Lung Symptoms

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Lungs

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Lung cysts. Courtesy of Urologic Oncology Branch, National Cancer Institute. NIH

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Lung cysts (see stars). Courtesy of Urologic Oncology Branch, National Cancer Institute. NIH

Introduction
Spontaneous Pneumothorax related to BHD
Spontaneous pneumothorax not related to BHD
Familial Spontaneous Pneumothoraxes not related to BHD
Sources

Introduction

If you have been diagnosed with Birt-Hogg-Dubé syndrome, it is possible that you have, or could develop lung cysts, (blebs).

In some BHD families, these lung or pulmonary cysts are related to incidences of Spontaneous Pneumothoraces, or collapsed lungs. Lung collapses are related to other syndromes or family conditions and are not limited to BHD. Infact, spontaneous pneumothoraces that are entirely unrelated to BHD or to any particular syndrome have been known to happen. This is why it is important to find out if you or your family members do have the Birt-Hogg-Dubé Syndrome. Having one or more family members who have had one or more collapsed lungs does not mean that your family has BHD. The only way to know for sure would be to have the diagnostic gene test.

Lung cysts

Lung cysts are also called pulmonary cysts, lung blebs, bullae, and they can be detected by CT scans of the lungs. They are sacs that are filled with air, and they are likely to break, or rupture. This air sac can create pressure, and sometimes air leaks out into the lung cavity, Part of the lung or the whole lung may collapse. With BHD, this can be so subtle a feeling that you are not aware of it.

Or, you may feel chest pains and be short of breath. Your chest may feel constricted, and you could feel the urge to cough. Your cough would be dry, not full of phlegm. If you experience these symptoms, you should go to the Emergency Room in a hospital. Your heart may feel like it is beating quickly, and sometimes it could be difficult for you to know the difference between this and a heart attack. That is why it is important to get expert medical help.

Lung blebs are one of the most prevalent symptoms of BHD in some families, while others are hardly aware of their existence.

There are many different BHD mutations, and some researchers believe that future research will show that there is a connection between the likelihood of a lung collapse and the number of lung blebs found in any one person, and the location of these lung blebs. More information is needed to determine this.

If you have lung cysts, it is advisable to avoid high altitudes, scuba diving, and flying in unpressurized air planes. You may want to discuss air travel with your doctor. For more information on treatment, see the Lung treatment section.

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Spontaneous Pneumothorax related to BHD

In 2007, and article about the Birt-Hogg-Dubé syndrome presented data suggesting that a little less than one fourth of those with BHD have experienced one or more a pneumothoraces. The size and number of lung cysts were related to the pneumothoraces. Although smoking is often a factor in non-BHD related pneumothoraces, a majority of BHD –related pneumothoraces occurred in non-smokers.

It is likely that those with BHD will have not just one, but multiple spontaneous pneumothoraces. Both men and women seem to be fairly equally affected, while in the general population, men are more likely to have them.

Spontaneous pneumothoraces were most likely to occur in the right lung in all those with BHD according to the study conducted by Toro et al.

There has been no record of any case of bilateral spontaneous pneumothoraces, that is to say pneumothoraces occurring at the same time. However, there are people who have had collapses in both lungs at different times.

The youngest age reported for a pneumothorax in a BHD family member is 21; the oldest is over 70 this appears to be an adult manifestation of BHD. 6% of all those with the Birt-Hogg-Dubé syndrome will have a collapsed lung by the time they are thirty years old. This goes up to 14% for people who are 40, and 75% for those who are 50. These figures refer to members of the 89 BHD families from the 2007 study.

Overall, about 10% of all cases of spontaneous pneumothoraces have a familial (hereditary) background.
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Spontaneous pneumothorax not related to BHD

There have been cases of sporadic lung collapses. These occurrences are rare. A background of smoking may make someone more liable to having a spontaneous pneumothorax. Height and sex are also important. For example, a tall, thin, Caucasian male is perhaps more prone to have a lung collapse than other members of the general population.
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Familial Spontaneous Pneumothoraxes not related to BHD

Sometimes cases of spontaneous pneumothorax may be a manifestation of a hereditary condition that is not the Birt-Hogg-Dubé Syndrome. Examples of these conditions include:

Sources

  • Lung cysts, spontaneous pneumothorax, and genetic associations in 89 families with Birt-Hogg-Dubé syndrome.
    Toro JR, Pautler SE, Stewart L, Glenn GM, Weinreich M, Toure O, Wei MH, Schmidt LS, Davis L, Zbar B, Choyke P, Steinberg SM, Nguyen DM, Linehan WM.
    Am J Respir Crit Care Med. 2007 May 15;175(10):1044-53. Epub 2007 Feb 22.
  • Nonsense Mutations in Folliculin Presenting as Isolated Familial Spontaneous Pneumothorax in Adults
    Randall B. Graham, Melissa Nolasco, Borut Peterlin and Christine Kim Garcia. Division of Pulmonary and Critical Care Medicine, Eugene McDermott Center for Human Growth and Development, University of Texas Southwestern Medical Center, Dallas, Texas; and Division of Medical Genetics, University Medical Center Ljublijana, Ljublijana, Slovenia
  • Evaluation and management of renal tumors in the Birt-Hogg-Dube syndrome.
    Pavlovich CP, Grubb RL 3rd, Hurley K, Glenn GM, Toro J, Schmidt LS, Torres-Cabala C, Merino MJ, Zbar B, Choyke P, Walther MM, Linehan WM.
  • American Lung Association
  • Pneumothorax, Iatrogenic, Spontaneous and Pneumomediastinum
  • Lung Diseases
  • Do you know this syndrome?