Evaluation of Experienced Events in Pompe Disease Based on Real-Life Data

Fehime Erdem ¹ Havva Yazici ¹ Merve Yoldas Celik ¹ Ayse Yuksel Yanbolu ¹ Cenk Eraslan ² Asude Durmaz ³ Ayca Aykut ³ Ebru Canda ¹ Zuhal Ulger Tutar ⁴ Sema Kalkan Ucar ¹ Erturk Levent ⁴ Eser Sozmen Yildirim ⁵ Mahmut Coker ¹

¹Ege University Faculty of Medicine, Department of Pediatrics, Division of Metabolism and Nutrition, Turkiye
²Ege University Faculty of Medicine, Department of Radiology, Turkiye
³Ege University Faculty of Medicine, Department of Medical Genetics, Turkiye
⁴Ege University Faculty of Medicine, Department of Pediatric Cardiology, Turkiye
⁵ge University Faculty of Medicine, Department of Medical Biochemistry, Turkiye

Background: Lysosomal 1,4 - glycosidase enzyme deficiency causes Pompe disease, an autosomal recessive metabolic disorder. Depending on the subtypes (IOPD infantile-onset or LAOP late-onset), there are differences in the age of onset, clinical symptoms, organ involvement levels, and life expectancy. This study aims to present an event-by-event analysis of real-world data related to Pompe disease.

Methods: Demographic, clinical, biochemical, and genetic information from the medical files monitored for 18 years were retrospectively collected and evaluated.

Results: There were 20 cases diagnosed with Pompe disease, of which, 19 (95%) had enzymatic and genetic diagnoses. Three cases (15%) were diagnosed as LOPD while 17 (85%) had an IOPD. The mean age at diagnosis for IOPD was 4.3±2.3 mo. Initial symptoms were 12 (71%) visceral (11 hepatomegaly, 1 hepatosplenomegaly), 16 (94%) neuromuscular (14 severe hypotonia, 1 mild hypotonia, 1 late gain in motor abilities), and 16 (94%) cardiac (13 hypertrophic cardiomyopathy, 3 dilated cardiomyopathy) complaints. All IOPD cases had elevated CK, AST, ALT, and LDH at the time of diagnosis, with 14 (82%) experiencing severe hypotonia (bed-dependent), 2 (14%) loss of walking ability, 1(7%) dependence on a mechanical ventilator, 1(7%) unilateral diaphragmatic paralysis, 6(40%) white matter involvement, and 3 (20%) neurogenic bladder. Eleven IOPD(65%) died at the age of 13.3 ± 8.4 mo. Enzyme replacement therapy was administered for 14.5 months (0.5−142 mo).

Initial findings of the cases with LOPD included elevated AST, ALT, CK, and motor developmental stages. The median age at diagnosis of 18 (8–80 mo). At the time of diagnosis and throughout subsequent follow-ups, the cardiac assessments were normal. Two of them (66%) were on ERT.

Discussion/conclusion: The cardiac, neuromuscular, and visceral findings provide important clues at the diagnosis of IOPD. The cardiac findings regressed under ERT, however neuromuscular iNvolvement only stabilised.