The following clinical evaluations are important for patients with Alström Syndrome. 

 

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  Tests and Examinations Recommended for Alström Patients

  1. Vision- ERG in childhood, look for subcapsular cataract.
  2. Hearing- Audiometry, otolaringological evaluation-yearly for all patients.
  3. TSH, fT4, fT3 and Sonography of thyroid gland. Replacement with Levothyroxin if deficiency.
  4. Pulmonology-Anamnesis, Auscultation, X-Ray, Spirography -FVC , FEV1 and FEV25-75% for all patient, if they are obstructive, find out, if spastic component exist, active treatment of exacerbation of brochitis-amoxicillin/clavulanat.  If there is chronic bronchitis, yearly evaluation of lung function, yearly vaccination against influenza, und routinely against measles, rubella, chicken pox and pertussis.
  5. Heart - anamnesis, auscultation, ECG for all patients (exercise ECG). Echocardiography-for all patient every 6 month or yearly. T/A –24 hour measurment - yearly.  Holter monitoring every two or three years.
  6. Anamnesis of reflux-esophagitis, if there is suspicion, X-ray with barium and esophagogastroduodenoscopy. If needed, Omeorazol and Cysaprid (or Metoclopramide).
  7. Liver-for all patients liver sonography and Doppler once, ALT (AST too), GGT yearly for all patient. If there are high level of these enzymes -Doppler of liver early. If portal hypertension exists,  band ligation and beta-blocker-propranolol or nadolol and very close control.
  8. Vaccination against Hepatitis A, if there are no Anti HAV- IgG, and B.
  9. Pancreas-evaluation at least yearly.  If hyperinsulinemia, fasting blood glucose -every 2-3 months, and diet. Diabetes mellitus, Acarbose? Metformin.
  10. Obesity-Weight, height, BMI every 3 months. Diet. Exercise: walking, hiking, biking with parent in tandem, swimming.
  11. Kidney-every 6 months urine analysis and creatinin in blood. Every 1-2 years sonography of kidney.   If proteinuria exists, protein electrophoresis in urine, and ACE inhibitors, creatinine at least every year, uric acid in blood, creatinin clearance, electrolytes in blood.
  12. Sexual function-Anamnesis of erection, libido, menstruation, secondary sexual characteristics, measurement of genitalia, then sonography of penis and testicles, ovaries and uterus. If impotence, Doppler of penis vascular system, spermiogram for 16-17 years old and higher. Examine for Gynecomastia. In blood: Testosterone, FSH, and LH. Testosterone replacement if necessarytransdermal patch or injection.
  13. Skin-acanthosis nigricans, alopecia, body hair, hirsutism.
  14. Bone and muscles-flat feet, scoliosis, barrel chest.
  15. Neurological - routine examination - if indicated, EEG for seizures 
  16. Immunological status of patients

Guidelines and Rationale for Treatment of Endocrinological Disorders and Diabetes Occurring in Alström Syndrome