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.
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
- 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.
How does boy puberty progress?
For boys, the first sign - growth of testicles - may be difficult to elicit. This is followed by pubic hair, penile growth, and a growth spurt (approx. 14 years)
When do girls usually begin puberty?
When do breast buds appear in girls?
When does pubic hair appear in girls?
When does a growth spurt occur in girls?
When do periods begin in girls (menarche)?
When do girls reach adult height?
When do boys begin puberty?
When does testicle growth start?
When does pubic hair appear in boys?
When does growth of the penis and scrotum occur?
When does first ejaculation occur?
When does a growth spurt occur for boys?
When do boys reach adult height?
What is on the differential diagnosis for von Willebrand’s disease?
Anemia, A bleeding disorder leading to anemia, Hypothyroidism, Psychosocial causes
Blood loss through heavy periods may be a cause of anemia and resulting fatigue. Anemia caused by an iron deficiency would not have as much fatigue associated, as a slow decline allows body to compensate, such as by increasing blood volume.
A bleeding disorder leading to anemia:
A bleeding disorder - disorder of platelets or clotting factors - is a more specific diagnosis. Because of the much more rapid loss of hemoglobin, fatigue is more likely to occur with a bleeding disorder than a chronic anemia. Bleeding disorders commonly cause metrorrhagia. As many as 1 in 5 women with heavy, prolonged periods has a bleeding disorder.
Von Willebrand’s Disease (vWD):
The most common hereditary bleeding disorder, occurring in approximately 1% of the population. There are three types. The first and second types are transferred via autosomal dominant inheritance with variable penetrance. The third type is much less common and is inherited as an autosomal recessive trait: Type 1 vWD is the most common (70%) and the mildest type. The bleeding is generally not life-threatening.
What are symptoms of Von Willebrand’s Disease?
Ecchymoses, epistaxis, menorrhagia, bleeding post-tonsillectomy or post-dental extraction, and/or gingival bleeds. In absence of major trauma, abnormal bruising in non-exposed areas (buttocks, back, trunk).
How is Von Willebrand’s Disease diagnosed?
Lab work: Bleeding time, PTT, vWF and platelet function analyses; factor VIII level and activity.
What are the symptoms of hypothyroidism?
Cold skin, slowness, fatigue, preferring hot weather to cold, and doing poorly at school are all typical signs of hypothyroidism in an adolescent. Menorrhagia and shorter menstrual cycles are also associated with hypothyroidism.
What are psychosocial causes of sx similar to von willebrand disease?
Depression, substance abuse, and eating disorders can all lead to complaint of fatigue.
What studies should be done to evaluate for anemia and bleeding disorder?
CBC with platelets, red blood cell indices, reticulocyte count, prothrombin time (PT), partial thromboplastin time (PTT), Platelet function test, Factor VIII level and activity, vWF antigen and vWF activity.
What does a reticulocyte count tell us?
Indicates the rate of red blood cell formation and rules out hemolytic anemia.
What does prothrombin time tell us?
Specifies a problem with the intrinsic limb of the coagulation system.
What does partial thromboplastin time (PTT) tell us?
Specifies a problem with the intrinsic limb of the coagulation system.
What is the platelet function test?
(which has largely replaced the bleeding time in most centers)
What is vWF activity?
(also known as Ristocetin cofactor): Low factor VIII activity, low vWF quantity, and low vWF activity confirms vWD.
How do you best manage a patient with Von Willebrand’s Disease?
Referral to hematologist. Tx for bleeding most often consists of intranasal/intravenous desmopressin. Sometimes human plasma-derived vWF concentrate may be administered. For menorrhagia, combination contraceptive pills or levonorgestrel intrauterine device.