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A delayed diagnosis of Mounier-Kuhn syndrome.

ABSTRACT: Following a provisional diagnosis of asthma of several years' duration by his general practitioner, a 43-year-old otherwise healthy man who was a non-smoker was referred to a pulmonologist with worsening productive cough and exertional breathlessness. A thoracic CT scan revealed dilated airways (tracheal diameter 35?mm, left bronchial diameter 20?mm, right bronchial diameter 18?mm). Inflamed and easily collapsible airways were seen on bronchoscopy. The patient remained stable and was followed up with regular spirometry. A follow-up CT scan 7?years later showed tracheobronchomegaly (tracheal diameter 42?mm, left bronchial diameter 25?mm, right bronchial diameter 23?mm) with large cystic spaces consistent with Mounier-Kuhn syndrome. Repeat bronchoscopy showed a massively dilated trachea and generalised collapse on expiration with a dilated thin-walled bronchial tree. He was deemed ineligible for lung transplantation due to the extent of airway involvement making it difficult to anastomose donor lung to native tissue.

SUBMITTER: Gouder C

PROVIDER: S-EPMC4054406 | biostudies-other | 2014

REPOSITORIES: biostudies-other

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A delayed diagnosis of Mounier-Kuhn syndrome.

Gouder Caroline C Bilocca David D Fsadni Peter P Montefort Stephen S

BMJ case reports 20140602

Following a provisional diagnosis of asthma of several years' duration by his general practitioner, a 43-year-old otherwise healthy man who was a non-smoker was referred to a pulmonologist with worsening productive cough and exertional breathlessness. A thoracic CT scan revealed dilated airways (tracheal diameter 35 mm, left bronchial diameter 20 mm, right bronchial diameter 18 mm). Inflamed and easily collapsible airways were seen on bronchoscopy. The patient remained stable and was followed up ...[more]

PMID: 24891495

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Project description:BackgroundBirt-Hogg-Dubé syndrome is a rare genetic tumor syndrome characterized by renal cell cancer, lung bullae, pneumothorax, and fibrofolliculoma. Patients with such orphan tumor disorders are at risk of not receiving a timely diagnosis. In the present, gender-sensitive study, we analyzed the delay between onset of symptoms and diagnosis of Birt-Hogg-Dubé syndrome.MethodsClinical data of 158 patients from 91 unrelated families were collected. FLCN mutation testing was performed in index patients and family members.FindingsThe occurrence of the first symptom (fibrofolliculoma, pneumothorax or renal cell cancer) was rarely followed by a timely diagnosis of Birt-Hogg-Dubé syndrome and did so significantly less often in female (1.3%) compared to male (11.4%) patients (chi-square 6.83, p-value 0.009). Only 17 out of 39 renal cell cancers (7/17 female, 10/22 male patients) were promptly recognized as a symptom of Birt-Hogg-Dubé syndrome. Patients in which renal cell cancer was initially not recognized as a symptom of Birt-Hogg-Dubé syndrome waited 9.7 years (females SD 9.2, range 1-29) and 8.8 years (males, SD 4.1, range 2-11) for their diagnosis, respectively. Four (three female, one male) patients developed renal cell cancer twice before the genetic tumor syndrome was diagnosed. The delay between fibrofolliculoma or pneumothorax as a first symptom and diagnosis of Birt-Hogg-Dubé syndrome was considerable but not significantly different between females and males (18.1/17.19 versus 16.1/18.92 years). Furthermore, 73 patients were only diagnosed due to family history (delay 15.1 years in females and 17.4 years in males).InterpretationThe delay between onset of symptoms and diagnosis of Birt-Hogg-Dubé syndrome can be substantial and gender-dependent, causing considerable health risks for patients and their families. It is therefore important to create more awareness of Birt-Hogg-Dubé syndrome and resolve gender biases in diagnostic work-up.FundingNone declared.

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A delayed diagnosis of Mounier-Kuhn syndrome.

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A delayed diagnosis of Mounier-Kuhn syndrome.

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