Glycogen storage disease type I 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
Glycogen storage disease type 1 (GSD 1) presents first as an average age of 6 months (1 - 12 months). If left untreated, glycogen storage disease type 1 develop complications including protruding abdomen due to marked hepatomegaly (storage of glycogen and fat), short stature, truncal obesity, rounded doll-like face, and wasted muscles. Common complications of glycogen storage disease type I include bleeding diathesis, chronic renal failure, hepatic adenoma, anemia, and inflammatory bowel disease (specifically in GSD type 1b).
Natural History
- Glycogen storage disease type 1 (GSD 1) presents first as an average age of 6 months (1 - 12 months).[1]
- If left untreated, glycogen storage disease type 1 develop complications including protruding abdomen due to marked hepatomegaly (storage of glycogen and fat), short stature, truncal obesity, rounded doll-like face, and wasted muscles.
- Untreated patients usually have a cushingoid appearance due to short stature with a round face and full cheeks.[2]
- Hepatomegaly improves as the age progresses.
Complications
Common complications of glycogen storage disease type I include:[1][2][3][4][5][6][7][8][9][10][11][12][13][14][15][16][17][18][19][20][21]
- Bleeding diathesis
- Epistaxis
- Easy bruising
- Excessive bleeding during surgical procedures
- Menorrhagia
- Chronic renal failure requiring renal transplant
- Delayed puberty
- Gout arthritis due to hyperuricemia
- Hepatic adenoma with potential for malignant transformation into hepatocellular carcinoma
- Hypertriglyceridemia leading to
- Inflammatory bowel disease (particularly GSD type 1b)
- Nephrolithiasis and nephrocalcinosis due to hyperuricemia
- Nephromegaly
- Osteopenia leading to pathologic fractures
- Osteoporosis
- Polycystic ovaries
- Pulmonary hypertension
- Refractory anemia (especially in patients with hepatic adenoma)
- Rickets
- Splenomegaly (particularly in GSD type 1b)
- Systemic hypertension
- Thyroid autoimmunity and hypothyroidism (particularly in GSD type 1b)
Prognosis
- If left untreated, patients with GSD I develops complications and dies in infancy or childhood of overwhelming hypoglycemia and acidosis.[1][2]
- Surviving individuals have stunted physical growth and delayed puberty due to chronically low insulin levels.
- Mental retardation as a result of severe and recurrent hypoglycemia is considered preventable with appropriate treatment.
References
- ↑ 1.0 1.1 1.2 Rake JP, Visser G, Labrune P, Leonard JV, Ullrich K, Smit GP (2002). "Glycogen storage disease type I: diagnosis, management, clinical course and outcome. Results of the European Study on Glycogen Storage Disease Type I (ESGSD I)". Eur. J. Pediatr. 161 Suppl 1: S20–34. doi:10.1007/s00431-002-0999-4. PMID 12373567.
- ↑ 2.0 2.1 2.2 Kishnani, Priya S.; Austin, Stephanie L.; Abdenur, Jose E.; Arn, Pamela; Bali, Deeksha S.; Boney, Anne; Chung, Wendy K.; Dagli, Aditi I.; Dale, David; Koeberl, Dwight; Somers, Michael J.; Burns Wechsler, Stephanie; Weinstein, David A.; Wolfsdorf, Joseph I.; Watson, Michael S. (2014). "Diagnosis and management of glycogen storage disease type I: a practice guideline of the American College of Medical Genetics and Genomics". Genetics in Medicine. doi:10.1038/gim.2014.128. ISSN 1098-3600.
- ↑ Bali DS, Chen YT, Austin S, et al. Glycogen Storage Disease Type I. 2006 Apr 19 [Updated 2016 Aug 25]. In: Adam MP, Ardinger HH, Pagon RA, et al., editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2017. Available from: https://www.ncbi.nlm.nih.gov/books/NBK1312/
- ↑ Humbert M, Labrune P, Simonneau G (2002). "Severe pulmonary arterial hypertension in type 1 glycogen storage disease". Eur J Pediatr. 161 Suppl 1: S93–6. doi:10.1007/s00431-002-1012-y. PMID 12373580.
- ↑ Kishnani P, Bengur AR, Chen YT (1996). "Pulmonary hypertension in glycogen storage disease type I." J Inherit Metab Dis. 19 (2): 213–6. PMID 8739968.
