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Refractive errors
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Correction of refractive errors to improve visual acuity Aids (e.g., handheld magnifying devices, bioptic lenses) as needed Preferential seating in school Low vision consultant as needed
| Recommend UV-blocking sunglasses. |
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Strabismus
| Surgery for strabismus is indicated when misalignment cannot be corrected by medical measures. | Surgery is not usually required & is not always successful. |
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Skin
| Protection from sun to prevent burning, skin damage, & skin cancer:
Protective clothing (hats w/brims, long sleeves, pants, socks) for prolonged exposure Sunscreen w/high SPF (45-50+) for sun-sensitive persons; SPF (15+) for less sun-sensitive persons
| Recommendations are based on individual skin pigment & cutaneous response to sunlight. In very sun-sensitive persons, sun exposure of 5-10 mins can be damaging; in less sun-sensitive persons, exposure of ≥30 minutes is damaging. |
| Standard treatments for skin cancer | |
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Bleeding
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Thrombin-soaked Gelfoam® can be used on minor wounds that fail to clot spontaneously. Recommend medical alert bracelet that explicitly describes the functional platelet defect, as the standard tests for bleeding dysfunction (e.g., platelet count, prothrombin time, partial thromboplastin time) are normal in those w/HPS.
| Recommend bleeding mgmt plan in coordination w/coagulation specialist, schools, family, & primary care providers. |
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Epistaxis
| Humidifiers may ↓ frequency of nosebleeds. | |
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Menorrhagia
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| Anti-fibrinolytics, such as aminocaproic acid & tranexamic acid, can ↓ severity of bleeding. |
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Surgical bleeding
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For more invasive trauma, such as wisdom tooth extraction, DDAVP® (desmopressin acetate), 0.3 µg/kg in 50 mL of normal saline, can be given as a 30- to 60-min IV infusion just prior to procedure. For extensive surgeries or protracted bleeding, platelet or RBC transfusions may be required. For elective surgical procedures w/estimated moderate or greater blood loss, HLA-matched single-donor platelets should be used. Recommend having platelets on standby for all surgical procedures w/risk of significant bleeding.
| Not all affected persons respond to DDAVP®, & responsiveness testing is recommended. 1 |
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Pulmonary fibrosis
| Maximize pulmonary function:
Prompt treatment of asthma & pulmonary infections Influenza, pneumococcal, & COVID-19 vaccines Regular moderate exercise Optimized treatment for concomitant reactive airways disorders
| Affected persons should be counseled to avoid all recreational inhalational products, chemical & physical substances (e.g., organic/inorganic fibers, volatile chemicals), & use of medications assoc w/drug-induced pulmonary fibrosis (e.g., methotrexate, bleomycin, amiodarone, nitrofurantoin). |
| Oxygen therapy for severe pulmonary disease | Oxygen therapy is life-sustaining for persons w/advanced-stage disease & helps forestall development of secondary pulmonary hypertension. |
| Bilateral or single-lung transplantation if appropriate 2 | |
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Colitis
| HPS-related colitis may respond to steroids & other anti-inflammatory agents. 3 Remicade® has also been used w/benefit. 4 | HPS-related colitis can affect upper intestinal structures & is assoc w/extraintestinal manifestations such as pyoderma gangrenosum. |
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Immunodeficiency
| Typically responsive to granulocyte colony-stimulating factor | Recommend infection prevention plan in coordination w/infectious disease specialist, schools, family, & primary care providers. |
