Case 5 Flashcards
What are key history findings associated with von willebrand’s disease?
Fatigue, heavy periods, hx of frequent nosebleeds, otherwise negative medical history, family history of hypothyroidism, family history of anemia.
What are key findings on physical exam associated with von willebrand’s disease?
Blood oozing from wound and pallor.
What is the differential diagnosis for von willebrand’s disease?
Depression, Hypothyroidism, Anemia, Substance abuse and Bleeding disorder.
What are key findings on testing for patients with von willebrand’s disease?
Microcytic anemia, Prolonged bleeding time, Partial thromboplastin time (PTT) high, Factor VIII activity low, Von Willebrand factor antigen and activity low.
Autosomal dominant inheritance:
Multiple members of both genders in each generation are involved. Examples: Von Willebrand’s disease (vWD), neurofibromatosis and Marfan Syndrome
X linked recessive inheritance:
Males are more commonly affected, but females may be carriers and pass the trait to their sons. There is no male-to-male transmission. Ex: Hemophilia, Duchenne’s muscular dystrophy.
Mitochondrial inheritance:
Disease inherited only from mother, and usually all children are affected. This is because mitochondria are maternal in origin. Therefore, affected males will not have affected children. (ex: mitochondrial diseases that are the result of nuclear gene mutations, where mutations are inherited in Mendelian fashion)
What are some examples of mitochondrial diseases?
MERRF (myoclonic epilepsy with ragged red muscle fibers) and MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke like episodes)
Autosomal recessive inheritance:
Male and female offspring of heterozygote carriers have a one in four chance of being affected. Ex: Cystic fibrosis, Tay Sachs disease.
What are the physical findings of eating disorder (in typical order of appearance)?
- Wt. loss or failure to gain
- Amenorrhea
- Bradycardia
- If illness continues to progress, then electrolyte abnormalities begin to manifest
- Several issues related to malnutrition
What is imp. to know about bradycardia in anorexic patients?
While mostly asymptomatic, bradycardia may lead to decreased cardiac output severe enough to lead to postural hypotension. Patient must be hospitalized at this point for intensive treatment to prevent further progression and for nutritional stabilization.
What are several issues related to malnutrition that may occur in anorexic patients?
Hypoalbuminemia, hypoglycemia or hyponatremia (due to excessive water intake), these do not tend to be severe enough to lead to significant immediate complications. However, continued deficiencies of calcium and magnesium may lead to neurologic changes, increased reflex tone and compromised cardiac function.
What does HEEADSSS stand for?
Home, Education (and Employment), Eating disorder Screening, Activities, Drugs, Sexuality, Suicide risk (and depression), Safety (fights, car, weapons).
What are some questions to ask to assess for an eating disorder?
Have you tried to lose weight? Are you unhappy about your weight or appearance? Do you worry about eating? Do you feel obsessed with food?
How to ask about sexual history?
Do you have a special romantic relationship with anyone? What kinds of things do you do together?
What teens should be offered HIV testing?
All sexually active teens over age 13 should be offered a test for HIV unless the teen and/or family “opts out”
What is important to remember when doing a physical exam on a teenager?
Have a chaperone present if it is the opposite sex.
What is tanner staging?
Sexual-maturity ratings. Classifies the secondary sexual characteristics in male and female children. In girls, breast and pubic hair development are characterized. In boys, pubic hair and genital development are characterized.
How does girl puberty progress?
Girls start puberty earlier than boys. Breast buds are the first sign, followed by pubic hair, then growth spurt, then menarche. Most girls reach adult height by approx. 15 years.
