Can Lady Windermere Syndrome Go Undiagnosed for 9 Years?
Yes, Lady Windermere syndrome can absolutely remain undiagnosed for 9 years or longer, as this form of MAC lung disease characteristically progresses very slowly with insidious symptoms that often mimic chronic bronchitis or other common respiratory conditions.
Natural History and Diagnostic Delays
The nodular bronchiectatic form of MAC lung disease (Lady Windermere syndrome) has a markedly indolent course compared to cavitary disease:
- This form tends to progress much more slowly than cavitary MAC disease, requiring months to years of follow-up to demonstrate clinical or radiographic changes 1
- The symptoms are insidious, and there is often an interval of several years between the onset of illness and diagnosis 1
- One case series documented a patient with lack of diagnosis for 18 months specifically because the insidious symptoms mimicked bronchitis 2
- Among 17 cases of atypical mycobacterial infection reviewed over 14 years, the delayed diagnosis was a consistent feature 3
Why Diagnosis Is Frequently Delayed
Several factors contribute to prolonged periods without diagnosis:
- Patients often present with chronic cough, sputum production, occasional hemoptysis, intermittent febrile episodes, and gradual deterioration of general health—all nonspecific symptoms easily attributed to other conditions 3
- Sputum cultures are not sufficiently sensitive to establish the diagnosis in many patients, requiring bronchoscopic biopsies or empiric treatment in those with typical clinical and radiographic features 1
- The disease occurs predominantly in postmenopausal, nonsmoking white women without obvious predisposing lung disease, a demographic not typically suspected of having mycobacterial infection 1
- In tuberculosis-endemic countries, MAC infections may be particularly challenging to diagnose as patients are often misdiagnosed with TB 4
Clinical Implications of Delayed Diagnosis
The prolonged undiagnosed period has significant consequences:
- Even with this more indolent form of disease, death may be related to disease progression 1
- Affected patients represent a significant burden on healthcare resources over long periods of time 5
- Progressive bronchiectasis develops, with MAC infection being the primary disorder that leads to progressive airway damage rather than simple colonization of pre-existing bronchiectasis 1
Common Pitfalls
- Attributing chronic respiratory symptoms to "chronic bronchitis" or other common conditions without pursuing mycobacterial cultures
- Failing to obtain high-resolution CT imaging, which shows the characteristic nodular bronchiectasis pattern with middle lobe and lingular predominance 1
- Not recognizing that intermittent isolation of MAC with other pathogens (which occurs in some cases) still warrants consideration of MAC as a primary pathogen 5
- Underestimating the syndrome's frequency, as it remains significantly underdiagnosed 5