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Alternatively, You Can Access the Complete PDF of the FD/MAS FD/MAS Toolkit Introduction ● About this Toolkit and How to Keep it Updated ● FD/MAS Treatment guidelines Patient Profile ● Basic Medical Info rmation ● Current Medications list ● Clinicians Managing Your Care Research ● General information Fibrous Dysplasia McCune-Albright Syndrome: a general overview ● Craniofacial management General Guidelines for Craniofacial Care and FD Long-term Outcomes of Optic Nerve Encasement Hearing Loss and FD ● Axial and Appendicular management General Surgical Management of FD Bone Grafting in FD Managing Scoliosis in FD *Please see also both articles on bisphosphonates within the Pain section ● Endocrine management Extra-skeletal manifestations of FD/MAS: General Management ● Pain management Pathophysiology and treatment of Pain in FD/MAS Oral Bisphosphonates and Pain: A Double-Blind Placebo Study Notes and Follow Up ● Patient Notes: An Organization Tool for Medical Visits ● Storage for Official Documents and CDs Registry Surveys Print your Registry Surveys and store a copy in these folders. These copies can help you communicate your medical history during conversations with your doctors or during intake processes for doctor and hospital visits. ● Basic Information ● Pain ● Diagnosis ● Pain Follow up ● Birth, Puberty, Reproductive ● Pain Medication History ● Other Medications ● Fractures ● Day to Day Needs ● Endocrine & Other symptoms ● Mental Health & Well-Being ● Skeletal Surgeries Other resources ● Physician Nomination Forms We invite you to nominate any medical professionals who have provided you with excellent FD/MAS care. Your FD/MAS Toolkit About This Resource The FD/MAS Toolkit is a resource to empower patients and caregivers and help them navigate the best care possible. Between tracking medication dosages, fractures and surgeries, insurance plans and more, fibrous dysplasia and McCune-Albright syndrome (FD/MAS) can be a time consuming disease. That’s why we’ve created this binder, a tool to help you plan and stay organized and up to date. Keep Your Toolkit Up To Date Your FD/MAS Toolkit will be most useful if you keep it up to date when new research is published. We’ll help you keep this resource up to date by: ● Updating the Library of Published Research on www.fibrousdysplasia.org ● Sharing news about research and treatment in the FDF e-Newsletter Many of the resources in this binder are personalized tools for your FD/MAS treatment plan. You can keep those resources up to date by: ● Visit www .fibrousdysplasia.org/toolkit to print extra copies of these resources, including ○ Basic Medical Information ○ Medication List ○ Medical Care Team List ○ Appointment Notes and Visit Follow Up Sheet ● Visit www .fdmasregistry.org and update any surveys in your “updateable surveys” tab. Print survey updates and include those updates in your survey sleeves We recommend updating your Registry surveys and this binder every two years. That way you’ll be prepared with a meaningful resource for yourself and you clinicians when you go to any medical appointment and or hospital visit. Questions and Comments If you have questions or comments, please reach out to [email protected] Treatment Guidelines for FD/MAS The following are set of recommendations for the diagnosis, treatment, and follow-up of patients with FD and/or MAS. They are somewhat technical and it may be useful to discuss them with your doctor. Detailed explanations for these recommendations may be found in the Research section of this Toolkit. Recommendations for Endocrine Follow-up of Patients with FD/MAS 1. Pituitary: Growth hormone (GH) and prolactin (PRL) excess are common in MAS (20%). The signs and symptoms can be very subtle. GH excess can worsen craniofacial (CF) bone disease. 1. All patients should have an oral glucose tolerance test (OGTT) to assess for non-suppressible GH at least once (GH > 2.0 ng/ml at 60 min on standard OGTT is diagnostic). 2. Non-suppressible GH with elevated insulin-like growth factor-1 (IGF-1) should be treated 3. What to do with non-suppressible GH and normal IGF-1 is not clear (these patients will have an abnormal overnight GH secretion pattern) 2. Thyroid: Hyperthyroidism is common. 1. Check thyroid function tests (TSH, FT4, T3, T4). T3 dominant hyperthyroidism is most common, 40%) 2. Treat with an oral anti-thyroidal (methimazole, PTU) 3. If definitive treatment is needed, we recommend surgery not radioiodine (thyroid cancer in MAS is rare, and radioiodine could be an additional risk factor beyond the Gs mutation). 4. Annual ultrasound of the thyroid to follow lesions and biopsy clearly dominant, large or changing lesions. 3. Parathyroid: Primary hyperparathyroidism is rare, secondary (to vitamin D deficiency) is common. 1. Check ionized calcium or total calcium and PTH annually. 