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Familial spontaneous pneumothorax(PSP)

MedGen UID:
357445
Concept ID:
C1868193
Disease or Syndrome
Synonyms: Pneumothorax, primary spontaneous; PSP
SNOMED CT: Primary spontaneous pneumothorax (328561000119107)
Modes of inheritance:
Autosomal dominant inheritance
MedGen UID:
141047
Concept ID:
C0443147
Intellectual Product
Source: Orphanet
A mode of inheritance that is observed for traits related to a gene encoded on one of the autosomes (i.e., the human chromosomes 1-22) in which a trait manifests in heterozygotes. In the context of medical genetics, an autosomal dominant disorder is caused when a single copy of the mutant allele is present. Males and females are affected equally, and can both transmit the disorder with a risk of 50% for each child of inheriting the mutant allele.
 
Gene (location): FLCN (17p11.2)
 
Monarch Initiative: MONDO:0008259
OMIM®: 173600
Orphanet: ORPHA2903

Definition

Primary spontaneous pneumothorax (PSP) is a condition in which air enters the pleural space and causes secondary lung collapse. It is mostly sporadic but also occurs in families. It is associated with bullae in the lungs of most patients (summary by Painter et al., 2005). Birt-Hogg-Dube syndrome (BHD; 135150), which is characterized by spontaneous pneumothorax as well as by fibrofolliculomas of the skin and increased risk of renal and colonic tumors, is also caused by mutation in the FLCN gene. Gunji et al. (2007) suggested that isolated primary spontaneous pneumothorax associated with FLCN mutations may be part of the clinical spectrum of BHD, showing incomplete disease penetrance. Spontaneous pneumothorax is a complication of certain heritable disorders of connective tissue, particularly the Marfan syndrome (154700) and the Ehlers-Danlos syndrome (see, e.g., 130000). Pulmonary bullae can also occur with alpha-1-antitrypsin deficiency (613490). [from OMIM]

Additional description

From MedlinePlus Genetics
Primary spontaneous pneumothorax is an abnormal accumulation of air in the space between the lungs and the chest cavity (called the pleural space) that can result in the partial or complete collapse of a lung. This type of pneumothorax is described as primary because it occurs in the absence of lung disease such as emphysema. Spontaneous means the pneumothorax was not caused by an injury such as a rib fracture. Primary spontaneous pneumothorax is likely due to the formation of small sacs of air (blebs) in lung tissue that rupture, causing air to leak into the pleural space. Air in the pleural space creates pressure on the lung and can lead to its collapse. A person with this condition may feel chest pain on the side of the collapsed lung and shortness of breath.

Blebs may be present on an individual's lung (or lungs) for a long time before they rupture. Many things can cause a bleb to rupture, such as changes in air pressure or a very sudden deep breath. Often, people who experience a primary spontaneous pneumothorax have no prior sign of illness; the blebs themselves typically do not cause any symptoms and are visible only on medical imaging. Affected individuals may have one bleb to more than thirty blebs. Once a bleb ruptures and causes a pneumothorax, there is an estimated 13 to 60 percent chance that the condition will recur.  https://medlineplus.gov/genetics/condition/primary-spontaneous-pneumothorax

Clinical features

From HPO
Spontaneous pneumothorax
MedGen UID:
57701
Concept ID:
C0149781
Disease or Syndrome
Pneumothorax occurring without traumatic injury to the chest or lung.

Term Hierarchy

CClinical test,  RResearch test,  OOMIM,  GGeneReviews,  VClinVar  
  • CROGVFamilial spontaneous pneumothorax
Follow this link to review classifications for Familial spontaneous pneumothorax in Orphanet.

Professional guidelines

PubMed

Grimes HL, Holden S, Babar J, Karia S, Wetscherek MT, Barker A, Herre J, Knolle MD, Maher ER; Genomics England Research Consortium, Marciniak SJ
Thorax 2022 Feb;77(2):196-198. Epub 2021 Jun 18 doi: 10.1136/thoraxjnl-2021-217210. PMID: 34145047Free PMC Article

