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Bone health
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DEXA to evaluate BMD at 1 year then annually if abnormal
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DBA: can have significantly poor bone health (iron overload, endo, steroids)DC: commonly have osteoporosis
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Vitamin D level annual while on IST or in growing child
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Optimize calcium + vitamin D intake
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MRI to rule out or stage AVN
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Refer to Orthopedics if MRI confirms AVN findings
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Skin
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Examine for GVHD and subsequent neoplasms
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See also “cGVHD” and “Subsequent Neoplasm” sections in this table for details
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Endocrine
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Plot height, weight, growth velocity, BMI on growth charts at least annually Bone age (left wrist) peri‐pubertally and before final adult height Evaluate suspected nutritional deficiency, obesity or sarcopenic obesity*
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Evaluate for GH deficiency if reduced height velocity >1‐year post‐HCT. Refer to endocrinology if suspect GH deficiency especially if pre‐pubertalFA: full endocrine evaluation including GH levels (potentially with stimulation testing), IGF1, IGFBP3, Tanner staging and bone ageThalassemia: hypogonadism is common due to iron‐overload and busulfan or treosulfan‐based conditioning
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Free T4, TSH annually
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Full‐dose TBI, and to lesser extent high‐dose targeted BU particularly at risk for thyroid dysfunctionIf high TSH and normal Free T4, repeat in 2 monthsThyroid hormone replacement if high‐TSH/low T4 or persistently very high or progressively elevated TSH. Use lowest dose to achieve a mid‐normal range TSH
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Annual Tanner stage From age 11 years, serum FSH, LH, estradiol (girls), free serum testosterone (boys) annually
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Full dose TBI, high‐dose targeted busulfan, at higher risk for delayed puberty as well as patients with FA, DBA, DC and those with severe‐iron‐overloadRefer to endocrinologist, gynecologist, or urologist with abnormal pubertal timing or gonadal dysfunctionTreat ovarian failure with hormone replacement therapy
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Infertility
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Consider anti‐Mullerian hormone (AMH) to assess ovarian reserve if >25 years of age
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Thalassemia: young pre‐pubertal less at risk (gonadal dormancy and shorter iron‐overload exposure)Referral to reproductive endocrinology, gynecology, urology as neededConsider semen analysis if age‐appropriate older male seeks fertility potential
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Neurocognitive
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Developmental milestone screen Educational or vocational progress Consider formal neuropsychological testing at 1 year or later
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Neuropsychological test results may help develop a suitable individualized educational plan (IEP)Very high‐risk: >12 Gy TBI ± cranial radiation < age 4 y, FA, DC, DBA with craniofacial abnormalities and large ribosomal protein gene deletions, ALD, Hurler syndrome, SCD, and some forms of SCID
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SCD: Brain MRA/MRI at 1‐year if pre‐HCT moya moya or stroke
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Repeat every 2 years as clinically indicated
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Ask about neuropathy symptoms
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Gabapentin, pregabalin therapy might be indicated
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Psychological, quality of life
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Screen at least annually for pain, fatigue, sleep disturbance, anxiety, depression, social reintegration, non‐adherence to health recommendations and medications, and high‐risk behaviors
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If positive depression screen, ask about suicidal ideationFA, DC, DBA: genetic counseling for patient and family, assistance with family planningCounseling about living with chronic conditions
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Subsequent neoplasms
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Baseline (general population screening guidelines): Full physical by healthcare provider yearly Urinalysis for hematuria Protect against sunlight and avoid excessive UV or radiation exposures
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Special high‐risk diagnosis screening:DC: ENT with nasolaryngoscopy yearlyDBA: screening for luminal GI cancers, osteosarcoma [124]FA due to mutations in FANCD1/BRCA2 or FANCN/PALB2 need genotype specific cancer screening because of increased risks of medulloblastoma, Wilms tumor and other cancersLi Fraumeni (TP53 screening): complete physical examination every 3–4 months with blood pressure, anthropometry, evaluation for precocious puberty, and full neurologic examination. Imaging includes abdominal and pelvic ultrasound (± serum testosterone, DHEA and androstenedione) every 3–4 months, annual whole‐body MRI including brain (initially with contrast and thereafter without contrast if previous MRI normal and no new abnormality) [114]Liver US every 6 months if HBV+ or cirrhosis
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Thyroid palpation annual
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Rare thyroid tumors post‐TBI can often be cured with surgery
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Full skin examination at least annual for BCC, SCC, melanoma.
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If received full dose TBI or in FA, DC, skin screening by dermatologist every 6–12 months (increased risk SCC of head, neck, anogenital)
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Oral examination annual
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FA, DC: oral, skin, ENT examinations every 6 months.
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Mammogram annual begins at age 40 Gynecology evaluation with PAP beginning age 18–21 HPV vaccination (see “Infection and Immunity” above
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Chest wall radiation, BRCA1/2, ATM gene mutations: annual mammogram (or MRI in some) starting age 25 or 8 years after radiation (whichever later but not age >40)Gynecology examinations might start sooner in girls with cGVHDFA: Annual gynecologic evaluation for PAP smear and HPV screening, starting in the early teenage years
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Abbreviations: AHA, American Heart Association; ALD, adrenoleukodystrophy; AML, acute myelogenous leukemia; AVN, avascular bone necrosis; BCC, basal cell carcinoma; BMD, bone mineral density; BMI, body mass index; BOS, bronchiolitis obliterans syndrome; CBC, complete blood count; cGVHD, chronic graft versus host disease, CPK, creatine phosphokinase; CRP, C‐reactive protein; DBA, Diamond‐Blackfan Anemia; DC, dyskeratosis congenita; DLI, donor lymphocyte infusion; DTaP, diphtheria‐tetanus‐acellular pertussis; ECG, electrocardiogram; ECO, encapsulated organism; ESR, erythrocyte sedimentation rate; FA, Fanconi anemia; Free T4, free thyroxine; GH, growth hormone; GVHD, graft versus host disease; HDL, high density lipoprotein; HH, hereditary hemochromatosis; HFE, high ferrous gene; HPV9, 9‐valent human papilloma virus vaccine; IGF‐1, insulin‐like growth factor 1; IGFB3, insulin‐like growth factor binding protein 3; IPV, inactivated polio vaccine; IST, systemic immunosuppressive therapy; LDL, low density lipoprotein, LFT, liver function tests; MCV, mean corpuscular volume; MDS, myelodysplastic syndrome; NMD, non‐malignant disease; NMT, nonmyeloablative transplantation; PCV13, 13‐valent pneumococcal‐conjugated vaccine; PID, primary immunodeficiency disease; PFT, pulmonary function tests; PPSV23, 23‐valent pneumococcal‐polysaccharide vaccine; P‐ROM, photographic range of motion assessment; RIC, reduced intensity conditioning; SCC, squamous cell carcinoma; SCD, sickle cell disease; SCID, severe combined immunodeficiency disease; TSH, thyroid stimulating hormone; TRJV, tricuspid regurgitation jet velocity; WAS, Wiskott Aldrich Syndrome.
Extreme iron overload (LIC >15) is aggressively treated to mitigate risks for dysrhythmias and cardiac failure, portal fibrosis and cirrhosis, diabetes mellitus and other endocrinopathies. Iron overload also increases susceptibility to infections due to mucor, aspergillosis, Listeria monocytogenes, non‐cholera Vibrio species, and Yersinia enterocolitica, among others [20,24]. LIC >15 is usually treated by monthly phlebotomy ± an iron chelator. LIC 7–15 is treated with phlebotomy or, second choice with a single iron chelator. When LIC is 2–7,
