Alström Syndrome

Suhaib Radi, Saleh Binmahfooz, Samah Nawar, Hebah Malaikah
JCEM Case Reports, Volume 1, Issue 1, January 2023, luac012
https://doi.org/10.1210/jcemcr/luac012

Abstract

Diabetes mellitus is one of the most common diseases worldwide and is a major cause of morbidity and mortality. Type 2 diabetes, with its hallmark being insulin resistance, constitutes the majority of cases. Although usually related to modifiable risk factors, insulin resistance can have genetic causes. Here, we present one of the rare causes of insulin resistance. A 21-year-old man, who was deaf and blind, presented with a 3-week history of polyuria and polydipsia. He was found to have significant hyperglycemia, managed initially with insulin infusion, then he was transitioned to subcutaneous injections. Because he required high doses of insulin and had acanthosis nigricans, insulin resistance was suspected. Putting together his insulin resistance and chronic history of syndromic features, Alström syndrome was considered. Genetic testing revealed a mutation in the ALMS1 gene. The patient was then started on insulin sensitizers with a tapering of insulin with good response. Insulin resistance should be suspected if the insulin requirement is high and if acanthosis nigricans is present. Alström syndrome is a rare causes of insulin resistance. Affected individuals will usually have insulin-resistant diabetes by a young age and associated blindness and deafness. Insulin sensitizers are an important part of the treatment.

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