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• W2039984254 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 μmol/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." @default.
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• W2039984254 date "2004-05-01" @default.
• W2039984254 modified "2023-09-23" @default.
• W2039984254 title "A Mild Form of Alstrom Disease Associated with Metabolic Syndrome and Very High Fasting Serum Free Fatty Acids: Two Cases Diagnosed in Adult Age" @default.
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• W2039984254 doi "https://doi.org/10.1097/00000441-200405000-00031" @default.
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