Case Reports: Wednesday, November 3, 2010 |

A Rare Diagnosis in a 70-Year-Old: Cystic Fibrosis FREE TO VIEW

Smitha Gopinath, DO; Smita Shah, MD; Dorothy Bisberg, MD
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Newark Beth Israel Medical Center, Newark, NJ

Chest. 2010;138(4_MeetingAbstracts):131A. doi:10.1378/chest.10919
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INTRODUCTION: We report the case of a 70 year old patient who was diagnosed with cystic fibrosis (CF). CF is primarily diagnosed in childhood or early adulthood with a median survival of 37.9 years. Currently the disease is diagnosed by newborn screening, with a median age of diagnosis at 6 months. It is very rare for a patient to be diagnosed this late in life.

CASE PRESENTATION: A 70 year old Jewish woman of Russian/Austrian descent presented with a complaint of recurrent lower respiratory tract and sinus infections for many years. She was previously diagnosed as having hyper-reactive airways. She denied any exertional dyspnea or wheezing and had no constitutional symptoms. Her symptoms were isolated to only her respiratory system. She had remote second hand exposure to smoke, and had no known exposure to tuberculosis, asbestosis or toxic fumes. She has 3 living children with children of their own. She was born and brought up in New Jersey. Workup included a chest x-ray and subsequent CT scan of the chest which revealed mild bronchiectatic changes. PFT showed small airway disease and air trapping. Laboratory analysis revealed normal cell counts, eosinophils and Immunoglobulin E levels. Skin testing for tuberculosis was negative. Two Sweat tests revealed greater than 60 milliequivalent per liter chloride levels. Genetic analysis showed heterozygous W1282X mutation and homozygous 5T polymorphism in the intron 8 of the CFTR gene, which causes a functional deficiency in cystic fibrosis transmembrane conductance regulator (CFTR) protein. On this basis the patient was diagnosed with cystic fibrosis and started on a treatment regimen.

DISCUSSIONS: Cystic Fibrosis is the most common lethal autosomal recessive disease among Caucasians. It occurs in approximately 1 in 3000 Caucasians, 1 in 9200 Hispanics, 1 in 10,900 Native Americans, 1 in 15,000 African Americans and 1 in 30,000 Asians. The Cystic Fibrosis Foundation registry between 1995 and 2005 shows a mean of 888 new diagnoses per year. 85.6% of patients were less than 12, 6.1% of patients were between 12 and 18, and only 8.3% patients are diagnosed in adulthood. Diagnosis at age 70 is rare. CF is caused by mutations in the CFTR protein, a complex chloride channel and regulatory protein found in all exocrine tissues. The typical CF patient presents with multisystem disease involving several systems including respiratory, gastrointestinal, and genitourinary. However, many patients demonstrate mild symptoms or have manifestations in only one organ system and physicians should remain alert of the possibility of CF as with this patient.

CONCLUSION: Although CF is a disease with no cure at present, there have been major advances that have resulted in improved quality of life and life expectancy. CF was a disease managed only by pediatricians in the 1980s, when the life expectancy was 18 years. Now with the median life expectancy of 37.9 years, internists and adult pulmonologist are increasingly involved in the care. With the improved multi-disciplinary care and early diagnosis, it is not far-fetched to speculate that in the recent future geriatricians too will be providing care for CF patients. This patient presented with recurrent lower respiratory tract infection, sinusitis and bronchiectasis. At this age group without a high clinical suspicion this diagnosis would have been missed. With the appropriate treatment of antibiotic therapy, airway clearance and nutritional support at a cystic fibrosis clinic, both her quality of life and life expectancy can be improved.

DISCLOSURE: Smitha Gopinath, No Financial Disclosure Information; No Product/Research Disclosure Information

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RatjenF , Doring, G.2003; Cystic Fibrosis.Lancet361,681. [CrossRef]
Claire L Keting, MD, Xinhua Liu, PhD, Emily A. DiMango, MD. Chest May 2010; 137:1157-1163.




RatjenF , Doring, G.2003; Cystic Fibrosis.Lancet361,681. [CrossRef]
Claire L Keting, MD, Xinhua Liu, PhD, Emily A. DiMango, MD. Chest May 2010; 137:1157-1163.
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