Limits...
Fabry disease, respiratory symptoms, and airway limitation - a systematic review.

Svensson CK, Feldt-Rasmussen U, Backer V - Eur Clin Respir J (2015)

Bottom Line: Fibrosis diagnosed by high-resolution CT has not been significantly correlated with lung spirometry.Consistent findings have not been shown in the current literature.Further studies are needed to evaluate pathogenesis, progression, and the effects of treatment.

View Article: PubMed Central - PubMed

Affiliation: Department of Respiratory Medicine, Bispebjerg Hospital, Copenhagen, Denmark.

ABSTRACT

Background: Fabry disease is an X-linked disorder caused by a deficiency of the lysosomal enzyme α-galactosidase A, resulting in accumulation of glycosphingolipids in multiple organs, primarily heart, kidneys, skin, CNS, and lungs.

Materials and method: A systematic literature search was performed using the PubMed database, leading to a total number of 154 hits. Due to language restriction, this number was reduced to 135; 53 papers did not concern Fabry disease, 19 were either animal studies or gene therapy studies, and 36 papers did not have lung involvement in Fabry disease as a topic. The remaining 27 articles were relevant for this review.

Results: The current literature concerning lung manifestations describes various respiratory symptoms such as dyspnoea or shortness of breath, wheezing, and dry cough. These symptoms are often related to cardiac involvement in Fabry disease as respiratory examinations are seldom performed. Pulmonary function tests primarily show obstructive airway limitation, but a few articles also report of patients with restrictive limitation and a mixture of both. No significant association has been found between smoking and the development of symptoms or spirometry abnormalities in patients with Fabry disease. Electron microscopy of lung biopsy and induced sputum show lamellar inclusion bodies (Zebra bodies) in the cytoplasm of cells in the airway wall. X-ray and CT scan have shown patchy ground-glass pulmonary infiltrations, fibrosis, and air trapping. Fibrosis diagnosed by high-resolution CT has not been significantly correlated with lung spirometry.

Conclusion: Consistent findings have not been shown in the current literature. Pulmonary function tests and registration of symptoms showed various results; however, there is a trend towards obstructive airway limitation in patients with Fabry disease. Further studies are needed to evaluate pathogenesis, progression, and the effects of treatment.

No MeSH data available.


Related in: MedlinePlus

Flow chart illustrating the systematic literature search.
© Copyright Policy - open-access
Related In: Results  -  Collection

License
getmorefigures.php?uid=PMC4629719&req=5

Figure 0002: Flow chart illustrating the systematic literature search.

Mentions: Of 135 papers, 108 were excluded due to the above-mentioned criteria, whereas the remaining 27 articles were relevant and have been used in this review. None of the 27 papers were written in a Nordic language. Figure 2 illustrates the literature search.


Fabry disease, respiratory symptoms, and airway limitation - a systematic review.

Svensson CK, Feldt-Rasmussen U, Backer V - Eur Clin Respir J (2015)

Flow chart illustrating the systematic literature search.
© Copyright Policy - open-access
Related In: Results  -  Collection

License
Show All Figures
getmorefigures.php?uid=PMC4629719&req=5

Figure 0002: Flow chart illustrating the systematic literature search.
Mentions: Of 135 papers, 108 were excluded due to the above-mentioned criteria, whereas the remaining 27 articles were relevant and have been used in this review. None of the 27 papers were written in a Nordic language. Figure 2 illustrates the literature search.

Bottom Line: Fibrosis diagnosed by high-resolution CT has not been significantly correlated with lung spirometry.Consistent findings have not been shown in the current literature.Further studies are needed to evaluate pathogenesis, progression, and the effects of treatment.

View Article: PubMed Central - PubMed

Affiliation: Department of Respiratory Medicine, Bispebjerg Hospital, Copenhagen, Denmark.

ABSTRACT

Background: Fabry disease is an X-linked disorder caused by a deficiency of the lysosomal enzyme α-galactosidase A, resulting in accumulation of glycosphingolipids in multiple organs, primarily heart, kidneys, skin, CNS, and lungs.

Materials and method: A systematic literature search was performed using the PubMed database, leading to a total number of 154 hits. Due to language restriction, this number was reduced to 135; 53 papers did not concern Fabry disease, 19 were either animal studies or gene therapy studies, and 36 papers did not have lung involvement in Fabry disease as a topic. The remaining 27 articles were relevant for this review.

Results: The current literature concerning lung manifestations describes various respiratory symptoms such as dyspnoea or shortness of breath, wheezing, and dry cough. These symptoms are often related to cardiac involvement in Fabry disease as respiratory examinations are seldom performed. Pulmonary function tests primarily show obstructive airway limitation, but a few articles also report of patients with restrictive limitation and a mixture of both. No significant association has been found between smoking and the development of symptoms or spirometry abnormalities in patients with Fabry disease. Electron microscopy of lung biopsy and induced sputum show lamellar inclusion bodies (Zebra bodies) in the cytoplasm of cells in the airway wall. X-ray and CT scan have shown patchy ground-glass pulmonary infiltrations, fibrosis, and air trapping. Fibrosis diagnosed by high-resolution CT has not been significantly correlated with lung spirometry.

Conclusion: Consistent findings have not been shown in the current literature. Pulmonary function tests and registration of symptoms showed various results; however, there is a trend towards obstructive airway limitation in patients with Fabry disease. Further studies are needed to evaluate pathogenesis, progression, and the effects of treatment.

No MeSH data available.


Related in: MedlinePlus