Prevalence and Risk Factors of Sleep Disordered Breathing in Fabry disease

Abstract

Excessive daytime sleepiness (EDS) is a frequently reported and not well-understood symptom in patients with Fabry disease (FD). Sleep-disordered breathing (SDB) is a possible factor. As deposition of glycosphingolipids in the upper airway muscles is likely, we hypothesized that obstructive sleep apnoea (OSA) is highly prevalent in FD and positively associated with its severity.All patients with FD who are followed in the Fabry cohort of the University Hospital Zurich (n = 62) were asked to participate in this prospective cohort study. Eligible patients were prospectively investigated by assessing their daytime sleepiness using the Epworth Sleepiness Scale (ESS), the severity of FD using the Mainz Severity Score Index (MSSI), and by an ambulatory overnight respiratory polygraphy between November 1, 2013, and January 31, 2015. SDB was defined as an apnea/hypopnea index (AHI) of > 5/h.Fifty-two patients (mean ± SD age 42.8 ± 14.7 years, 33% men, mean ± SD BMI 23.4 ± 3.6 kg/m2) with a median (IQR) MSSI of 12 (5–19) were included. Median (IQR) ESS was 6 (2–10) and 7 patients (14%) had an ESS > 10. Thirteen patients (25%) had SDB (78% obstructive sleep apnea, 22% central sleep apnea). In the multivariable analysis, the age was the only statistically significant predictor of SDB (OR 1.11, 95% CI 1.04–1.18, P = 0.001). ESS was associated with depression (P < 0.001) but not AHI nor age.This study shows that SDB, especially obstructive sleep apnea is highly prevalent in patients with Fabry disease. However, EDS in FD seems to be related with depression rather than SDB.ClinicalTrials.gov (identifier: NCT01947634).

Long-term follow-up of pulmonary function in Fabry disease: A bi-center observational study

“…However, direct damage from deposits in other cell types may also contribute to organ dysfunction, such as e.g. airways and lung [ 2 , 3 ].…”

Molecular Pathways and Respiratory Involvement in Lysosomal Storage Diseases

“…Franzen et al performed a PSG and assessed daytime sleepiness and disease severity through the Epworth Sleepiness Scale and Mainz Severity Score Index, respectively, on 52 patients with Fabry disease. The authors found that 13 patients (25%) had SDB (78% OSA and 22% central sleep apneas) [84]. Talbot et al also observed SDB in 10 out of 20 patients with Fabry disease who underwent a PSG [85].…”

General Anesthesia and Fabry Disease

“…Her history was negative for the 4 pain phenotypes of Fabry disease (pain attacks, pain crises, evoked pain/hyperalgesia, and chronic pain) 1,11 and obstructive sleep apnea. 3 General anesthesia for both surgeries consisted of induction with fentanyl 3 μg/kg IV, propofol target-controlled infusion (TCI) 8 μg/mL IV, and rocuronium 0.6 mg/kg IV; maintenance with propofol and remifentanil TCI; and additional analgesia with paracetamol, metamizole, and fentanyl IV. A lidocaine infusion was added to the maintenance regiment for the longer second surgery.…”

“…The widely variable clinical picture includes acroparesthesia, cornea verticillata, and abdominal pain in childhood; angiokeratoma, renal insufficiency, and electrocardiographic abnormalities in adolescence; and excessive daytime sleepiness, obstructive sleep apnea, hypertension, cardiomyopathy, renal failure, and stroke in adults. [1][2][3] General anesthesia has been described in only 4 patients. [4][5][6] We present 2 female patients with Fabry disease who required general anesthesia twice for gynecological and trauma surgery, respectively, and discuss their perioperative management based on the explosion of new information in the medical literature.…”