Professional Reference articles are designed for health professionals to use. They are written by UK doctors and based on research evidence, UK and European Guidelines. You may find one of our health articles more useful.
Treatment of almost all medical conditions has been affected by the COVID-19 pandemic. NICE has issued rapid update guidelines in relation to many of these. This guidance is changing frequently. Please visit https://www.nice.org.uk/covid-19 to see if there is temporary guidance issued by NICE in relation to the management of this condition, which may vary from the information given below.
Alström's syndrome is a very rare autosomal recessive disorder characterised by progressive cone-rod dystrophy leading to blindness, sensorineural hearing loss, childhood obesity associated with hyperinsulinaemia, and type 2 diabetes mellitus.[1] The diagnosis should be considered in all patients with infantile cone and rod retinal dystrophy, especially if the weight is above the 90th centile or if there is infantile cardiomyopathy.
- Dilated cardiomyopathy occurs in approximately 70% of patients during infancy or adolescence.[2]
- Renal failure, pulmonary, hepatic, and urological dysfunction are often observed, and systemic fibrosis develops with age.[2]
- The gene map locus for the affected mutated gene (ALMS1) is 2p12-13.[3]
Epidemiology
- Alström's syndrome is rare; only about 425 people worldwide are known to be affected.[4]
Presentation
Alström's syndrome in childhood is difficult to recognise without the development of infantile cardiomyopathy and may not be identified until diabetes mellitus develops in the second or third decade.
- Severe progressive infantile retinal dystrophy (visual acuity of 6/60 or less by 10 years of age and no light perception by age 20), with or without nystagmus.
- Deafness.
- Obesity.
- Acanthosis nigricans.
- Cardiomyopathy.
- Nephropathy.
- Alström's syndrome may also be associated with:[5]
- Hypothyroidism.
- Liver dysfunction.
- Metabolic abnormalities, including hyperuricaemia and elevated serum triglyceride and pre-beta-lipoprotein.[2]
- Small penis.
- Gastrointestinal reflux.
Differential diagnosis[2]
- Bardet-Biedl syndrome is similar (with retinitis pigmentosa, deafness, obesity and diabetes mellitus) but also includes mental defect, polydactyly or hypogonadism.
- The retinal lesion of Alström's syndrome causes nystagmus and early loss of central vision in contrast to the initial loss of peripheral vision found in other pigmentary retinopathies.
Investigations
- Blood tests for fasting blood glucose, liver function tests, renal function tests, thyroid function tests and triglyceride levels.
- A thorough assessment of vision and ophthalmoscopy by an ophthalmologist.
- Hearing assessment by an ear, nose and throat specialist.
- Assessment of heart function, including echocardiogram.
Management
There is no specific treatment but management will be required for:
- Diabetes.
- Renal impairment.
- Liver dysfunction.
- Visual impairment.
- Deafness.
- Heart failure and other features of cardiomyopathy, eg cardiac arrhythmias.
- Hypothyroidism.
Prognosis
- The prognosis will depend on the progression of glucose intolerance, cardiomyopathy, renal dysfunction and liver impairment.
- Total blindness and deafness are likely to develop.
Further reading and references
Alstrom CH, Hallgren B, Nilsson LB Asander H; Retinal degeneration combined with obesity, diabetes mellitus and neurogenous deafness: a specific syndrome (not hitherto described) distinct from the Laurence-Moon-Biedl syndrome. A clinical endocrinological and genetic examination based on a large pedigree. Acta Psychiat. Neurol. Scand. 1959, 34 (suppl. 129):1-35.
Alström Syndrome; Alström Syndrome, Online Mendelian Inheritance in Man (OMIM)
Zumsteg U, Muller PY, Miserez AR; Alstrom syndrome: confirmation of linkage to chromosome 2p12-13 and phenotypic heterogeneity in three affected sibs. J Med Genet. 2000 Jul37(7):E8.
Alström syndrome; Alström syndrome, U.S. National Library of Medicine
Alström syndrome; Alström syndrome, Medline Plus Medical Encyclopedia