HUTCHINSON-GILFORD PROGERIA SYNDROME

HGPS; Hutchinson-Gilford Syndrome; Progeria Syndrome; Progeria of Childhood

Hutchinson-Gilford Progeria Syndrome (HGPS) is a rare genetic condition that produces rapid aging in children. Affected children typically look normal at birth and in early infancy, but then grow more slowly than other children grow and do not gain weight at the expected rate (failure to thrive). Over time, they develop a characteristic facial appearance, hair loss, aged-looking skin, joint abnormalities, and a loss of fat under the skin. Severe hardening of the arteries (arteriosclerosis) occurs at a young age. This condition does not disrupt intellectual development or the development of motor skills such as sitting, standing, and walking. People with HGPS do not develop other disease processes associated with aging such as increased tumor formation, cataract development, or dementia.

Diagnostic testing: Genetic testing is for the LMNA gene mutation responsible for HGPS. Cardiac stress testing may show premature atherosclerosis of the coronary and other arteries.

Physical findings:

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  Characteristic facial features (prominent eyes, a thin nose with a beaked tip, thin lips, a small chin, protruding ears, delayed or abnormal formation of teeth);

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  Skin hardening and toughening;

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  Decreased subcutaneous fat;

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  Alopecia; and

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  Skeletal dysplasia with abnormalities in bone structure, skeletal strength, and decreased range of joint mobility.

ICD-9: 259.8

Children with HGPS usually appear normal at birth with signs of the disease occurring at age 6 – 12 months, with skin changes, alopecia, and failure to thrive. Children usually live to their teenage years with some individuals surviving into their early 20s. Premature atherosclerosis greatly increases the chance of heart attack or stroke at a young age, which is the usual cause of death.

There currently is no cure for HGPS. Treatment is directed towards the monitoring and management of the manifestations of the disorder.

SUGGESTED PROGRAMMATIC ASSESSMENT*

Suggested MER for Evaluation:

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  Clinical history and examination documenting characteristic physical findings;

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  Genetic testing reports for LMNA mutation;

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  Imaging of the skeleton showing diffuse osteopenia/osteoporosis; and

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  MRI of the brain with evidence of cerebrovascular occlusive disease.

Suggested Listings for Evaluation:

REMARKS

These cases may meet the criteria in listing 104.02 but probably not until the child is are more than 5 years old. Listing level severity must be documented.

These cases may meet the criteria in listing 105.08 but probably not until the child is more than 5 years old. Listing level severity must be documented.