A 13-year-old girl is brought to the clinic by her parents due to fatigue. The patient had been well until 2 months ago, when she began the seventh grade. She has since felt tired most days, especially after walking to classes. The patient takes no daily medications and follows a well-balanced diet. Menarche began at age 12, and menstrual cycles occur at 28-day intervals. Menses last 6-7 days and are sometimes accompanied by abdominal cramping. Temperature is 37.2 C (99 F), blood pressure is 105/70 mm Hg, pulse is 100/min, and respirations are 20/min. Weight is 46 kg (101.4 lb), which is at the 50th percentile. Pupils are equal and reactive. The conjunctivae are pale. Oropharyngeal examination shows a few brown macules on the lips and buccal mucosa. The neck is supple with no thyromegaly or lymphadenopathy. Cardiopulmonary examination is unremarkable. The abdomen is soft with a normal liver and spleen size. Distal pulses are 2+. Results of a complete blood count are as follows: Which of the following is the best next step in management of this patient?

Question

A 13-year-old girl is brought to the clinic by her parents due to fatigue.  The patient had been well until 2 months ago, when she began the seventh grade.  She has since felt tired most days, especially after walking to classes.  The patient takes no daily medications and follows a well-balanced diet.  Menarche began at age 12, and menstrual cycles occur at 28-day intervals.  Menses last 6-7 days and are sometimes accompanied by abdominal cramping.  Temperature is 37.2 C (99 F), blood pressure is 105/70 mm Hg, pulse is 100/min, and respirations are 20/min.  Weight is 46 kg (101.4 lb), which is at the 50th percentile.  Pupils are equal and reactive.  The conjunctivae are pale.  Oropharyngeal examination shows a few brown macules on the lips and buccal mucosa.  The neck is supple with no thyromegaly or lymphadenopathy.  Cardiopulmonary examination is unremarkable.  The abdomen is soft with a normal liver and spleen size.  Distal pulses are 2+.  Results of a complete blood count are as follows:  Which of the following is the best next step in management of this patient?

Quizplus · Accepted Answer

11ec25c8_d6a7_a32d_bc81_9ddef7a73126_MD0003_00 This patient with fatigue and pallor due to microcytic anemia has brown macules on the lips and buccal mucosa that are characteristic of Peutz-Jeghers syndrome (PJS). PJS is an autosomal dominant, familial polyposis syndrome caused by a mutation in a tumor suppressor gene, leading to unregulated tissue growth, particularly in the gastrointestinal (GI) tract. Classic findings include hyperpigmented mucocutaneous macules, which are most common on the lips, buccal mucosa, and palms and soles. Characteristic hamartomatous polyps in the GI tract may be asymptomatic or complicated by intestinal obstruction or iron deficiency anemia due to occult bleeding, which is likely in this case. Patients are also at increased risk for GI, breast, and genital tract cancers. lips Management involves screening for various malignancies, as well as monitoring for polyp formation and associated complications. In addition to an annual hemoglobin evaluation to detect anemia, screening upper and lower endoscopies are indicated. Polyps are monitored every few years, and polypectomy is indicated if lesions are large, symptomatic, or malignant. (Choice A) The ACTH stimulation test is performed for primary adrenal insufficiency, which can cause fatigue and skin changes. However, increased melanin synthesis causes generalized hyperpigmentation (most prominent in pressure- or sun-exposed areas such as the elbows and knees) rather than localized brown macules; other symptoms (eg, anorexia, weight loss) are usually present; and microcytic anemia would be unusual. (Choice B) Bone marrow evaluation may be indicated in a patient in whom there is a concern for hematologic malignancy (eg, pancytopenia, lymphadenopathy, hepatosplenomegaly). In addition, bone marrow failure typically causes normocytic, not microcytic, anemia. (Choice C) Iron therapy and oral contraception alone are appropriate treatments for anemia due to prolonged, heavy menstrual bleeding, which is not present here. Moreover, this patient's hyperpigmented macules require further evaluation for PJS. (Choice D) Although lead poisoning can cause microcytic anemia in young children (eg, pica) or in adults with environmental exposures (eg, lead paint), this adolescent patient has no risk factors. In addition, rare oropharyngeal findings in chronic lead toxicity include blue "lead lines" along the gingival margin (where the gums meet the teeth), not brown macules on the lips and buccal mucosa. Educational objective: Peutz-Jeghers syndrome is a genetic condition characterized by hyperpigmented mucocutaneous macules, gastrointestinal polyps that can bleed and cause iron deficiency anemia, and an increased risk for malignancy. Upper and lower endoscopies are performed regularly to screen for polyps and cancer. References: Peutz-Jeghers syndrome: need for early screening. (http://www.ncbi.nlm.nih.gov/pubmed/30567229)

A 13-Year-Old Girl Is Brought to the Clinic by Her