VISIT - BETSY Author: Kim Blake, M.D., Dalhousie University Learning Objectives 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. 1. Interview an adolescent and parent, providing a triangle of communication between them. 2. Address confidentiality with the adolescent and parent, including the issues that can and cannot be broken in a confidentiality agreement. 3. Discuss risk-taking activities with the adolescent alone (the HEEADSSS interview). This should be completed in a nonjudgmental, non-listlike manner. 4. 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. 5. Understand the different anemias and the causes of fatigue and/or easy bruising in childhood and adolescence. 6. 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 History Fatigue Heavy periods medU | Instructors http://www.med-u.org/communities/instructors/clipp/case_sum... 1 of 9 11/8/11 11:51 AM History of frequent nosebleeds Otherwise negative medical history Family history of hypothyroidism Family history of anemia Key Findings from Physical Exam Blood oozing from wound Pallor Differential Diagnosis Depression Hypothyroidism Anemia Substance abuse Bleeding disorder Key Findings from Testing Microcytic anemia Prolonged bleeding time Partial thromboplastin time (PTT) high Factor VIII activity low Von Willebrand factor antigen and activity low Final Diagnosis Anemia 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: medU | Instructors http://www.med-u.org/communities/instructors/clipp/case_sum... 2 of 9 11/8/11 11:51 AM 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) Weight loss or failure to gain 1. medU | Instructors http://www.med-u.org/communities/instructors/clipp/case_sum... 3 of 9 11/8/11 11:51 AM
In females, amenorrhea
2. 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. 3. If the illness continues to progress, then electrolyte abnormalities begin to manifest.
4. 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. 5. 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: 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 1. medU | Instructors http://www.med-u.org/communities/instructors/clipp/case_sum... 4 of 9 11/8/11 11:51 AM 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.
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. 2. 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. 3. 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 4. medU | Instructors http://www.med-u.org/communities/instructors/clipp/case_sum... 5 of 9 11/8/11 11:51 AM 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 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. 5. 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." 6. 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. 7. 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 medU | Instructors http://www.med-u.org/communities/instructors/clipp/case_sum... 6 of 9 11/8/11 11:51 AM 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 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.
1. 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 2. medU | Instructors http://www.med-u.org/communities/instructors/clipp/case_sum... 7 of 9 11/8/11 11:51 AM analyses; factor VIII level and activity. 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.
3. Psychosocial causes: Depression, substance abuse, and eating disorders can all lead to complaint of fatigue. 4. 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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