Standard of Care

Disclaimer: READERS ARE CAUTIONED NOT TO TAKE ANY ACTION WITH REGARD TO THEIR MEDICAL TREATMENT OR OTHERWISE, BASED ON INFORMATION ON THIS WEBSITE, WITHOUT FIRST CONSULTING A PHYSICIAN.

standard-of-careFirst and foremost, individuals who do not know their genetically confirmed type of albinism should have an understanding of HPS and inform their physician of its possibility, especially before any surgical or dental procedures. A prompt diagnosis would be wise.

At the moment there is no one particular treatment for HPS though studies are in progress at the National Institutes of Health and other laboratories. Beyond that, your physician must help you handle the symptoms that may arise. A good understanding of the signs and symptoms of HPS will help you inform your doctor when you might need medical attention.

Please be aware that some medications/herbs/foods that affect platelet function may be contraindicated for those with HPS because they can further delay clotting.  Anticipated use of these products should first be brought to the attention of your healthcare provider.

For a more complete list, click here.

 

You should discuss the following with your physician:

Vision

  • See an Ophthalmologist
  • Wear eye protection-UV-protecting sunglasses

Skin

  • See a Dermatologist
  • Use sunscreen- minimum SPF 50
  • Wear protective clothing (e.g. hats)
  • Avoid direct sunlight during peak hours of day. (10AM-4PM)

Respiratory / Lungs – HPS 1, 2 and 4 develop pulmonary fibrosis

  • See a Pulmonologist and consider discussing with them:
    • Obtaining a baseline Pulmonary Function Test in adolescence and annual PFT’s thereafter
    • Obtaining a baseline CT scan with follow up as needed
  • Avoid toxic chemicals and fumes including cleaning solutions
  • Get an annual flu shot
  • For those with lung disease:
  1. Consider pulmonary rehab
  2. LUNG BIOPSIES are not recommended because of bleeding, you or your physician are welcome to contact the Network for more information regarding this

Gastrointestinal / Digestive Track

  • Monitor for abdominal pain, cramping frequency, urgency, loose stools and bloody stools
  • If symptoms develop, see a Gastroenterologist
  • If endoscopy or colonoscopy indicated- platelets should be on standby for HPS 1, 2 and 4 and HLA- matched platelets should be available
  • Seek advice about medications that can affect platelet function (e.g. Pepto-Bismol)

Renal / Kidneys

  • Monitor for blood in urine, kidney stones and BUN/Creatinine in blood work

Bleeding

  • See a Hematologist
  • IF BLEEDING CANNOT BE CONTROLLED CONTACT PHYSCIAN
  • GO TO EMERGENCY ROOM OR CALL 911
  • To stop bleeding: RICE

          Rest
          Ice
          Compression (may take 20 minutes of compression)
          Elevation

  • Vaseline gauze should be placed against wound and then a dry gauze followed by Coflex (a non-adhesive self-adhering bandaging wrap) or a similar medical bandage
  • Prescription medications are available to promote and support clotting; for more information call the Network – 1 (800) 789-9477
  • Platelets can be used to control severe bleeding (HPS 1, 2, & 4 are recommended to receive HLA- matched platelets to prevent antibody production)
  • Platelets should be used cautiously because they cause antibody production
  • Nose bleeds should be treated with firm pressure, sit upright- (DO NOT PACK NOSEBLEEDS UNLESS UNDER MEDICAL SUPERVISION)
  • Menstrual bleeding- pads should be counted to keep track of amount

For heavy menstrual bleeding   treatment options may include: Oral contraceptives IUD

  • Pregnancy should be carefully monitored by a “High Risk” OB/GYN

DENTAL

  • Oral hygiene should be maintained
  • Water piking has been used successfully
  • See the Dentist as directed

For tooth extractions a hematology consult might be necessary and platelets on standby might be recommended