Tests and Examinations Recommended for Patients with Alström Syndrome
- Vision- ERG yearly in childhood, look for subcapsular cataracts. Red-orange tinted lenses helpful for photodysphoria. Anticipate total blindness, so early Braille and mobility training is important.
- Hearing- Audiometry, otolaryngological evaluation yearly for all patients. Myringotomy tubes have been helpful, with careful monitoring and precautions during and after surgery.
- Cardiac – ECG for all patients (exercise ECG). Echocardiography for all patients every 6 month or yearly, even if asymptomatic. T/A –24 hour measurement yearly. Holter monitoring every two or three years. Successful heart transplantation has been reported in some patients with Alstrom Syndrome.
- Hepatic – ALT / AST, GGT yearly for all patients. Evaluate for steatosis/steatohepatitis. For all patients liver sonography and Doppler once. If there are high transaminases, Doppler of liver yearly. If portal hypertension exists, band ligation and beta-blocker-propranolol or nadolol and very close control.
Detailed endocrine guidelines
- Hyperlipidemia – Evaluation at least yearly.
- Diabetes – Evaluation at least yearly. If hyperinsulinemia, fasting blood glucose – every 2-3 months, and diet adjustments. For diabetes mellitus, Acarbose, Metformin. Insulin is sometimes necessary.
- Obesity – Weight, height, BMI every 3 months. Diet adjustments. Exercise: walking, hiking, biking in tandem, swimming.
- Thyroid –TSH, fT4, fT3 and sonography of thyroid gland. Replacement with Levothyroxin, if deficiency.
- Sexual function – Males: anamnesis of erection, libido, secondary sexual characteristics, measurement of genitalia. Sonography of penis and testicles. Examine for gynecomastia.Testosterone replacement for males, if necessary transdermal patch or injection. In females: anamnesis of hyperandrogenism, menstruation, secondary sexual characteristics. Sonography of ovaries and uterus. In blood: Testosterone, FSH, and LH.
- Pulmonology– X-Ray, Spirography -FVC , FEV1 and FEV25-75% for all patients. If obstructive, determine if spastic components exist and treat accordingly. If there is chronic bronchitis, yearly evaluation of lung function. Assess pulmonary hypertension. Note: patients often have difficulty in completing PFTs, so assessment can be difficult.
- Digestive – Anamnesis of reflux-esophagitis. If there is suspicion, barium X-ray and esophagogastroduodenoscopy. If needed, Omeprazole and/or Metoclopramide.
- Renal – Urinalysis and serum creatinine, BUN, uric acid, creatinine clearance, electrolytes every 6 months. Every 1-2 years, renal sonography. If proteinuria exists, urine protein electrophoresis, and ACE inhibitors.
- Skin – Acanthosis nigricans, alopecia, body hair, hirsutism.
- Bone and muscles – Flat feet, scoliosis, kyphosis, barrel chest.
- Neurological – Routine examination – if indicated, EEG.
- Immunological – Yearly vaccination against influenza, and routinely against measles, rubella, chicken pox and pertussis. Hepatitis A, if there are no Anti HAV- IgG, and B.
- Other – Sleep apnea study, if needed.
1. Marshall JD, Maffei P, Beck S, Barrett TG, Paisey R, Naggert JK. Clinical utility gene card for: Alström syndrome – update 2013. Eur J Hum Genet. 2013 Apr 24. doi: 10.1038/ejhg.2013.61. [Epub ahead of print]
2. Marshall JD, Paisey RB, Carey CM, McDermott S. (2010) in: Pagon RA, Bird TC, Dolan CR, Stephens K, editors. GeneReviews [Internet]. Seattle (WA): University of Washington, Seattle; 1993-2003 [updated 2010 Jun 8].