Alstrom syndrome natural history, complications and prognosis
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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]
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Natural History
A wide range of clinical variability is observed among individuals with Alström syndrome, including among siblings. The first clinical presentation of Alström syndrome is usually nystagmus caused by cone-rod dystrophy and resulting in childhood blindness. Disease characteristics that are later in onset include truncal obesity that manifests during the first year of life, progressive sensorineural hearing loss, infantile-onset dilated cardiomyopathy or later-onset restrictive cardiomyopathy, insulin-resistant type 2 diabetes mellitus, and hepatic, pulmonary, and renal dysfunction.
| Manifestation | Range of Age Onset | Incidence |
| Cone-rod dystrophy | Birth - 15 mos | 100% |
| Obesity | Birth - 5 years | 98% |
| Developmental delay | Birth-adolescence | 25%-30% |
| Dilated cardiomyopathy | 2 wks - 4 mos | 42% |
| Progressive sensorineural hearing loss | 2-25 yrs | 88% |
| Restrictive cardiomyopathy | Juvenile - late 30s | 18% |
| Insulin resistance / type 2 diabetes mellitus | 4-30 yrs / 8-40 yrs | 92% / 68% |
| Short stature | Puberty - adult | 98% |
| Hepatic disease | 8-30 yrs | 23%-92% |
| Hypogonadotropic hypogonadism | 10+ yrs | 78% of males |
| Urologic disease | Adolescence - adult | 48% |
| Renal disease | Adolescence - adult | Variably progressive with age |
- Vision problems are progressive and ultimately result in blindness. Rod function is preserved initially but deteriorates as the individual ages, with visual acuity of 6/60 or less by age ten years, increasing constriction of visual fields, and no light perception by age 20 years. In some rare cases, some vision (e.g., the ability to read large print) is retained into the third decade.
- Hyperphagia and excessive weight gain (some studies show weight gain greater than expected for intake) begin during their first year, resulting in childhood truncal obesity. In some individuals body weight tends to normalize, decreasing into the high-normal to normal range after adolescence.
- Hearing loss may progress to the severe or moderately severe range (40-70 db) by the end of the first to second decade. A high incidence of glue ear (long-standing sticky fluid in the middle ear) can lead to an additional conductive hearing loss
Complications
- Blindness
- Hearing loss
- Congestive heart failure
- Cirrhosis
- Pancreatitis
- ESRD
- Hypothyroidism
- Pulmonary fibrosis
- Portal hypertension
- Type 2 diabetes mellitus
- Stunted growth