A 12-year-old girl is brought to the office due to nasal congestion for the past 2 weeks. The nasal discharge has become thick and green, and fever started today. On physical examination, the patient has mucopurulent nasal drip and tenderness over the maxillae. The remainder of the examination is normal. Medical history includes 2 prolonged episodes of sinusitis this year and a recent episode of Giardia lamblia infection. The patient was hospitalized last year for Streptococcus pneumoniae bacteremia; prior to this, the patient was in good health. She has had asthma since age 3 but takes no medications other than bronchodilators as needed. Developmental milestones were achieved on time. Immunizations are up to date. Height and weight are currently at the 5th percentile for age. Laboratory results are as follows: A diagnosis of acute sinusitis is made, and antibiotic therapy is initiated. Which of the following is important in long-term management of this patient?

Question

A 12-year-old girl is brought to the office due to nasal congestion for the past 2 weeks.  The nasal discharge has become thick and green, and fever started today.  On physical examination, the patient has mucopurulent nasal drip and tenderness over the maxillae.  The remainder of the examination is normal.  Medical history includes 2 prolonged episodes of sinusitis this year and a recent episode of Giardia lamblia infection.  The patient was hospitalized last year for Streptococcus pneumoniae bacteremia; prior to this, the patient was in good health.  She has had asthma since age 3 but takes no medications other than bronchodilators as needed.  Developmental milestones were achieved on time.  Immunizations are up to date.  Height and weight are currently at the 5th percentile for age.  Laboratory results are as follows:  A diagnosis of acute sinusitis is made, and antibiotic therapy is initiated.  Which of the following is important in long-term management of this patient?

Quizplus · Accepted Answer

11ec25c8_d624_b780_bc81_cfdd4b761852_MD0003_00 This patient has had streptococcal bacteremia, Giardia lamblia infection, and recurrent sinusitis, as well as failure to thrive and asthma. Her presentation is most suggestive of common variable immunodeficiency (CVID). In CVID, abnormal differentiation of B cells into plasma cells results in decreased production of multiple immunoglobulin classes. CVID typically presents in adolescents (around puberty) or young adults (age 20-40) with recurrent sinopulmonary infections, frequently from encapsulated organisms such as Streptococcus pneumoniae and Haemophilus influenzae. Chronic pulmonary disease (eg, asthma, bronchiectasis) is common. Patients may also have recurrent diarrheal infections (eg, Salmonella, Campylobacter, Giardia) and failure to thrive. Characteristic laboratory results include an immunoglobulin profile with markedly decreased IgG as well as low IgA and/or IgM. Antibody response to vaccines is typically undetectable. Lymphocyte and B-cell concentrations are generally normal. Treatment is intravenous immunoglobulin infusion to replete immunoglobulins and prevent severe infection; however, patients have increased risk of autoimmune disease and certain malignancies, regardless of treatment. (Choice A) Antiviral and antifungal prophylaxis are indicated in patients with impaired cellular immunity (eg, chronic granulomatous disease, severe combined immunodeficiency [SCID]). Because cellular immunity is usually adequate in CVID, patients do not routinely require antiviral or antifungal prophylaxis. (Choice B) In DiGeorge syndrome, lack of thymic tissue prevents maturation of hematopoietic precursors, and cultured thymic transplant can be curative. However, DiGeorge syndrome typically presents with dysmorphic facial features, palatal defects, cardiac abnormalities, disorders of calcium metabolism, developmental delays, and lymphopenia. (Choice C) Hematopoietic stem cell transplant is the treatment for SCID, which presents early in infancy with severe infections, chronic diarrhea, and leukopenia. This patient's age at presentation, milder clinical course, and normal lymphocyte count make CVID more likely. Stem cell therapy is rarely required for CVID due to favorable responses to immunoglobulin replacement therapy. (Choice D) Immunomodulators such as interferon gamma are used in chronic granulomatous disease, which is due to impaired phagocyte function and causes recurrent bacterial and fungal infections (eg, pneumonia, abscess). Most patients present at age <5, and typical pathogens include Aspergillus and Staphylococcus aureus. Educational objective: Common variable immunodeficiency (CVID) is caused by abnormal B-cell differentiation, leading to decreased immunoglobulin production. CVID typically presents in early adulthood or adolescence with recurrent sinopulmonary and gastrointestinal (eg, Giardia) infections, failure to thrive, and chronic pulmonary disease. Treatment is intravenous immunoglobulins. References: Perspective: evolving concepts in the diagnosis and understanding of common variable immunodeficiency disorders (CVID). (http://www.ncbi.nlm.nih.gov/pubmed/31720921)

A 12-Year-Old Girl Is Brought to the Office Due to Nasal