A 36-year-old man comes to the physician with decreased appetite, right-sided facial pain, and fever. He also complains of scant nasal discharge. He has had 3 episodes of sinusitis over the last year that responded well to amoxicillin-clavulanate. Six months ago, he was hospitalized with pneumonia and treated with intravenous antibiotics. His past medical history is unremarkable. He does not use tobacco, alcohol, or illicit drugs. He lives with his girlfriend and has 1 child.
His temperature is 38.3° C (101° F), blood pressure is 144/90 mm Hg, and pulse is 90/min. The right maxillary sinus is tender to palpation. He has 3 small, mobile submandibular nodes. Cardiopulmonary examination is within normal limits. Both upper extremities and the chest have areas of hypopigmented skin.
Laboratory results are as follows:

Urinalysis is unremarkable. Rapid HIV test is negative.
Which of the following conditions is the most likely diagnosis?

Question

A 36-year-old man comes to the physician with decreased appetite, right-sided facial pain, and fever.  He also complains of scant nasal discharge.  He has had 3 episodes of sinusitis over the last year that responded well to amoxicillin-clavulanate.  Six months ago, he was hospitalized with pneumonia and treated with intravenous antibiotics.  His past medical history is unremarkable.  He does not use tobacco, alcohol, or illicit drugs.  He lives with his girlfriend and has 1 child.
His temperature is 38.3° C (101° F), blood pressure is 144/90 mm Hg, and pulse is 90/min.  The right maxillary sinus is tender to palpation.  He has 3 small, mobile submandibular nodes.  Cardiopulmonary examination is within normal limits.  Both upper extremities and the chest have areas of hypopigmented skin.
Laboratory results are as follows:

Urinalysis is unremarkable.  Rapid HIV test is negative.
Which of the following conditions is the most likely diagnosis?

Quizplus · Accepted Answer

11ec193a_972c_b60d_853d_037de34b2d49_MD0002_00 This patient's vitiligo, recurrent sinusitis, and previous history of pneumonia suggest likely common variable immunodeficiency (CVID). CVID is the most common immunodeficiency disorder affecting children and young adults and is due to impaired B cell differentiation and immunoglobulin (IgG, IgA, and/or IgM) production. Patients typically present before age 20 (delayed diagnosis is common) with variable clinical manifestations such as infections (eg, rhinosinusitis and pneumonia) and chronic lung disease. Nearly 75% of patients have a history of pneumonia that is usually due to Streptococcus pneumoniae, Mycoplasma, or Haemophilus influenzae. Diagnosis is suggested by low immunoglobulin levels, poor response to vaccinations, and exclusion of other disorders. Treatment includes antibiotics for specific infections and immunoglobulin replacement therapy. Immunoglobulin therapy can improve CVID prognosis by reducing the number of infections and hospitalizations, reducing antibiotic use, and possibly decreasing progression of chronic lung disease. CVID patients are more likely to develop malignancies and require age-appropriate cancer screening, monitoring for lymphoma, or possible bronchoscopy for unresolved pulmonary findings despite treatment. Chronic lung disease and malignancies are the most common causes of death. (Choice B) Adult cystic fibrosis generally presents with a milder form of the disease that consists of mild respiratory infections, gastrointestinal disease (eg, recurrent pancreatitis, biliary cirrhosis, and portal hypertension), or abnormal reproductive function. This patient's absence of a long history of lung infections or gastrointestinal or fertility problems makes this less likely. (Choice C) Patients with granulomatosis with polyangiitis (Wegener's) typically present with pulmonary and renal disease, history of oronasal ulcers, and persistent rhinorrhea (leading to bony destruction and "saddle-nose" deformity). In addition, the urinalysis is usually abnormal (eg, hematuria and non-nephrotic-range proteinuria). (Choice D) Patients with myeloperoxidase deficiency may be asymptomatic or present with recurrent Candida infections (mucocutaneous, meningeal, osteomyelitis, and sepsis). However, this patient has no prior history of Candida infections. (Choice E) Primary ciliary dyskinesia typically presents with nasal polyposis, otitis, recurrent respiratory infections, situs inversus (present in 50% of patients), and infertility. This patient is not infertile, which makes primary ciliary dyskinesia less likely. Educational objective: Common variable immunodeficiency is the most common immunodeficiency disorder affecting children and young adults and is caused by impaired B cell differentiation and immunoglobulin production (IgG, IgA, and/or IgM). Patients typically present with respiratory infections, chronic lung disease, and increased risk of malignancies. Management includes immunoglobulin replacement therapy and vigorous cancer screening. __________ References: The spectrum of disease manifestations in patients with common variable immunodeficiency disorders and partial antibody deficiency in a university hospital. (http://www.ncbi.nlm.nih.gov/pubmed/22526591) Review of gastric cancer risk factors in patients with common variable immunodeficiency disorders, resulting in a proposal for a surveillance programme. (http://www.ncbi.nlm.nih.gov/pubmed/21470209)

A 36-Year-Old Man Comes to the Physician with Decreased Appetite