Alstrom syndrome overview

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Alstrom syndrome Microchapters

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Overview

Historical Perspective

Pathophysiology

Differentiating Alstrom syndrome from other Diseases

Epidemiology and Demographics

Screening

Natural History, Complications and Prognosis

Diagnosis

Diagnostic Criteria

History and Symptoms

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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1], Associate Editor(s)-in-Chief: Aarti Narayan, M.B.B.S [2]; Raviteja Guddeti, M.B.B.S. [3]

Overview

Alström syndrome is a rare genetic disorder caused by mutations in the gene ALMS1 which is located on the chromosome 2. It is among the rarest genetic disorders.

Historical Perspective

Alström syndrome was first described by Carl-Henry Alström in Sweden in 1959.

Epidemiology and Demographics

It is among the rarest genetic disorders in the world, as currently it has only 266 reported cases in medical literature and only 800 known cases in 54 countries.

Diagnosis

Diagnostic Criteria

It is possible to clinically detect Alström syndrome in infancy, but more frequently, it is detected much later, as doctors tend to detect symptoms as separate problems. Currently, Alström syndrome is only diagnosed clinically, since genetic testing is still rare and only available on a limited basis.

Imaging

Other Imaging Findings

Electroretinogram is used for ophthalmologic evaluation. Screening esophagogastroduodenoscopy can be used to diagnose varices. Similarly upper GI endoscopy can aid in the diagnosis of gastroesophageal reflux.

Other Diagnostic Studies

The diagnosis of Alström syndrome relies primarily on clinical findings and/or family history. In some instances the diagnosis can be confirmed by molecular genetic testing. Sequence analysis of the coding region should be performed: tiered testing with sequencing of select exons first, followed by analysis of the entire gene. The frequency of deletions is unknown but deletion/duplication analysis may be clinically indicated in some instances[1].

References

  1. Minton JA, Owen KR, Ricketts CJ; et al. (2006). "Syndromic obesity and diabetes: changes in body composition with age and mutation analysis of ALMS1 in 12 United Kingdom kindreds with Alstrom syndrome". J. Clin. Endocrinol. Metab. 91 (8): 3110–6. doi:10.1210/jc.2005-2633. PMID 16720663. Unknown parameter |month= ignored (help)


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