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Scoliosis/Kyphosis
| Standard treatments per orthopedist | |
Degenerative hip
disease
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| Some affected persons who have survived beyond childhood have undergone hip replacement. |
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Osteopenia
| Standard treatments for osteopenia |
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Renal disease
| Cyclosporin A, tacrolimus, or corticosteroids | Resulted in transient reduction in renal disease progression in a few persons |
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Neither nephropathy nor arteriosclerosis recurs in the graft. 1 Mild immunosuppressive therapy (immunosuppressive monotherapy), appears to improve outcome after renal transplant. 2 Performing HSCT prior to renal transplantation from same donor may allow for rapid weaning of immunosuppressive therapy. 3
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Immune deficiency /
Recurrent infections
| Treatment per immunologist incl:
Acyclovir for recurrent herpetic infections &/or shingles; consider prophylactic acyclovir. Imiquimod & cidofovir for severe disseminated cutaneous papilloma virus infections Vaccine protocol for other T cell immunodeficiencies (i.e., only inactivated vaccines w/avoidance of all live-attenuated vaccines) in those w/T cell immunodeficiency Consider prophylaxis (trimethoprim/sulfamethoxazole or atovaquone) against Pneumocystis jirovecii pneumonia due to ↑ risk of opportunistic infection.
Neutropenia usually responds well to granulocyte colony-stimulating factor or granulocyte-macrophage colony-stimulating factor. |
Using myeloablative conditioning, 1 person was successfully treated by HSCT, 4 but 4 others so treated died from transplant-related complications. 5 3 children who underwent HSCT after ↓-intensity conditioning did well w/minimal post-transplant toxicity or graft-versus-host disease. 3
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Thrombocytopenia
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Immunosuppressive therapy (steroids, cyclophosphamide, or IVIG) Thrombopoietin-receptor agonists Platelet transfusions as needed Splenectomy may be considered if recommended by hematologist.
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Anemia
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Transfusions as needed Anemia is often refractory to erythropoietin, but it can still be used. Consider eval for bone marrow failure.
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Dental anomalies
| Treatment per dentist &/or orthodontist | |
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Development delay
| Referral for formal developmental eval & supportive treatment | If significant developmental delays or schooling delays are identified |
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Migraine headaches
| Ergotamine, sumatriptan, verapamil, & propranolol have helped some persons. | Note: Ergotamine & sumatriptan are contraindicated in persons w/SIOD w/severe vaso-occlusive disease or cerebral ischemic events. |
Transient ischemic
attacks &/or strokes
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Agents that improve blood flow or ↓ coagulability (pentoxifylline, acetylsalicylic acid, dipyridamole, warfarin, heparin) may provide temporary improvement. Blood pressure control ACE inhibitors have also been used w/variable results.
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To date, no curative or effective long-term therapies have been identified. If RVCS is identified, consider use of calcium channel blockers w/neurologist consultation.
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Hypothyroidism
| Levothyroxine if needed | |
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Malignancy
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Risk from genotoxic agents is present but no cancer therapeutics need to be avoided. For HSCT, the authors have used ↓-intensity conditioning considering ↑ risk of sensitivity to genotoxic agents & telomere shortening that has been identified in several persons. 7
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