- ↑ Reddy SK, Austin SL, Spencer-Manzon M, Koeberl DD, Clary BM, Desai DM; et al. (2009). "Liver transplantation for glycogen storage disease type Ia". J Hepatol. 51 (3): 483–90. doi:10.1016/j.jhep.2009.05.026. PMID 19596478.
- ↑ Reddy SK, Kishnani PS, Sullivan JA, Koeberl DD, Desai DM, Skinner MA; et al. (2007). "Resection of hepatocellular adenoma in patients with glycogen storage disease type Ia". J Hepatol. 47 (5): 658–63. doi:10.1016/j.jhep.2007.05.012. PMID 17637480.
- ↑ Kudo M (2001). "Hepatocellular adenoma in type Ia glycogen storage disease". J Gastroenterol. 36 (1): 65–6. PMID 11211215.
- ↑ Czapek EE, Deykin D, Salzman EW (1973). "Platelet dysfunction in glycogen storage disease type I." Blood. 41 (2): 235–47. PMID 4350560.
- ↑ Mühlhausen C, Schneppenheim R, Budde U, Merkel M, Muschol N, Ullrich K; et al. (2005). "Decreased plasma concentration of von Willebrand factor antigen (VWF:Ag) in patients with glycogen storage disease type Ia". J Inherit Metab Dis. 28 (6): 945–50. doi:10.1007/s10545-005-0184-9. PMID 16435187.
- ↑ Weinstein DA, Roy CN, Fleming MD, Loda MF, Wolfsdorf JI, Andrews NC (2002). "Inappropriate expression of hepcidin is associated with iron refractory anemia: implications for the anemia of chronic disease". Blood. 100 (10): 3776–81. doi:10.1182/blood-2002-04-1260. PMID 12393428.
- ↑ Minarich, Laurie A.; Kirpich, Alexander; Fiske, Laurie M.; Weinstein, David A. (2012). "Bone mineral density in glycogen storage disease type Ia and Ib". Genetics in Medicine. 14 (8): 737–741. doi:10.1038/gim.2012.36. ISSN 1098-3600.
- ↑ Reitsma-Bierens WC (1993). "Renal complications in glycogen storage disease type I." Eur J Pediatr. 152 Suppl 1: S60–2. PMID 8319728.
- ↑ Weinstein DA, Somers MJ, Wolfsdorf JI (2001). "Decreased urinary citrate excretion in type 1a glycogen storage disease". J Pediatr. 138 (3): 378–82. doi:10.1067/mpd.2001.111322. PMID 11241046.
- ↑ Labrune P (2002). "Glycogen storage disease type I: indications for liver and/or kidney transplantation". Eur J Pediatr. 161 Suppl 1: S53–5. doi:10.1007/s00431-002-1004-y. PMID 12373572.
- ↑ Sechi A, Deroma L, Lapolla A, Paci S, Melis D, Burlina A; et al. (2013). "Fertility and pregnancy in women affected by glycogen storage disease type I, results of a multicenter Italian study". J Inherit Metab Dis. 36 (1): 83–9. doi:10.1007/s10545-012-9490-1. PMID 22562700.
- ↑ Austin SL, El-Gharbawy AH, Kasturi VG, James A, Kishnani PS (2013). "Menorrhagia in patients with type I glycogen storage disease". Obstet Gynecol. 122 (6): 1246–54. doi:10.1097/01.AOG.0000435451.86108.82. PMID 24201678.
- ↑ Lee PJ, Patel A, Hindmarsh PC, Mowat AP, Leonard JV (1995). "The prevalence of polycystic ovaries in the hepatic glycogen storage diseases: its association with hyperinsulinism". Clin Endocrinol (Oxf). 42 (6): 601–6. PMID 7634500.
- ↑ Roe, Thomas F.; Thomas, Daniel W.; Gilsanz, Vicente; Isaacs, Hart; Atkinson, James B. (1986). "Inflammatory bowel disease in glycogen storage disease type Ib". The Journal of Pediatrics. 109 (1): 55–59. doi:10.1016/S0022-3476(86)80572-8. ISSN 0022-3476.
- ↑ Smit GP (1993). "The long-term outcome of patients with glycogen storage disease type Ia". Eur J Pediatr. 152 Suppl 1: S52–5. PMID 8319726.
- ↑ Melis D, Pivonello R, Parenti G, Della Casa R, Salerno M, Lombardi G; et al. (2007). "Increased prevalence of thyroid autoimmunity and hypothyroidism in patients with glycogen storage disease type I." J Pediatr. 150 (3): 300–5, 305.e1. doi:10.1016/j.jpeds.2006.11.056. PMID 17307551.