Non tumoral hyperserotoninaemia responsive to octreotide due to dual polymorphism in UGT1A1 and UGT1A6.
Title | Non tumoral hyperserotoninaemia responsive to octreotide due to dual polymorphism in UGT1A1 and UGT1A6. |
Publication Type | Journal Article |
Year of Publication | 2012 |
Authors | Maladaki, A., Yavropoulou M. P., Kotsa K., Tranga T., Ventis S., & Yovos J. G. |
Journal | Hormones (Athens) |
Volume | 11 |
Issue | 1 |
Pagination | 104-8 |
Date Published | 2012 Jan-Mar |
ISSN | 1109-3099 |
Keywords | Adult, Antineoplastic Agents, Hormonal, Drug Administration Schedule, Female, Genetic Predisposition to Disease, Gilbert Disease, Glucuronosyltransferase, Humans, Octreotide, Polymorphism, Genetic, Serotonin |
Abstract | Gilbert's syndrome is a common inherited metabolic disorder, caused by genetic aberration in the enzyme UDP-glucuronosyl-transferase 1A1 that leads to reduced glucuronidation of bilirubin. Recent advances in molecular genetics have frequently reported the concurrence of dual genetic polymorphisms in UDP glucuronosyl-transferases 1A6 and 1A1 in patients with Gilbert's syndrome, leading to defective glucuronidation of bilirubin, as well as several other endogenous and exogenous substrates, such as serotonin. We present a case of Gilbert's syndrome with severe persistent hyperserotoninaemia, mimicking carcinoid syndrome, due to dual polymorphisms in UDP-glucuronosyl-transferases 1A1 and 1A6. The patient was treated with a long-acting somatostatin analogue (octreotide) for 8 months, resulting in a significant reduction in serum serotonin levels and immediate relief of the symptomatology, followed by a long-term remission. The frequent occurrence of hyperserotoninaemia in Gilbert's syndrome may contribute, at least partly, to the nonspecific symptomatology commonly seen in these patients and should be promptly evaluated. |
Alternate Journal | Hormones (Athens) |
PubMed ID | 22450351 |