatment for osteoporosis?

Bisphosphonates Signup and view all the answers

Which metabolic bone disorder is characterized by softening of the bones often due to vitamin D deficiency?

Osteomalacia Signup and view all the answers

What is the primary reason for the high prevalence of developmental hip dysplasia in girls?

Increased maternal hormones Signup and view all the answers

What causes secondary osteoporosis?

Various medical conditions and medications Signup and view all the answers

What distinguishes osteomalacia from osteoporosis?

It is associated with softening of the bones Signup and view all the answers

Which of the following is NOT a common clinical manifestation of rheumatoid arthritis?

Rapid weight gain Signup and view all the answers

Which group of individuals is most susceptible to osteoporosis?

Postmenopausal Caucasian and Asian women Signup and view all the answers

Scoliosis is classified based on what criterion?

Age of onset Signup and view all the answers

Which term describes the vascular granulation tissue formed due to inflammation in rheumatoid arthritis?

Pannus Signup and view all the answers

What is the primary cause of rickets in children?

Inadequate mineralization of bones Signup and view all the answers

What is a common risk factor for both developing rheumatoid arthritis and affecting its severity?

Cigarette use Signup and view all the answers

What condition is characterized by local areas of excessive bone turnover?

Paget disease Signup and view all the answers

What is a common treatment for osteoporosis in men?

Testosterone therapy Signup and view all the answers

Which metabolic bone disorder results from excessive bone remodeling leading to enlarged and weakened bones?

Paget's Disease Signup and view all the answers

What is the occurrence rate of complete dislocation in developmental hip dysplasia?

1 in 1000 infants Signup and view all the answers

How do bisphosphonates function in the treatment of bone disorders?

Inhibit osteoclast activity Signup and view all the answers

Rheumatoid arthritis affects women how much more than men?

Three times as much Signup and view all the answers

Which vitamin deficiency is associated with osteomalacia?

Vitamin D Signup and view all the answers

What role does estrogen play in bone health for postmenopausal women?

Decreases TNF and IL-1 cytokines Signup and view all the answers

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)

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

Studying That Suits You

Use AI to generate personalized quizzes and flashcards to suit your learning preferences.

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.