Case 5

Question 1

What are key history findings associated with von willebrand’s disease?

Answer 1

Fatigue, heavy periods, hx of frequent nosebleeds, otherwise negative medical history, family history of hypothyroidism, family history of anemia.

Question 2

What are key findings on physical exam associated with von willebrand’s disease?

Answer 2

Blood oozing from wound and pallor.

Question 3

What is the differential diagnosis for von willebrand’s disease?

Answer 3

Depression, Hypothyroidism, Anemia, Substance abuse and Bleeding disorder.

Question 4

What are key findings on testing for patients with von willebrand’s disease?

Answer 4

Microcytic anemia, Prolonged bleeding time, Partial thromboplastin time (PTT) high, Factor VIII activity low, Von Willebrand factor antigen and activity low.

Question 5

Autosomal dominant inheritance:

Answer 5

Multiple members of both genders in each generation are involved. Examples: Von Willebrand’s disease (vWD), neurofibromatosis and Marfan Syndrome

Question 6

X linked recessive inheritance:

Answer 6

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.

Question 7

Mitochondrial inheritance:

Answer 7

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)

Question 8

What are some examples of mitochondrial diseases?

Answer 8

MERRF (myoclonic epilepsy with ragged red muscle fibers) and MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke like episodes)

Question 9

Autosomal recessive inheritance:

Answer 9

Male and female offspring of heterozygote carriers have a one in four chance of being affected. Ex: Cystic fibrosis, Tay Sachs disease.

Question 10

What are the physical findings of eating disorder (in typical order of appearance)?

Answer 10

1. Wt. loss or failure to gain
2. Amenorrhea
3. Bradycardia
4. If illness continues to progress, then electrolyte abnormalities begin to manifest
5. Several issues related to malnutrition

Question 11

What is imp. to know about bradycardia in anorexic patients?

Answer 11

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.

Question 12

What are several issues related to malnutrition that may occur in anorexic patients?

Answer 12

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.

Question 13

What does HEEADSSS stand for?

Answer 13

Home, Education (and Employment), Eating disorder Screening, Activities, Drugs, Sexuality, Suicide risk (and depression), Safety (fights, car, weapons).

Question 14

What are some questions to ask to assess for an eating disorder?

Answer 14

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?

Question 15

How to ask about sexual history?

Answer 15

Do you have a special romantic relationship with anyone? What kinds of things do you do together?

Question 16

What teens should be offered HIV testing?

Answer 16

All sexually active teens over age 13 should be offered a test for HIV unless the teen and/or family “opts out”

Question 17

What is important to remember when doing a physical exam on a teenager?

Answer 17

Have a chaperone present if it is the opposite sex.

Question 18

What is tanner staging?

Answer 18

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.

Question 19

How does girl puberty progress?

Answer 19

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.

Question 20

How does boy puberty progress?

Answer 20

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)

Question 21

When do girls usually begin puberty?

Answer 21

8-13 years

Question 22

When do breast buds appear in girls?

Answer 22

10-11 years

Question 23

When does pubic hair appear in girls?

Answer 23

10-11 years

Question 24

When does a growth spurt occur in girls?

Answer 24

12 years

Question 25

When do periods begin in girls (menarche)?

Answer 25

12-13 years

Question 26

When do girls reach adult height?

Answer 26

15 years

Question 27

When do boys begin puberty?

Answer 27

10-15 years

Question 28

When does testicle growth start?

Answer 28

12 years

Question 29

When does pubic hair appear in boys?

Answer 29

12 years

Question 30

When does growth of the penis and scrotum occur?

Answer 30

13-14 years

Question 31

When does first ejaculation occur?

Answer 31

13-14 years

Question 32

When does a growth spurt occur for boys?

Answer 32

14 years

Question 33

When do boys reach adult height?

Answer 33

17 years

Question 34

What is on the differential diagnosis for von Willebrand’s disease?

Answer 34

Anemia, A bleeding disorder leading to anemia, Hypothyroidism, Psychosocial causes

Question 35

Anemia:

Answer 35

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.

Question 36

A bleeding disorder leading to anemia:

Answer 36

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.

Question 37

Von Willebrand’s Disease (vWD):

Answer 37

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.

Question 38

What are symptoms of Von Willebrand’s Disease?

Answer 38

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).

Question 39

How is Von Willebrand’s Disease diagnosed?

Answer 39

Lab work: Bleeding time, PTT, vWF and platelet function analyses; factor VIII level and activity.

Question 40

What are the symptoms of hypothyroidism?

Answer 40

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.

Question 41

What are psychosocial causes of sx similar to von willebrand disease?

Answer 41

Depression, substance abuse, and eating disorders can all lead to complaint of fatigue.

Question 42

What studies should be done to evaluate for anemia and bleeding disorder?

Answer 42

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.

Question 43

What does a reticulocyte count tell us?

Answer 43

Indicates the rate of red blood cell formation and rules out hemolytic anemia.

Question 44

What does prothrombin time tell us?

Answer 44

Specifies a problem with the extrinsic limb of the coagulation system.

Question 45

What does partial thromboplastin time (PTT) tell us?

Answer 45

Specifies a problem with the intrinsic limb of the coagulation system.

Question 46

What is the platelet function test?

Answer 46

(which has largely replaced the bleeding time in most centers)

Question 47

What is vWF activity?

Answer 47

(also known as Ristocetin cofactor): Low factor VIII activity, low vWF quantity, and low vWF activity confirms vWD.

Question 48

How do you best manage a patient with Von Willebrand’s Disease?

Answer 48

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.