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Case 5
16-YEAR-OLD GIRL'S HEALTH MAINTENANCE
VISIT - BETSY
Author: Kim Blake, M.D., Dalhousie University

Learning Objectives
1. Understand the relevance of a health maintenance visit and know crucial
issues to address when interviewing an adolescent in the setting of the
emergency department, clinic, or on the inpatient service.
2. Interview an adolescent and parent, providing a triangle of communication
between them.
3. Address confidentiality with the adolescent and parent, including the issues
that can and cannot be broken in a confidentiality agreement.
4. Discuss risk-taking activities with the adolescent alone (the HEEADSSS
interview). This should be completed in a nonjudgmental, non-listlike
manner.
5. Appropriately examine an adolescentincluding sexual maturity rating,
scoliosis screening, and genital (male genitourinary and female pelvic)
exams as neededso as to produce the least amount of anxiety for the
adolescent.
6. Understand the different anemias and the causes of fatigue and/or easy
bruising in childhood and adolescence.

Summary of clinical scenario: 16-year-old Betsy visits with complaints of


fatigue and "not being herself." After considering the wide differential diagnosis of
fatigue, physical exam reveals blood oozing from a belly-button piercing. This
physical finding, further history of bruising and heavy periods, plus a family
history of bleeding troubles, lead to a differential diagnosis for bleeding problems.
Blood tests elucidate a diagnosis of anemia exacerbated by von Willebrands
disease.

Key Findings from Fatigue


History Heavy periods

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History of frequent nosebleeds


Otherwise negative medical history
Family history of hypothyroidism
Family history of anemia

Key Findings from Blood oozing from wound


Physical Exam Pallor

Depression
Hypothyroidism
Differential Diagnosis Anemia
Substance abuse
Bleeding disorder

Microcytic anemia
Prolonged bleeding time
Key Findings from Partial thromboplastin time (PTT) high
Testing Factor VIII activity low
Von Willebrand factor antigen and
activity low

Anemia
Final Diagnosis
Von Willebrand's disease with anemia

Case highlights: The case focuses on the special elements of an adolescent visit:
Gaining trust, eliciting information in the HEEADSSS interview, conveying
confidentiality rights, draping for the exam, and assessing Tanner stages. The
case touches on eating disorders, drug abuse, and sexual orientation. Multimedia
features include an example of a von Willebrands disease autosomal dominant
pedigree.

Key Teaching Points


Knowledge
Types of genetic inheritance:

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Pedigree A: Autosomal dominant inheritance

Multiple members of both genders in each generation are involved.


Examples: Von Willebrands disease (vWD), neurofibromatosis and Marfan
syndrome.

Pedigree B: 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. Examples:
Hemophilia, Duchenne's muscular dystrophy.

Pedigree C: Mitochondrial inheritance

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 strokelike
episodes).

Pedigree D: Autosomal recessive inheritance

Male and female offspring of heterozygote carriers have a one in four


chance of being affected. Examples: Cystic fibrosis, Tay-Sachs disease.

Eating disorder:

Physical findings (in typical order of appearance)

1. Weight loss or failure to gain

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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.

Management

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.

Epidemiology

More prevalent in girls; approximately 25% in boys.

Skills
History:

1. General guidelines for interviewing teens


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

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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.

2. Confidentiality
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 teens 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 patients 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 parents concern and
advocate for respecting adolescent's privacy. Encourage parent to
communicate reasons for refusal to leave room, and address these
concerns.
3. Assessing for eating disorder
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.
4. Depression
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

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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
5. Drugs and alcohol
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.
6. Sexual history
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 societys 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."
7. Tactics
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.

Physical exam:

Important considerations in adolescent physical exam

Provide draping to cover patients body


Be respectful of potential shyness
Have a chaperone present for examining the opposite sex

Tanner staging and sexual development:

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

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by pubic hair, then growth spurt, then menarche. Most girls reach adult
height by approximately 15 years.
For boys, the first signgrowth of the testiclesmay 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 813 years)
Breast buds appear at 1011 years
Pubic hair appears at 1011 years
Growth spurt at 12 years
Periods begin (menarche) at 1213 years
Adult height at 15 years
Boys (begin puberty at 1015 years)
Growth of testicles at 12 years
Pubic hair appears at 12 years
Growth of penis, scrotum at 1314 years
First ejaculations at 1314 years
Growth spurt at 14 years
Adult height at 17 years

Differential diagnosis
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 disorderdisorder of


platelets or clotting factorsis 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

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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.

Studies
To evaluate for anemia and bleeding disorder:

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.

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

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