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Alstrome Syndrome (AS)

Name of disease:

Alstrome Syndrome (AS)

ICD-10 diagnosis code:

Q87.8

Causes:

It is caused by the disruptions or mutations of ALMS1 gene in chromosome 2

Mode of inheritance:

Alströme Syndrome is inherited from parents in family in autosomal recessive pattern.

Prevalence

1/1,000,000

Diagnosis:

The diagnosis of Alströme Syndrome is based on clinical findings. However, it can sometimes be difficult because of the delayed onset of symptoms such as heart failure, diabetes and kidney disease. Specialized vision and hearing test can be conducted to determine visual abnormalities (cone-rod dystrophy) and hearing loss. Molecular genetic testing can confirm the diagnosis of Alström Syndrome with the detection of ALMS1 gene mutation.

Age of onset:

Infancy or early childhood

Common signs and symptoms:

Visual abnormalities Hearing loss. Developmental delay but usually unaffected intelligence. Heart failure. Learning disability. Obesity Nystagmus Type 2 diabetes. Hypertriglyceridemia Endocrine dysfunction Liver enlargement or fatty liver diseas. Slowly progressive kidney failure. Delayed puberty in males due to decreased hormone production by testes.

Available treatments (medicinal and non-medicinal):

There is specific treatment for individuals with Alströme Syndrome. Instead, treatment is directed towards specific symptoms. For example, vision and hearing aids are available to utilize the remaining vision and hearing.

Disease management tips:

The management of patients with Alströme Syndrome requires an experienced, multidisciplinary approach to tackle the signs and symptoms of Alström Syndrome. Patients’ hearing and vision may be impaired, and therefore caregivers should pay extra attention to the daily activities of the patients. Patients may develop type 2 diabetes. Therefore, a daily routine of insulin injection, controlled diet and regular exercise are necessary for blood glucose level control. Regular monitoring of blood glucose level is also recommended. Patients may develop hyperlipidemia, so low-fat diet should be adopted. For children with Alströme Syndrome, hormonal therapy shall be considered based on the condition due to decreased hormone production. For example, testosterone should be used for male patients to preserve sexuality

References:

https://rarediseases.org/rare-diseases/alstrom-syndrome/ https://rarediseases.info.nih.gov/diseases/5787/alstrom-syndrome

Other useful websites:

More about the disease:https://medlineplus.gov/genetics/condition/alstrom-syndrome/ Patient groups: Alströme Syndrome Internationalwww.alstrom.org