Autoimmune, Genetic, & Neoplastic Conditions Flashcards
What is the cause of Osteoarthritis?
Wear & Tear
What is the cause of Rheumatoid Arthritis?
Autoimmune disorder
What is the presentation of Osteoarthritis?
- Can affect any joint
- Can be unilateral or bilateral
- Mostly affects PIPs and DIPs. The proximal and distal interphalangeal joints.
What is the presentation of Rheumatoid Arthritis?
- Always bilateral & symmetrical
- Starts in MCPS (metacarpophalangeal joints) most commonly but spreads to other joints
- Permanent joint deformities due to fibrosis and calcification
What are the key symptoms of Systemic Lupus Erythematosus?
- Attacks many organs and tissues
- Butterfly rash
- Joint pain
- low grade fever during flare-ups
- Fatigue
- Hair loss
- Sensitivity to certain types of light and chemicals
- Labs are positive for ANA antibodies (anti-nuclear antibodies)
- Basically targeting the person’s own DNA
What are the key symptoms of Systemic Sclerosis aka Scleroderma?
- person develops fibrosis (scar tissue) in multiple organs and tissues
- skin looks tight and shiny
What are the key symptoms of Ankylosing Spondylitis??
- Inflammation of Sacroiliac joints and spine
- Leads to stiff spine (bamboo spine)
Hypolordosis, Hyperkyphosis - Labs positive for HLA-B27 gene - genetic predisposition
What is the mechanism of Multiple Sclerosis?
Autoimmune attack of myelin sheath in CNS (brain, spinal cord)
What are the key symptoms of multiple sclerosis?
Motor Symptoms include:
- weakness
- paralysis
- clumsiness
Sensory Symptoms include:
- tingling
- numbness
- altered sensation
Tends to start in the upper body and work way down.
Lhermitte’s sign - test to determine MS. Ask patient to flex chin to chest. A positive sign is the person will get a shock feeling in their neck
What is the mechanism of Myasthenia Gravis?
Auto-antibodes interfere at neuromuscular junction…block acetylcholine
What are the key symptoms of Myasthenia Gravis?
- muscle weakness
- Starts in the upper body (eye-ptosis)
and works way down - Unlike MS there are not any sensory issues because only impacts motor junctions
What are the symptoms of Psoriasis?
- Autoimmune disorder
- dry, scaling plaques, red/silverish
- Can bleed from minute points if you attempt to scrape off (Auspitz’s sign)
- some people develop erosive arthritis called psoriatic arthritis
What are the key symptoms of Huntington’s Disease/Chorea?
- Genetic Autosomal Dominant Disorder (only one parent has to pass a mutated gene)
- affects neurons in the brain causing premature degeneration
- Cognitive decline (loss of memories, ability to care for one’s self)
- involuntary, purposeless movements
- Generally starts in the 40s on average
What are the key symptoms of Marfan syndrome?
- Genetic Autosomal Dominant Disorder
- Defect of connective tissue
- Thin, tall, elongated trunk and limbs
- Hyperflexible, dislocations
- Musculoskeletal deformities such as scoliosis
-Prone to Pneumothorax, aneurysms, and valve prolapses
What are the key symptoms of Cystic Fibrosis?
Autosomal Recessive Disorder (gene from both parents)
- defect in chloride transport channels on epithelial cells–leads to very thick viscous bodily secretions
- Respiratory problems: SOB, cough, frequent infections
Digestive impairment: malabsorption, low body weight, bloating, diarrhea, constipation - Sweat is very salty
What are the key symptoms of Albinism?
Autosomal Recessive Disorder
- lack enzyme to make melanin so no pigment in the body
What are the key symptoms of Muscular Dystrophy?
X-linked Recessive disorder - most common in males b/c only one X
- Muscles degenerate starting in childhood
What are the key symptoms of Hemophilia?
X-linked Recessive disorder
- Clotting factor 8 deficiency leads to inability to clot blood
What are the key symptoms of Aneuploidy?
X-linked Recessive disorder
Abnormal amount of chromosomes (something other than 46)
What is the mechanism of Turner Syndrome?
X-linked Recessive disorder
Born with 1x and missing the other half of the pair
What are the key symptoms of Turner Syndrome?
- Born with female genitalia but infertile
- Hypogonadism
- Low estrogen
- Short, stocky build
- amennorhea
- Poor breast developmemt
What is the mechanism of Klinefelter Syndrome?
X-linked Recessive Disorder
Has XXY chromosome
What are the key symptoms of Klinefelter Syndrome?
- Born with male genitalia, but low sperm count so infertile
- Hypogonadism
- Low testosterone so little body hair
- High pitched voice
- Breast tissue
- Female pubic hair distribution
- Poor muscle tone
Spina bifida
- Mom in deficiency in folic acid/folate while pregnant
- Neural tube in embryo/fetus will not close completely
- Born with opening in spinal column
