Case 5 (Betsy): Health maintenance visit at 16 years with fatigue, anemia, and vWD

Question 1

Types of genetic inheritance (4 types)

Answer 1

1. Autosomal dominant
   Multiple members of both genders in each generation are involved. Examples: Von Willebrand’s disease (vWD), neurofibromatosis and Marfan syndrome.
2. Autosomal recessive
   Male and female offspring of heterozygote carriers have a one in four chance of being affected. Examples: Cystic fibrosis, Tay-Sachs disease.
3. X-linked recessive
   Males are more commonly affected, but females may be carriers and pass the trait to their sons. There is no male-to-male transmission. Examples: Hemophilia, Duchenne’s muscular dystrophy.
4. Mitochondrial
   The disease is inherited only from the mother, and usually all children are affected. This is because mitochondria are maternal in origin. Therefore, affected males will not have affected children. (Exception: Mitochondrial diseases that are the result of nuclear gene mutations, where mutations are inherited in Mendelian fashion.) Examples of mitochondrial diseases: MERRF
   (myoclonic epilepsy with ragged red muscle fibers) and MELAS (mitochondrial myopathy, encephalopathy, lactic acidosis, and stroke-like episodes).

Question 2

Eating disorder: physical findings

Answer 2

Physical findings (in typical order of appearance):

1. Weight loss or failure to gain
2. In females, amenorrhea
3. Bradycardia
   While mostly asymptomatic, the 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.
4. If the illness continues to progress, then electrolyte abnormalities begin to manifest.
5. While patient may have several issues related to the malnutrition, including 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 3

Eating disorder: management

Answer 3

Finding community-based therapists and nutritionists skilled with working with adolescent and their families or an eating disorder center or other facility skilled in management is essential to prevent death and to begin the difficult path toward correction of the altered body images.

Question 4

Eating disorder: epidemiology

Answer 4

More prevalent in girls; approximately 25% in boys.

Question 5

General guidelines for interviewing teens (including HEEADSSS pneumonic)

Answer 5

• Teens are likely to be more open if the interview is focused on them, not their problems.
• In contrast to other interviews, start with specific questions to build trust and rapport. One way to do this is to talk informally with the teen about his/her home, school and preferred activities, hobbies, family, and sports.
• Remember that teens who engage in one risk-taking behavior often engage in other risky behaviors (e.g., if they smoke cigarettes, they’re more likely to have tried alcohol).

- To assess for risky behaviors, use the HEEADSSS approach:
H: Home
E: Education (and Employment)
E: Eating disorder screening
A: Activities
D: Drugs
S: Sexuality
S: Suicide risk (and depression)
S: Safety (fights, car, weapons)

• Do not be judgmental.
• Treat this as data-gathering and be empathetic.

Question 6

Confidentiality when interviewing teens

Answer 6

• It is important to establish confidentiality with adolescents.
• Limits of confidentiality vary depending on the type of medical practice and current state laws.
• Explain to parent and teen up front that it is common to conduct part of interview alone to respect teen’s privacy and discuss confidential matters.
• Set tone at beginning of visit or at end of interview while parent present.
• Reassure parent that if there are any serious problems (suicide, self-harm) that could threaten the patient’s life or health, the parent will be informed.
• Tell parents that you encourage patients to discuss issues with their parents.
• If parent refuses to leave room, explore the parent’s concern and advocate for respecting adolescent’s privacy. Encourage parent to communicate reasons for refusal to leave room, and address these concerns.

Question 7

Assessing for eating disorders

Answer 7

Questions to ask:

• 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?

The majority of adolescents will be truthful in their answers, especially if you have discussed confidentiality up front.

Early anorexia or bulimia can be difficult to diagnose, but severe emaciation, over-exercising, and laxative-taking may be evident. You may find a family history of similar conditions or other psychiatric illness, especially suicidal attempts and depression.

Question 8

Depression

Answer 8

Many healthy adolescents experience mood swings. These behaviors are usually not indicative of depression.

