Alström-Hallgren Syndrome: A Rare Autosomal Recessive Genetic Disorder
Abstract
Alström-Hallgren Syndrome is an autosomal recessive genetic disorder that is caused by mutations in the ALMS1 gene. It is characterized by obesity, insulin resistance, type 2 diabetes, hypertriglyceridemia, high cholesterol, and sensorineural hearing loss. This review provides an overview of the clinical features, diagnosis, and management of Alström-Hallgren Syndrome.
Introduction
Alström-Hallgren Syndrome (AHLS) is a rare autosomal recessive genetic disorder that is caused by mutations in the ALMS1 gene. It is characterized by obesity, insulin resistance, type 2 diabetes, hypertriglyceridemia, high cholesterol, and sensorineural hearing loss. This review provides an overview of the clinical features, diagnosis, and management of Alström-Hallgren Syndrome.
Clinical Features
AHLS is characterized by obesity, insulin resistance, type 2 diabetes, hypertriglyceridemia, high cholesterol, and sensorineural hearing loss. The obesity is typically severe, and it often begins in infancy. Patients may also have intellectual disability, cardiac abnormalities, and vision problems.
Diagnosis
AHLS is diagnosed based on clinical features and genetic testing. Genetic testing is the most reliable method of diagnosis, and it can be done through a blood test.
Management
The management of AHLS is focused on controlling the symptoms and preventing complications. Treatment usually includes lifestyle changes such as dietary modifications and increased physical activity, as well as medications to control diabetes, cholesterol, and triglycerides. Hearing aids may be used to treat sensorineural hearing loss, and vision problems should be managed as needed.
Conclusion
Alström-Hallgren Syndrome is a rare autosomal recessive genetic disorder that is caused by mutations in the ALMS1 gene. It is characterized by obesity, insulin resistance, type 2 diabetes, hypertriglyceridemia, high cholesterol, and sensorineural hearing loss. Diagnosis is based on clinical features and genetic testing, and management is focused on controlling the symptoms and preventing complications.
References
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