Glycogen storage disease type II natural history, complications and prognosis
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]; Associate Editor(s)-in-Chief: Anmol Pitliya, M.B.B.S. M.D.[2]
Overview
The symptoms of classic infantile glycogen storage disease type 2 (GSD type 2) usually develop in the first two months of life and start with symptoms of feeding difficulties and failure to thrive. If left untreated, patients with classic infantile GSD type 2 progress to cardiac failure resulting in death within first two years of life. Most common cause of mortality in late onset glycogen storage disease type 2 is respiratory failure followed by ruptured cerebral aneurysm. Common complications of glycogen storage disease type 2 include cardiomegaly, cardiomyopathy, respiratory failure, respiratory infections, and cerebral aneurysm. Depending on the age of onset of glycogen storage disease type 2, the prognosis may vary. The prognosis is comparatively better as age of onset increases. The presence of classic infantile GSD type 2 is associated with an extremely poor prognosis and the majority of the patients are on ventilator support by a median age of 5.9 months with a median age of death at 8.7 months. Childhood/juvenile GSD type 2 have a relatively good prognosis. Patients may survive up to the third decade of life.
Natural History, Complications, and Prognosis
Natural History
- The symptoms of classic infantile glycogen storage disease type 2 (GSD type 2) usually develop in the first two months of life and start with symptoms of feeding difficulties and failure to thrive.[1][2]
- Classic infantile GSD type 2 is usually diagnosed at a median age of 4.7 months.
- If left untreated, patients with classic infantile GSD type 2 progress to cardiac failure resulting in death within first two years of life.
- Non-classic infantile GSD type 2 is a less severe form and patients may survive beyond 2 years.[3]
- Most common cause of mortality in late onset glycogen storage disease type 2 is respiratory failure followed by ruptured cerebral aneurysm.[4]
Complications
Prognosis
- Depending on the age of onset of glycogen storage disease type 2, the prognosis may vary. The prognosis is comparatively better as age of onset increases.[4]
- The presence of classic infantile GSD type 2 is associated with an extremely poor prognosis and the majority of the patients are on ventilator support by a median age of 5.9 months.[1]
- The median age of death is 8.7 months.
- Classic infantile GSD type 2 patients with supportive and palliative treatment also have a very poor prognosis with mortality before 12 months of age.
- Prognosis of non-classic infantile GSD type 2 is also poor but some patients may survive beyond 2 years.[3]
- Childhood/juvenile GSD type 2 have a relatively good prognosis. Patients may survive up to the third decade of life.
References
- ↑ 1.0 1.1 Kishnani PS, Hwu WL, Mandel H, Nicolino M, Yong F, Corzo D; et al. (2006). "A retrospective, multinational, multicenter study on the natural history of infantile-onset Pompe disease". J Pediatr. 148 (5): 671–676. doi:10.1016/j.jpeds.2005.11.033. PMID 16737883.
- ↑ van den Hout HM, Hop W, van Diggelen OP, Smeitink JA, Smit GP, Poll-The BT; et al. (2003). "The natural course of infantile Pompe's disease: 20 original cases compared with 133 cases from the literature". Pediatrics. 112 (2): 332–40. PMID 12897283.
- ↑ 3.0 3.1 Di Rocco M, Buzzi D, Tarò M (2007). "Glycogen storage disease type II: clinical overview". Acta Myol. 26 (1): 42–4. PMC 2949314. PMID 17915568.
- ↑ 4.0 4.1 4.2 Winkel LP, Hagemans ML, van Doorn PA, Loonen MC, Hop WJ, Reuser AJ; et al. (2005). "The natural course of non-classic Pompe's disease; a review of 225 published cases". J Neurol. 252 (8): 875–84. doi:10.1007/s00415-005-0922-9. PMID 16133732.
- ↑ Slonim AE, Bulone L, Ritz S, Goldberg T, Chen A, Martiniuk F (2000). "Identification of two subtypes of infantile acid maltase deficiency". J Pediatr. 137 (2): 283–5. doi:10.1067/mpd.2000.107112. PMID 10931430.