Tests and Examinations Recommended for Patients with Alström Syndrome

  1. 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.
  2. Hearing – Audiometry, otolaryngological evaluation yearly for all patients.  Myringotomy tubes have been helpful, with careful monitoring and precautions during and after surgery.
  3. 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.
  4. 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.
  5. Endocrine
    • 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.
  1. Digestive – Anamnesis of reflux-esophagitis. If there is suspicion, barium X-ray and esophagogastroduodenoscopy. If needed, Omeprazole and/or Metoclopramide.
  2. 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.
  3. Skin – Acanthosis nigricans, alopecia, body hair, hirsutism.
  4. Bone and muscles – Flat feet, scoliosis, kyphosis, barrel chest.
  5. Neurological – Routine examination – if indicated, EEG.
  6. 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.
  7. Other   Sleep apnea study, if needed.
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