Alstrom syndrome diagnostic criteria
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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]
Overview
It is possible to clinically detect Alström syndrome in infancy, but more frequently, it is detected much later, as doctors tend to detect symptoms as separate problems. Currently, Alström syndrome is only diagnosed clinically, since genetic testing is still rare and only available on a limited basis.
Diagnostic Criteria
Marshall JD et al. provided a comprehensive guidance for diagnostic criteria in their 2007 publication.
Birth - 2 years:
Minimum diagnosis requires 2 major criteria or 1 major and 2 minor criteria.
Major criteria are: 1) ALMS1 mutation in 1 allele and/or family history of Alström Syndrome 2) Vision pathology (nystagmus, photophobia)
Minor criteria are: 1) Obesity 2) Dilated cardiomyopathy with congestive heart failure
Other variable supportive evidence: Recurrent pulmonary infections, normal digits, delayed developmental milestones.
At 3-14 years of age:
2 major criteria or 1 major and 3 minor criteria.
Major criteria are: 1) ALMS1 mutation in 1 allele and/or family history of Alström Syndrome, 2) Vision pathology (nystagmus, photophobia, diminished acuity). If old enough for testing: cone dystrophy by electroretinography (ERG).
Minor Criteria: 1) Obesity and/or insulin resistance and/or Type 2 Diabetes 2) History of dilated cardiomyopathy with congestive heart failure 3) Hearing loss 4) Hepatic dysfunction 5) Renal failure 6) Advanced bone age
Variable supportive evidence: Recurrent pulmonary infections, normal digits, delayed developmental milestones, hyperlipidemia, scoliosis, flat wide feet,hypothyroidism, hypertension, recurrent urinary tract infection, growth hormone deficiency.
Presentation 15 years - adulthood:
2 major and 2 minor criteria or 1 major and 4 minor criteria.
Major criteria are: 1) ALMS1 mutation in 1 allele and/or family history of Alström Syndrome. 2) Vision pathology (history of nystagmus in infancy/childhood, legal blindness, cone and rod dystrophy by ERG).
Minor criteria: 1) Obesity and/or insulin resistance and/or Type 2 Diabetes 2) History of dilated cardiomyopathy with congestive heart failure. 3) Hearing loss 4) Hepatic dysfunction 5) Renal failure 6) Short stature 7) Males: hypogonadism, Females: irregular menses and/or hyperandrogenism
Other supportive features: Recurrent pulmonary infections, normal digits, history of developmental delay, hyperlipidemia, scoliosis, flat wide feet, hypothyroidism, hypertension, recurrent urinary tract infections/urinary dysfunction, growth hormone deficiency, alopecia.
| Age Range | Major Criteria | Minor Criteria | Criteria Required | Other Supportive Features |
| Birth - 2 years | • ALMS1 mutation in 1 allele and/or family history of Alström Syndrome, • Vision pathology (nystagmus, photophobia) | •Obesity, • Dilated cardiomyopathy with congestive heart failure | Minimum diagnosis requires 2 major criteria or 1 major and 2 minor criteria | Recurrent pulmonary infections, normal digits, delayed developmental milestones |
| 3-14 years | • ALMS1 mutation in 1 allele and/or family history of Alström Syndrome, • Vision pathology (nystagmus, photophobia, diminished acuity). If old enough for testing: cone dystrophy by electroretinography (ERG) | Obesity and/or insulin resistance and/or Type 2 Diabetes, History of dilated cardiomyopathy with congestive heart failure, Hearing loss, Hepatic dysfunction, Renal failure, Advanced bone age | Minimum diagnosis requires 2 major criteria or 1 major and 3 minor criteria | Recurrent pulmonary infections, normal digits, delayed developmental milestones, hyperlipidemia, scoliosis, flat wide feet,hypothyroidism, hypertension, recurrent urinary tract infection, growth hormone deficiency |