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Winston Salem, NC
Dr. Rubin is Professor and Vice-Chair, Department of Pediatrics, and Professor of Biomedical Engineering, Physiology, and Pharmacology, Wake Forest University School of Medicine.
Correspondence to: Bruce K. Rubin, MEngr, MD, MBA, FCCP, Professor and Vice-Chair, Department of Pediatrics, Professor of Biomedical Engineering, Physiology, and Pharmacology, Wake Forest University School of Medicine, Medical Center Blvd, Winston-Salem, NC 27157-1081; e-mail: brubin{at}wfubmc.edu
In 1992, Drs. Jerome Reich and Richard Johnson described six women with nontuberculous mycobacteria (NTM) pulmonary disease presenting with lingular or middle lobe bronchiectasis. They hypothesized that fastidious behavior in these women may have prevented them from expectorating frequently enough to clear their airways of infected secretions and that this predisposed them to the development of bronchiectasis.1 They named this "Lady Windermere syndrome," after the protagonist of Oscar Wilde’s play Lady Windermere’s Fan, first published in 1892.
Since that time, NTM infection has become recognized as a significant problem in patients with cystic fibrosis (CF). Infection with NTM can lead to rapid clinical deterioration in some persons with CF, while others appear to harbor this organism for years without obvious ill effect.23 In this issue of CHEST (see page 995), Ziedalski and colleagues4 hypothesized that adults who had bronchiectasis or NTM infection may have abnormalities of the CF transmembrane ion regulator (CFTR) gene that causes CF. They prospectively evaluated 50 subjects with a bronchiectasis and/or pulmonary NTM infection, and performed sweat chloride measurement, comprehensive mutation analysis of CFTR, and sputum cultures. Based on these results, they made a de novo diagnosis of CF in 20% of these patients and identified three novel CTFR mutations. Furthermore, 30 CFTR mutations were identified in 24 of the subjects, giving a 48% prevalence of CFTR mutations in this cohort, although elevated sweat chloride was only measured in 7 of these subjects. The subjects with CF were more likely to have mucus plugging on high-resolution CT scans, and the women with CF had a significantly lower body mass index than the non-CF subjects, but there appeared to be no other specific signs or symptoms that might be clues to the CF diagnosis. This important study provides new insight to the pathogenesis both of CF and of NTM disease.
Considering that people with neuromuscular weakness and an inability to generate effective cough do not typically develop NTM infection, it seems much more likely that patients with Lady Windermere syndrome would have CF or be carriers of a CFTR mutation than develop NTM disease because of fastidiousness. This brings us back to the question, "Did Lady Windermere have CF"?
It has become a cottage industry to diagnose "modern" diseases in historical figures who had unusual deaths, chronic illness, or physiognomy consistent with specific conditions. On the basis of extremely postmortem evaluations, Abraham Lincoln has been thought to have had Marfan syndrome,5 and to the point of this editorial, the Polish-French composer, Frederick Chopin, may have had CF.67 Although, the diagnosis of chronic illness in the long dead is an interesting blend of medicine and history, diagnosing disease in fictional characters falls under the realm of creative imagination. As the librarian, Emily Drew, pointed out in a letter to CHEST in December 2002, in Wilde’s play, Lady Windermere was a vivacious young women, married only 2 years who never coughs or displays any other signs of illness.8 She not only appears to have excellent health, but she does not seem exceptionally prissy. Thus, it is not such a Wilde assumption that Lady Windermere most certainly does not appear to have either CF or even her eponymous syndrome. While I mourn the passing of a literary eponym, I applaud the contribution to our understanding of this disease by Ziedalski and colleagues.4 The diagnosis of CF has profound implications for medical therapy, genetic counseling, male fertility, insurance, etc. Therefore, this article would present a strong argument that all adults with bronchiectasis of unknown ideology or NTM without documented immunodeficiency should be tested for CF by sweat chloride and CFTR genetic analysis.
Footnotes
The author has no conflicts of interest to declare.
References
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