Recent clinical studies

Etiology

Grimes HL, Holden S, Babar J, Karia S, Wetscherek MT, Barker A, Herre J, Knolle MD, Maher ER; Genomics England Research Consortium, Marciniak SJ
Thorax 2022 Feb;77(2):196-198. Epub 2021 Jun 18 doi: 10.1136/thoraxjnl-2021-217210. PMID: 34145047Free PMC Article
Zhu JF, Shen XQ, Zhu F, Tian L
QJM 2017 Jan;110(1):23-26. Epub 2016 Aug 2 doi: 10.1093/qjmed/hcw109. PMID: 27486260
Cho MH, Klanderman BJ, Litonjua AA, Sparrow D, Silverman EK, Raby BA
BMC Med Genet 2008 Dec 30;9:120. doi: 10.1186/1471-2350-9-120. PMID: 19116017Free PMC Article
Graham RB, Nolasco M, Peterlin B, Garcia CK
Am J Respir Crit Care Med 2005 Jul 1;172(1):39-44. Epub 2005 Apr 1 doi: 10.1164/rccm.200501-143OC. PMID: 15805188
Kugelman A, Riskin A, Weinger-Abend M, Bader D
Pediatr Pulmonol 2003 Jul;36(1):69-72. doi: 10.1002/ppul.10283. PMID: 12772227

Diagnosis

Grimes HL, Holden S, Babar J, Karia S, Wetscherek MT, Barker A, Herre J, Knolle MD, Maher ER; Genomics England Research Consortium, Marciniak SJ
Thorax 2022 Feb;77(2):196-198. Epub 2021 Jun 18 doi: 10.1136/thoraxjnl-2021-217210. PMID: 34145047Free PMC Article
Liu Y, Xing H, Huang Y, Meng S, Wang J
Eur J Cardiothorac Surg 2020 Jan 1;57(1):39-45. doi: 10.1093/ejcts/ezz171. PMID: 31177286
Genc Yavuz B, Guzel Tanoglu E, Salman Yılmaz S, Colak S
Mol Genet Genomic Med 2019 Dec;7(12):e1003. Epub 2019 Oct 18 doi: 10.1002/mgg3.1003. PMID: 31625278Free PMC Article
Boone PM, Scott RM, Marciniak SJ, Henske EP, Raby BA
Am J Respir Crit Care Med 2019 Jun 1;199(11):1344-1357. doi: 10.1164/rccm.201807-1212CI. PMID: 30681372Free PMC Article
Sundaram S, Tasker AD, Morrell NW
Eur Respir J 2009 Jun;33(6):1510-2. doi: 10.1183/09031936.00062608. PMID: 19483054

Prognosis

Nahorski MS, Reiman A, Lim DH, Nookala RK, Seabra L, Lu X, Fenton J, Boora U, Nordenskjöld M, Latif F, Hurst LD, Maher ER
Hum Mutat 2011 Aug;32(8):921-9. Epub 2011 Jul 12 doi: 10.1002/humu.21519. PMID: 21538689
Graham RB, Nolasco M, Peterlin B, Garcia CK
Am J Respir Crit Care Med 2005 Jul 1;172(1):39-44. Epub 2005 Apr 1 doi: 10.1164/rccm.200501-143OC. PMID: 15805188
Kugelman A, Riskin A, Weinger-Abend M, Bader D
Pediatr Pulmonol 2003 Jul;36(1):69-72. doi: 10.1002/ppul.10283. PMID: 12772227

Clinical prediction guides

Zhu JF, Shen XQ, Zhu F, Tian L
QJM 2017 Jan;110(1):23-26. Epub 2016 Aug 2 doi: 10.1093/qjmed/hcw109. PMID: 27486260
Ray A, Paul S, Chattopadhyay E, Kundu S, Roy B
Lung 2015 Jun;193(3):433-8. Epub 2015 Apr 1 doi: 10.1007/s00408-015-9723-9. PMID: 25827758
Nahorski MS, Reiman A, Lim DH, Nookala RK, Seabra L, Lu X, Fenton J, Boora U, Nordenskjöld M, Latif F, Hurst LD, Maher ER
Hum Mutat 2011 Aug;32(8):921-9. Epub 2011 Jul 12 doi: 10.1002/humu.21519. PMID: 21538689
Cho MH, Klanderman BJ, Litonjua AA, Sparrow D, Silverman EK, Raby BA
BMC Med Genet 2008 Dec 30;9:120. doi: 10.1186/1471-2350-9-120. PMID: 19116017Free PMC Article
Graham RB, Nolasco M, Peterlin B, Garcia CK
Am J Respir Crit Care Med 2005 Jul 1;172(1):39-44. Epub 2005 Apr 1 doi: 10.1164/rccm.200501-143OC. PMID: 15805188

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