A mild form of Alstrom disease associated with metabolic syndrome and very high fasting serum free fatty acids: two cases diagnosed in adult age
- PMID: 15166753
- DOI: 10.1097/00000441-200405000-00031
A mild form of Alstrom disease associated with metabolic syndrome and very high fasting serum free fatty acids: two cases diagnosed in adult age
Abstract
Alstrom syndrome (ALMS) is a very rare genetic autosomal recessive disease, characterized by early-onset severe abdominal obesity, impaired glucose tolerance or type 2 diabetes with insulin resistance, acanthosis nigricans, hyperlipidemia, childhood progressive retinal degeneration or retinitis pigmentosa and neurosensory hearing loss or deafness, cardiomyopathy, and other endocrine disorders. Genetic studies locate the ALMS gene on chromosome 2p12-13. The aim of this paper is to describe and discuss two unrelated cases of a mild ALMS form diagnosed after the age of 40 and 60, respectively, in adult fertile female patients. These cases showed several features of the disease plus other alterations characteristic of the classic "metabolic syndrome," including hypertension, hyperfibrinogenemia, and thrombotic states. Moreover, the patients had very high fasting serum free fatty acid (FFA) levels (2150 and 1919 micromol/L, respectively), which proved to be sensitive to inhibition by oral glucose tolerance test (OGTT)-induced hyperinsulinemia as well as to caloric restriction. ALMS may have an adverse prognosis and is often underdiagnosed. Its mild form, which allows a long survival, may also be associated with the late complications of the metabolic syndrome, leading to increased vascular risk.
Similar articles
-
The progression from obesity to type 2 diabetes in Alström syndrome.Pediatr Diabetes. 2012 Feb;13(1):59-67. doi: 10.1111/j.1399-5448.2011.00789.x. Epub 2011 Jul 3. Pediatr Diabetes. 2012. PMID: 21722283 Free PMC article.
-
Refinement of genetic localization of the Alström syndrome on chromosome 2p12-13 by linkage analysis in a North African family.Hum Genet. 1998 Dec;103(6):658-61. doi: 10.1007/s004390050887. Hum Genet. 1998. PMID: 9921899
-
The Alström syndrome: is it a rare or unknown disease?Ann Ital Med Int. 2002 Oct-Dec;17(4):221-8. Ann Ital Med Int. 2002. PMID: 12532560 Review.
-
Alström syndrome.Eur J Hum Genet. 2007 Dec;15(12):1193-202. doi: 10.1038/sj.ejhg.5201933. Epub 2007 Oct 17. Eur J Hum Genet. 2007. PMID: 17940554
-
Genealogy, natural history, and phenotype of Alström syndrome in a large Acadian kindred and three additional families.Am J Med Genet. 1997 Dec 12;73(2):150-61. doi: 10.1002/(sici)1096-8628(19971212)73:2<150::aid-ajmg9>3.0.co;2-y. Am J Med Genet. 1997. PMID: 9409865 Review.
Cited by
-
A review of Alström syndrome: a rare monogenic ciliopathy.Intractable Rare Dis Res. 2021 Nov;10(4):257-262. doi: 10.5582/irdr.2021.01113. Intractable Rare Dis Res. 2021. PMID: 34877237 Free PMC article. Review.
-
Genotype-phenotype associations in Alström syndrome: a systematic review and meta-analysis.J Med Genet. 2023 Dec 21;61(1):18-26. doi: 10.1136/jmg-2023-109175. J Med Genet. 2023. PMID: 37321834 Free PMC article.
-
Cryptogenic cirrhosis: what are we missing?Curr Gastroenterol Rep. 2010 Feb;12(1):40-8. doi: 10.1007/s11894-009-0082-7. Curr Gastroenterol Rep. 2010. PMID: 20425483 Review.
-
Endoplasmic reticulum (ER) stress in cumulus-oocyte complexes impairs pentraxin-3 secretion, mitochondrial membrane potential (DeltaPsi m), and embryo development.Mol Endocrinol. 2012 Apr;26(4):562-73. doi: 10.1210/me.2011-1362. Epub 2012 Mar 1. Mol Endocrinol. 2012. PMID: 22383462 Free PMC article.
-
Insulin receptor substrate 2 is essential for maturation and survival of photoreceptor cells.J Neurosci. 2005 Feb 2;25(5):1240-8. doi: 10.1523/JNEUROSCI.3664-04.2005. J Neurosci. 2005. PMID: 15689562 Free PMC article.
Publication types
MeSH terms
Substances
LinkOut - more resources
Full Text Sources
Medical
