Natural history of the respiratory involvement in Anderson–Fabry disease

Magage, Sudheera; Lubanda, Jean-Claude; Susa, Z; Bultas, Jan; Karetová, Debora; Dobrovolný, Robert; Hřebı́ček, Martin; Germain, Dominique P.; Linhart, Aleš

doi:10.1007/s10545-007-0616-9

Cited by 56 publications

(54 citation statements)

References 19 publications

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“…In men, a significant decrease in all spirometric variables, including a reduced diffusion capacity, has been observed compared with unaffected controls (Magage et al 2007), while women have decreased percent fixed vital capacity. The primary mechanism is likely to be Gb3 accumulation within the endothelial and bronchial smooth muscle cells resulting in hyperplasia of the pulmonary small airways combined with impaired smooth muscle relaxation (Magage et al 2007;Raiman and Clarke 2010;Franzen et al 2013).…”

Section: Introductionmentioning

confidence: 88%

Sleep Disturbance, Obstructive Sleep Apnoea and Abnormal Periodic Leg Movements: Very Common Problems in Fabry Disease

et al. 2016

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Objectives: To assess the prevalence of sleep disorder(s) in males with Fabry disease and explore possible association with disease phenotype.Background: Fabry disease, an X-linked lysosomal storage disease caused by deficiency in a-galactosidase, results in intracellular accumulation of globotriaosylceramide. It causes organ dysfunction, most significantly affecting renal, cerebrovascular and cardiovascular systems. Respiratory involvement may include obstructive lung disease, reduced diffusing capacity and thickened soft and hard palates. Patients commonly develop small-fibre sensory peripheral neuropathy manifested by acroparaesthesia and pain crises. Combined with self-reported sleep disturbance and snoring, these features suggest an increased risk of sleep disorders.Methods: In-laboratory polysomnography (PSG) studies and sleep inventory assessments, including Epworth Sleepiness Scale (ESS), were performed in a cohort of male Fabry patients. PSGs were reviewed by a sleep physician. Sleep-disordered breathing and periodic leg movements were targeted for analysis. Associations with renal, cardiovascular and cerebrovascular function were sought.Results: Twenty males underwent overnight PSG. Patient baseline characteristics included age 43.9 AE 10.7 years, BMI 24.3 AE 3.8 kg/m 2 , neck circumference 39.7 AE 3.3 cm and ESS 9.8 AE 5.1 (7/20, abnormal ESS >10). Abnormal periodic leg movement index (PLMI) was present in 95% (mean frequency 42.4 AE 28.5/min) and sleep-disordered breathing in 50% patients. Periodic leg movements were associated with pain and depression but not with increased cortical arousal.Conclusions: Sleep-disordered breathing and abnormal PLMI are highly prevalent in patients with FD.

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Section: Introductionmentioning

confidence: 88%

Sleep Disturbance, Obstructive Sleep Apnoea and Abnormal Periodic Leg Movements: Very Common Problems in Fabry Disease

et al. 2016

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“…Hence, in patients with FD, mainly small and medium sized bronchi, and potentially other pulmonary structures may become involved with ongoing disease process [20]. Additionally, the typical radiological feature of small airway disease have been shown in the case report by Kim et al demonstrating bilaterally severe mosaic attenuation pattern, which is due to a combination of ground-glass opacities and air trapping [13].…”

Section: Pulmonary Involvement In Fabry Disease -A Matter Of Bronchiomentioning

confidence: 95%

“…Of these, nine (36%; including five smokers) were found to have significant airway obstruction on spirometry, which was considered to be the result from fixed narrowing of the airway by accumulated glycosphingolipids [15]. Later studies confirmed the evidence of pulmonary involvement in terms of obstructive lung disease in patients with FD [16][17][18][19][20].…”

Section: Historical Backgroundmentioning

confidence: 99%

“…Anyway, the presence of obstructive impairment seems to be strongly age-dependent [15,17]. In two recent studies, the significant age-related reduction of predicted lung volumes could be stated in hemizygous males only, while the impact of age could not be affirmed in heterozygous women [18,20]. The same authors suspected a nonlinear progression of the obstructive lung defect in terms of accelerated decline in FEV1 of about 40 ml per year in male Fabry patients.…”

Section: Smokingmentioning

confidence: 99%

“…Though the pulmonary involvement of FD primarily features obstructive airway disease, the lung interstitium may be concerned in later stages of the disease process [20]. Accordingly, Koskenvuo et al described two out of seventeen Fabry patients with morphological changes in thoracic HRCT showing mild to marked pulmonary fibrosis.…”

Section: Interstitial Lung Diseasementioning

confidence: 99%

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Pulmonary involvement in Fabry disease: Overview and perspectives

Franzen

Krayenbuehl

Lidove

et al. 2013

European Journal of Internal Medicine

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Fabry disease (FD) is an X-linked lysosomal storage disorder caused by deficiency of alphagalactosidase A, which leads to storage of sphingolipids in virtually all human cells and consequently to organ dysfunction. Pulmonary involvement is still debated. But, obstructive lung disease is up to ten times more prevalent in patients with FD compared to general public. Also, an accelerated decline in forced expiratory volume in one second (FEV1) over time was observed in these patients. Lysosomal storage of glycosphingolipids is considered leading to small airway disease via hyperplasia of the bronchiolar smooth muscle cells. Larger airways may become involved with ongoing disease process. There is no evidence for involvement of the lung interstitium in FD. The effect of enzyme replacement therapy on respiratory involvement remains to be determined in large, prospective controlled trials. AbstractFabry disease (FD) is an X-linked lysosomal storage disorder caused by deficiency of alpha-

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An expert consensus document on the management of cardiovascular manifestations of Fabry disease

Linhart

Germain

Olivotto

et al. 2020

European J of Heart Fail

131

119

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Fabry disease (FD) is an X-linked lysosomal storage disorder caused by pathogenic variants in the-galactosidase A (GLA) gene that leads to reduced or undetectable-galactosidase A enzyme activity and progressive accumulation of globotriaosylceramide and its deacylated form globotriaosylsphingosine in cells throughout the body. FD can be multisystemic with neurological, renal, cutaneous and cardiac involvement or be limited to the heart. Cardiac involvement is characterized by progressive cardiac hypertrophy, fibrosis, arrhythmias, heart failure and sudden cardiac death. The cardiac management of FD requires specific measures including enzyme replacement therapy or small pharmacological chaperones in patients carrying amenable pathogenic GLA gene variants and more general management of cardiac symptoms and complications. In this paper, we summarize current knowledge of FD-related heart disease and expert consensus recommendations for its management.

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Natural history of the respiratory involvement in Anderson–Fabry disease

Abstract: We have demonstrated a clinically relevant age- and sex-dependent progressive pulmonary involvement in AFD patients. The effects of enzyme replacement therapy on pulmonary involvement remain to be demonstrated.

Cited by 56 publications

References 19 publications

Sleep Disturbance, Obstructive Sleep Apnoea and Abnormal Periodic Leg Movements: Very Common Problems in Fabry Disease

Sleep Disturbance, Obstructive Sleep Apnoea and Abnormal Periodic Leg Movements: Very Common Problems in Fabry Disease

Pulmonary involvement in Fabry disease: Overview and perspectives

An expert consensus document on the management of cardiovascular manifestations of Fabry disease

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