Management and surveillance are the same as for the other forms of Hermansky-Pudlak Syndrome.
Photoprotection:
- reduce outdoor activities during maximal UV radiation period
- sunscreens (>50) and UV blockers should be used on exposed skin areas including ears, lips, eyelids and neck.
- wear protective clothing (long-sleeved shirts, long trousers and wide-brimmed hats in order to protect the ears, nose and neck), made if available of UV-protective textiles
- wear sunglasses
Dermatological surveillance:
Regular surveillance, every 6-12 months, by a dermatologist is necessary, searching for lesions including actinic keratosis, basal cell carcinoma, squamous cell carcinoma, and melanoma (rare in albinism).
Vitamin D is a lipid-soluble micronutrient produced in the skin when provitamin D (7-dehydrocholesterol) in cell membranes is exposed to UVB rays and converted to cholecalciferol
(D3). Photoprotection and sun avoidance may limit the conversion of provitamin D to cholecalciferol. It is therefore important to detect, prevent and treat vitamin D deficiency in patients with albinism.
Ophthalmological surveillance:
Regular surveillance by an ophthalmologist is necessary to achieve optical correction, and provide advice about sun protection of the retina by wearing hats and filtering glasses or tinted lenses.
Visual acuity develops until 6–8 years of age and might be delayed in patients with albinism. Thus, an annual consultation is indispensable during this period or even longer, as it may be necessary to adjust the visual correction more than once a year.
Strabismus and nystagmus can be improved surgically.
Haematological surveillance:
Awareness of a bleeding disorder concerning possible surgery.
Gastrointestinal and pulmonary surveillance:
Abdominal pain, dyspnea and recurrent infections (pneumonia, herpes, conjunctivitis) were described in one patient. Adequate surveillance is therefore warranted in HPS11 patients.
Psychological surveillance:
May be important in cases where self-esteem is affected, in particular because of visible features (hypopigmentation, nystagmus, head posture, low vision …), or if the patient suffers of mockery and stigmatisation or discrimination, often by other children during infancy and adolescence.
Societal and sociocultural aspects:
Albinism remains poorly known by the general public, which results in the underestimation of the patients’ handicap and of the care they require in everyday life including at school.
This concerns both the cutaneous aspects (need for sun protection, avoiding exposure during the sunniest hours of the day) and the ophthalmological aspects (poor vision, nystagmus, head posture).
Explanation of the disease to teachers and other caretakers is overwhelmingly important, so that adequate measures are taken for education in particular: place the child close to the class board, use of monocular magnifier, use of computer or tablet, provide adapted texts (format, contrast)...
It must be reminded that in some countries around the world persons with albinism are victims of discrimination and stigmatisation leading to persecutions, aggressions, kidnapping, mutilations and murders. This is because of myth, superstition and misconceptions telling that albinism is contagious, that affected families have been cursed, or that body parts of persons with albinism may have unusual power.
Therapeutic patient education (TPE):
TPE on the techniques of skin and ocular photoprotection must be undertaken from an early age. It concerns affected children and adults including parents and relatives. For adolescents, education needs to be strengthened. TPE includes knowledge about albinism, know-how (how to apply sunscreen for example) and social skills (communication with others, schooling …).
Genetic counselling:
HPS1 is an autosomal recessive disease. Recurrence risk is 25%.
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