Table 4.

A summary of the longitudinal case reports concerning lung involvement in Fabry disease

Ref. no. and year of publ.	No. of patients	Methods	Outcome	Conclusion
(5) 2008	One female	Spirometry, biochemistry, X-ray, CT scan, open lung biopsy, initiation of ERT	Mixed restrictive/obstructive pattern, patchy ground-glass infiltrations, peribronchiolar fibrosis, and smooth-muscle cell hyperplasia. Inclusion bodies. ERT stabilised the airway obstruction	Pulmonary involvement is due to lysosomal storage on cells. Treatment with ERT was able to stabilise the airway obstruction
(8) 2007	One female	Biochemistry, spirometry, ventilation-perfusion scan, echocardiography, CT scan. Initiation of ERT	LVH, reduced diffusion capacity, a combination of ground-glass infiltrations and air trapping. Improvement of pulmonary signs but persisting opacities and air trapping after ERT	ERT might improve pulmonary signs but has no effect on ground-glass infiltrations and air trapping found on CT scan
(18) 2013	One female	Spirometry, renal biopsy, lung biopsy, biochemistry, electron microscopy	Patient with the diagnosis of COPD received a lung transplant. Later, Fabry disease was diagnosed	Rare differential diagnosis might be hidden under more common diseases. Respiratory impairment cannot be denied

All studies included physical examination and interview about past medical history.

ERT, enzyme replacement therapy; LVH, left ventricular hypertrophy; COPD, chronic obstructive pulmonary disease.