4. Adrenal: Cushings in the neonatal period occurs, but has not been reported past the first year. Some cases of neonatal Cushings resolve spontaneously. 1. Check adrenal reserve in resolved cases of neonatal Cushings. 5. Renal: Phosphate wasting with or without hypophosphatemia, and/or rickets/osteomalacia is common (40%). 1. Check serum phosphate and renal phosphate handling (second AM void or 24 hour urine for TMP/GFR). 2. Treat frankly low or low-normal serum phosphate with low TMP/GFR 3. See separate treatment algorithm. 6. Gonads: Precocious puberty (PP) in girls is common, PP in boys is less common, small testicular masses of leydig cell hyperplasia are common. 1. Treat PP in girls with an aromatase inhibitor (preferred), or tamoxifen. 2. Treat PP in boys with an aromatase inhibitor and an anti-androgen. 3. Check for and treat secondary central PP in children with PP with a long-acting GnRH agonist. 4. Check for Leydig cell masses in men with screening testicular ultrasounds suspicious masses should undergo excisional biopsy to exclude cancer. Recommendations for Follow-up of Patients with FD/MAS 1. Craniofacial: very common, especially skull base, vision loss is uncommon, hearing loss even more uncommon, sarcomatous degeneration is rare, while axial and appendicular FD quiets with age, CF probably continues to slowly progress. 1. Find a craniofacial and neurosurgical team experienced in treating CF FD! 2. Avoid surgery in the absence of visual or hearing impairment. (nerves may be surrounded by and unaffected by FD bone for decades). 3. Severe pain or disfigurement may be an indication for surgery as well. 4. Annual vision testing by a neuro-ophthalmologist and annual hearing testing are recommended. 5. Annual CT of skull and mandible are recommended. 6. Screen for and treat all endocrinopathies which adversely affect bone. 7. Little evidence that bisphosphonates are effective in CF FD (even for pain). 8. Bone scan at baseline and at some interval, potentially every few years. 2. Axial and Appendicular skeleton: very common, fractures frequent (esp. before 15 y.o.), shepherd’s crook deformity common, pain common, sarcomatous degeneration (cancer) rare. 1. Find an orthopedic surgeon experienced with FD! 2. In general, less is better in the surgical treatment of FD. 3. Bracing may potentially be helpful 4. Screen for and treat all endocrinopathies which adversely affect bone. 5. Bone scan at baseline and at some interval, potentially every few years. 6. Bisphosphonates can decrease pain and markers of bone turnover, probably no effect on course of disease or fracture rate. 7. Maintaining strength is important. Swimming is an excellent exercise, cycling is good also. Recommendations for Treatment of Rickets/Osteomalacia/Hypophosphatemia 1. Goal: Serum phosphorus in the age-appropriate normal range 2. Treatment: 1. Phosphorus: 15-60 mg/kg/day (1-3 g/day adults), divided, 4-5 times per day Phosphorus treatment usually causes secondary hyperparathyroidism, so 1,25 vitamin D (calcitriol) is usually added to prevent this. 2. Treatment with calcitriol not only prevents secondary hyperparathyroidism but may also increases GI phosphorus absorption, improve bone healing (especially at high doses, and improve renal tubular maximum for phosphate reabsorption (i.e. increase TmP/GFR). 3. Calcitriol: approximately 30 ng/kg/day (1.5 µg/day, (six 0.25 µg pills/day) for a 70 kg man), range15-60 ng/kg/d (three-twelve 0.25 µg pills/day) 3. Possible Complications: 1. Hypercalciuria (high urine calcium). With kidney stones (nephrolithiasis) or kidney calcification (nephrocalcinosis) and decreased kidney function. 2. Hypercalcemia (high blood calcium). Less common than hypercalciuria. 3. GI upset. Due to the phosphate. Dividing the doses over 4-5 times per day and with food helps. 4. Follow-up: 5. Baseline ultrasound of the kidneys to rule out nephrolithiasis or nephrocalcinosis (which some patients are at risk for at the outset). 6. Every 3 month urine test (second A M void) for calcium (Ca) and creatinine (Cr), if Ca/Cr >= 0.20, check urine for blood, if presnt, decrease calcitriol, and obtain 24 hour urine for calcium and creatinine with the goal to keep urinary calcium in the normal range. If it is high, decrease calcitriol again. If Ca/Cr <= 0.20 and serum phos and PTH ok, maintain regimen (pediatric urinary calcium: Ca/Cr upper limit: < 7mo 0.86, 7-18 mo 0.6, 19 mo – 6 y 0.42: 24 hr urine: < 4mg/kg/24hr). 7. Every 3 month serum calcium, phosphorus, and PTH. FD/MAS Toolkit: Medical Background Patient Information Emergency Contact Name:____________________________________ Contact & Relationship:_______________________ DOB:_____________________________________ Phone:____________________________________ Phone:____________________________________
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