Other teens may have some difficulty in adjusting to new
circumstances, such as moving while in high school or a breakup with a significant other. These adjustment reactions tend to be short and do not usually cause lasting effects.

If you suspect depression, the adolescent should be fully evaluated by a physician who is skilled in evaluating teens. This may be a general pediatrician or adolescent medicine physician or a mental health professional.

All adolescents, whether depressed or not, should also be asked about a history of self-injury, suicidal ideation, or suicide attempts. If there is any concern about suicidal thoughts, it is paramount that adolescents be evaluated by a mental health professional skilled in working with adolescents

Question 9

Drugs and alcohol

Answer 9

While not a validated method, many pediatricians ask about peer use first; it normalizes the questions and may allow patients to answer more freely about their own use.

Question 10

Sexual history

Answer 10

Do not make assumptions about the sexuality or sexual practices of your patients (i.e., that your patients are heterosexual, are sexually active, or even dating).

Ask questions such as “Do you have a special romantic relationship with anyone?” and then, “What kinds of things do you do together?”

If a teen is sexually active, asking “when you have sex, do you have it with girls, guys, or both” is very important. Sexual minority youth suffer from society’s pervasive homophobia and often have more difficulties during adolescence than heterosexual youth.

Obtaining a specific, explicit sexual history is also paramount for the sexually active teen. Do not assume that teenagers are just engaged in penis-vagina sex; as many as 50% have participated in oral sex, and as many as 15% in anal sex. All practices have risks, and many will have elaborated recommendations for sexually transmitted disease (STD) screening. All sexually active teens over age 13 should be offered a test for human immunodeficiency virus (HIV) unless the teen and/or family “opts out.”

Question 11

Teen patient interviewing tactics

Answer 11

If patient becomes defensive, try to redirect questioning to a topic that does not have an emotional overlay. Return to the topic later, when you have established a rapport.

Question 12

Important considerations in an adolescent physical exam

Answer 12

• Provide draping to cover patient’s body
• Be respectful of potential shyness
• Have a chaperone present for examining the opposite sex

Question 13

Tanner Staging and sexual development

Answer 13

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.

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 approximately 15 years.

For boys, the first sign—growth of the testicles—may be difficult to elicit. This is followed by pubic hair, penile growth, and growth spurt (approximately 14 years).

The typical age ranges for sexual development are as follows:

• Girls (begin puberty at 8–13 years)
  
  • Breast buds appear at 10–11 years
  • Pubic hair appears at 10–11 years
  • Growth spurt at 12 years
  • Periods begin (menarche) at 12–13 years
  • Adult height at 15 years
• Boys (begin puberty at 10–15 years)
  
  • Growth of testicles at 12 years
  • Pubic hair appears at 12 years
  • Growth of penis, scrotum at 13–14 years
  • First ejaculations at 13–14 years
  • Growth spurt at 14 years
  • Adult height at 17 years

Question 14

Differential Dx: 2 months of progressive fatigue in a 16 yo girl

Answer 14

1. Anemia: 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.
2. 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 one in five 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.
   - Symptoms: 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).
   - Diagnosis: Labwork: Bleeding time; PTT, vWF and platelet function analyses; factor VIII level and activity.
3. 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.
4. Psychosocial causes: Depression, substance abuse, and eating disorders can all lead to complaint of fatigue.

Question 15

Studies to evaluate for anemia and bleeding disorder:

Answer 15

Complete blood count (CBC) with platelets

Red blood cell indices

Reticulocyte count: Indicates the rate of red blood cell formation and rules out hemolytic anemia

Prothrombin time (PT): Specifies a problem with the extrinsic limb of the coagulation system

Partial thromboplastin time (PTT): Specifies a problem with the intrinsic limb of the coagulation system

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

Factor VIII level and activity

vWF antigen

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

Question 16

Management of anemia and bleeding disorder:

Answer 16

1. Referral to hematologist
2. Treatment for bleeding most often consists of intranasal/intravenous desmopressin. Sometimes human plasma–derived vWF concentrate may be administered.
3. For menorrhagia, combination contraceptive pills or levonorgestrel intrauterine device.