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 |
Complications
- Blindness
- Hearing loss
- Congestive heart failure
- Cirrhosis
- Pancreatitis
- ESRD
- Hypothyroidism
- Pulmonary fibrosis
- Portal hypertension
- Type 2 diabetes mellitus
- Stunted growth