Gilbert's syndrome history and symptoms
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]
History and Symptoms
Jaundice:
- Gilbert's syndrome produces an elevated level of unconjugated bilirubin in the bloodstream but normally this has no serious consequence. Mild jaundice may appear under conditions of exertion, stress, fasting, and infections, but the condition is otherwise usually asymptomatic.[1][2]
- It has been reported that GS may contribute to an accelerated onset of neonatal jaundice[3].
- Some patients report experiencing unpleasant physical symptoms during episodes of high bilirubin levels. They may report meal-related fatigue, tremors, nausea, and abdominal pain, with jaundice.[4] Because patients may be unaware of their condition but conscious of apparent jaundice, they may present these symptoms at urgent-care facilities needlessly.
Detoxification of certain drugs:
- The enzymes that are defective in GS (UGT1A1) are also responsible for some of the liver's ability to detoxify certain drugs. For example, Gilbert's syndrome is associated with severe diarrhea and neutropenia in patients who are treated with irinotecan, which is metabolized by UGT1A1.[5]
- While paracetamol (acetaminophen) is not metabolized by UGT1A1,[6] it is metabolized by one of the other enzymes also deficient in some people with GS.[7][8] A subset of people with GS may have an increased risk of paracetamol toxicity.[8][9]
Debated signs and symptoms:
- Reduced risk of ischemic heart disease: One research group in the Czech Republic has found a reduced incidence of atherosclerotic disease in subjects with GS[10]. This is supposed to be due to bilirubin IXα being recognised as a potent antioxidant [11].
- Diffuse symptoms: Many people report diffuse symptoms related to GS - feeling tired all the time (fatigue), difficulty maintaining concentration, loss of appetite, abdominal pain, loss of weight and others - [12], but no clear adverse symptoms related to elevated levels of unconjugated bilirubin have been found in adults during scientific studies.[13][14]. This has led some to dispute whether GS should classify as a disease.[14][15]
References
- ↑ Kasper et al, Harrison's Principles of Internal Medicine, 16th edition, McGraw-Hill 2005
- ↑ Boon et al, Davidson's Principles & Practice of Medicine, 20th edition, Churchill Livingstone 2006
- ↑ Bancroft JD, Kreamer B, Gourley GR (1998). "Gilbert syndrome accelerates development of neonatal jaundice". Journal of Pediatrics. 132 (4): 656–60. doi:10.1016/S0022-3476(98)70356-7. PMID 9580766.
- ↑ "What is Gilbert's Syndrome?". Action on Gilbert's Syndrome.
- ↑ Marcuello E, Altés A, Menoyo A, Del Rio E, Gómez-Pardo M, Baiget M (2004). "UGT1A1 gene variations and irinotecan treatment in patients with metastatic colorectal cancer". Br J Cancer. 91 (4): 678–82. doi:10.1038/sj.bjc.6602042. PMID 15280927.
- ↑ Rauchschwalbe S, Zuhlsdorf M, Wensing G, Kuhlmann J (2004). "Glucuronidation of acetaminophen is independent of UGT1A1 promotor genotype". Int J Clin Pharmacol Ther. 42 (2): 73–7. PMID 15180166.
- ↑ Kohle C, Mohrle B, Munzel PA, Schwab M, Wernet D, Badary OA, Bock KW (2003). "Frequent co-occurrence of the TATA box mutation associated with Gilbert's syndrome (UGT1A1*28) with other polymorphisms of the UDP-glucuronosyltransferase-1 locus (UGT1A6*2 and UGT1A7*3) in Caucasians and Egyptians". Biochem Pharmacol. 65 (9): 1521–7. doi:10.1016/S0006-2952(03)00074-1. PMID 12732365.
- ↑ 8.0 8.1 Esteban A, Pérez-Mateo M (1999). "Heterogeneity of paracetamol metabolism in Gilbert's syndrome". European journal of drug metabolism and pharmacokinetics. 24 (1): 9–13. PMID 10412886.
- ↑ Mukherjee S. Gilbert Syndrome. eMedicine.com. URL: http://www.emedicine.com/med/topic870.htm. Accessed: October 7, 2007.
- ↑ Ladislav Novotnýc and Libor Vítek (2003). "Inverse Relationship Between Serum Bilirubin and Atherosclerosis in Men: A Meta-Analysis of Published Studies". Experimental Biology and Medicine (228): 568–571. PMID 12709588.
- ↑ Vítek L, Jirsa M, Brodanová M; et al. (2002). "Gilbert syndrome and ischemic heart disease: a protective effect of elevated bilirubin levels". Atherosclerosis. 160 (2): 449–56. doi:10.1016/S0021-9150(01)00601-3. PMID 11849670.
- ↑ GilbertsSyndrome.com
- ↑ Gitlin N. (1977). "The clinical presentation of Gilbert's disease in 26 patients". South Africa Medical Journal. 52 (1): 19–20. PMID 888039.
- ↑ 14.0 14.1 Olsson R, Bliding A, Jagenburg R, Lapidus L, Larsson B, Svärdsudd K, Wittboldt S. (1988). "Gilbert's syndrome--does it exist? A study of the prevalence of symptoms in Gilbert's syndrome". Acta Med Scandinavia. 224 (5): 485–490. PMID 3264448.
- ↑ Larissa K. F. Temple, Robin S. McLeod, Steven Gallinger, James G. Wright (2001). "Defining Disease in the Genomics Era". Science Magazine. 293 (5531): 807–808. doi:10.1126/science.1062938. PMID 11486074.