All That Wheezes Is Not Asthma: Very Severe Airway Obstruction in a Young Female

Abstract

INTRODUCTION: Diffuse idiopathic pulmonary neuroendocrine cell hyperplasia (DIPNECH) is a rare disorder that is often misdiagnosed as asthma and the diagnosis is usually delayed. CASE PRESENTATION: A 23-year-old female presented to clinic with six months of progressive wheezing, cough, and dyspnea. She was diagnosed with asthma by a general practitioner. Her symptoms did not respond to montelukast, inhaled fluticasone/salmeterol, and nebulized ipratropium/albuterol. She did not smoke. Physical exam was notable for tachycardia and bilateral expiratory wheezing. Laboratory data was normal. Post bronchodilator pulmonary function testing revealed FEV1 17%, FVC 21%, FEV1/FVC 53% and DLCO 61%. High resolution CT (HRCT) showed bilateral nodules, ground glass opacities, mosaic attenuation, bronchiectasis and air trapping. She underwent bronchoscopy with biopsy disclosing aggregates of hyperplastic primitive small blue cells adjacent to ciliated respiratory epithelium. She improved with systemic corticosteroids. DISCUSSION: DIPNECH is exceedingly rare. Although, first recognized in the 1950s, fewer than 50 cases have been described. It is characterized by a generalized proliferation of scattered single cells, small nodules and/or linear proliferations of pulmonary neuroendocrine cells. DIPNECH is considered a precursor to carcinoid tumor/tumorlets. There is female predominance. It is seen most often in non-smokers. It primarily affects those in their 50s and 60s. Patients can be asymptomatic or have progressive cough and dyspnea. Diagnosis is based upon obstructive or mixed pattern on spirometry, progressive fibrosis and neuroendocrine cell hyperplasia on biopsy, plus or minus HRCT with mosaic attenuation, nodular bronchial wall thickening, bronchiectasis or mucous plugging. Little is known regarding management of DIPNECH. Some treatment strategies include systemic and inhaled corticosteroids, bronchodilators, and lung resection. CONCLUSION(S): We have chronicled the youngest reported case of a rare pulmonary entity. It should be included in the differential for obstructive lung disease which fails to respond to conventional therapy. The diagnosis is multi-faceted. The goals of treatment are symptom relief and improved quality of life.