Alstrom syndrome natural history, complications and prognosis: Difference between revisions
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* 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. | * 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. | * 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. | ||
* More than 60% of individuals with Alström syndrome develop [[congestive heart failure]] as a result of [[cardiomyopathy]] at some stage of their lives. Onset, progression, and clinical outcome of the cardiomyopathy vary, even within families. | * More than 60% of individuals with Alström syndrome develop [[congestive heart failure]] as a result of [[cardiomyopathy]] at some stage of their lives. Onset, progression, and clinical outcome of the cardiomyopathy vary, even within families. More than 40% of affected infants have a transient but severe dilated cardiomyopathy with onset between age three weeks and four months. Most of these children survive and make an apparently full recovery in infancy. At a later age about 10%-15% of this group have spontaneous recurrence of a progressive [[restrictive cardiomyopathy]]. The proportion of those with Alström syndrome who develop infantile-onset cardiomyopathy may be underestimated because some infants who succumb may have undiagnosed Alström syndrome. About 20% of individuals with Alström syndrome have later-onset progressive restrictive cardiomyopathy identified between the teens to late 30s. Cardiac magnetic resonance imaging suggests that myocardial fibrosis may be present in clinically affected and asymptomatic individuals. | ||
==Complications== | ==Complications== | ||
Revision as of 03:49, 26 February 2013
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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.
- More than 60% of individuals with Alström syndrome develop congestive heart failure as a result of cardiomyopathy at some stage of their lives. Onset, progression, and clinical outcome of the cardiomyopathy vary, even within families. More than 40% of affected infants have a transient but severe dilated cardiomyopathy with onset between age three weeks and four months. Most of these children survive and make an apparently full recovery in infancy. At a later age about 10%-15% of this group have spontaneous recurrence of a progressive restrictive cardiomyopathy. The proportion of those with Alström syndrome who develop infantile-onset cardiomyopathy may be underestimated because some infants who succumb may have undiagnosed Alström syndrome. About 20% of individuals with Alström syndrome have later-onset progressive restrictive cardiomyopathy identified between the teens to late 30s. Cardiac magnetic resonance imaging suggests that myocardial fibrosis may be present in clinically affected and asymptomatic individuals.
Complications
- Blindness
- Hearing loss
- Congestive heart failure
- Cirrhosis
- Pancreatitis
- ESRD
- Hypothyroidism
- Pulmonary fibrosis
- Portal hypertension
- Type 2 diabetes mellitus
- Stunted growth