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Signs and Symptoms of Chest Diseases |

Diffuse Lung Disease and Neurofibromatosis-1—Recurrent Association, Uncertain Relationship

Timothy Nokes*, DO; Ahmed Awab, MD
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University of Oklahoma Health Science Center, Oklahoma City, OK


Chest. 2012;142(4_MeetingAbstracts):1038A. doi:10.1378/chest.1390849
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Abstract

SESSION TYPE: Miscellaneous Cases III

PRESENTED ON: Wednesday, October 24, 2012 at 11:15 AM - 12:30 PM

INTRODUCTION: Neurofibromatosis-1 (NF-1) is an autosomal-dominant neurocutaneous disorder with major clinical manifestations involving the nervous system, skin and bones (1). Since the early 1960s, there have been multiple reports noting coexistence of diffuse lung disease and NF-1 (2). Currently, no consensus exists regarding the clinical entity neurofibromatosis with diffuse lung disease (NF-DLD).

CASE PRESENTATION: A 31-year-old black male with NF-1 was admitted to the hospital with complaints of worsening cough, pleuritic chest pain and shortness of breath. No fever, chills, weight loss, hemoptysis, night sweats, joint pains, or previous environmental/occupational exposures were reported. He developed shortness of breath and cough at age 25 being diagnosed with chronic obstructive pulmonary disease with no further workup performed; frequent exacerbations requiring hospitalization have plagued him since. He began smoking at age 17, approximately half pack per day with no drug or alcohol use. On examination, chest had symmetric expansion with quiet but clear sounds bilaterally. Plain chest x-ray showed hyperinflation and upper lobe bullae bilaterally; comparison from 2007 showed bullae and hyperinflation with slight progression on new imaging. CT chest revealed giant upper lobe bullae and paraseptal-predominant emphysema diffusely; no interstitial disease was noted. Pulmonary function testing revealed normal vital capacity with moderately-severe obstructive defect. Laboratory workup was negative for HIV with normal alpha-1 antitrypsin level. The patient was treated with antibiotics and short-acting bronchodilators, discharged home with instruction for smoking cessation with follow-up in pulmonary clinic.

DISCUSSION: This patient developed impressive lung disease at age 25 with a 5 pack-year smoking history. Of note, his clinical history and CT chest are consistent with giant bullous emphysema (vanishing lung syndrome), an association not reported previously with NF-1. The question arises whether NF-1 contributed or predisposed our patient to developing lung disease. Two large patient series have looked at the relationship of NF-1 and diffuse lung disease with differing conclusions made with regards to the existence of NF-DLD (2,3).

CONCLUSIONS: We propose that NF-1 predisposes to the development of bullous emphysema beyond the effect of smoking alone. Future investigation is required searching for mechanisms by which smoking and environmental exposures contribute to early and accelerated development of bullous emphysema. The possible association of smoking with bullous emphysema should be included in counseling and treatment of patients with NF-1 and nicotine dependence.

1) Ferner, Rosalie. Lancet Neurol 2007; 6:340-51

2) Zamora et al. Eur Respir J 2007; 29:210-214

3) Ryu et al. Chest 2005; 128:2381-2386

DISCLOSURE: The following authors have nothing to disclose: Timothy Nokes, Ahmed Awab

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University of Oklahoma Health Science Center, Oklahoma City, OK

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