FA, DC, DBA: follow‐up congenital genitourinary anomalies with a urologist and renal abnormalities and renal function with a nephrologistDC: exam for urethral stenosis
Urine microalbumin: creatinine ratio
If >30 mg/gm and <300 mg/gm, repeat with at least two tests in 3–6 monthsIf >300 mg/gm repeat every 3–6 monthsIf >300 mg/gm on one occasion or if >30 mg on 3 occasions within 6 months and has hypertension, consider treatment with an ACEI or ARB
Renal biopsy
If suspect TMA or unexplained kidney disease.
Musculoskeletal
Serum CPK, aldolase, CRP, ESR
If investigating cGVHD‐associated myositis/myopathy, or following myopathy/myositis while on tapered IST
Spine X‐ray
FA: screen for scoliosis
Bone health
DEXA to evaluate BMD at 1 year then annually if abnormal
DBA: can have significantly poor bone health (iron overload, endo, steroids)DC: commonly have osteoporosis
Vitamin D level annual while on IST or in growing child
Optimize calcium + vitamin D intake
MRI to rule out or stage AVN
Refer to Orthopedics if MRI confirms AVN findings
Skin
Examine for GVHD and subsequent neoplasms
See also “cGVHD” and “Subsequent Neoplasm” sections in this table for details
Endocrine
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*
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
Free T4, TSH annually
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
Annual Tanner stage From age 11 years, serum FSH, LH, estradiol (girls), free serum testosterone (boys) annually
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
Infertility
Consider anti‐Mullerian hormone (AMH) to assess ovarian reserve if >25 years of age
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
Neurocognitive
Developmental milestone screen Educational or vocational progress Consider formal neuropsychological testing at 1 year or later
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
SCD: Brain MRA/MRI at 1‐year if pre‐HCT moya moya or stroke
Repeat every 2 years as clinically indicated
Ask about neuropathy symptoms
Gabapentin, pregabalin therapy might be indicated
Psychological, quality of life
Screen at least annually for pain, fatigue, sleep disturbance, anxiety, depression, social reintegration, non‐adherence to health recommendations and medications, and high‐risk behaviors
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
Subsequent neoplasms
Baseline (general population screening guidelines): Full physical by healthcare provider yearly Urinalysis for hematuria Protect against sunlight and avoid excessive UV or radiation exposures
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
Thyroid palpation annual
Rare thyroid tumors post‐TBI can often be cured with surgery
Full skin examination at least annual for BCC, SCC, melanoma.
If received full dose TBI or in FA, DC, skin screening by dermatologist every 6–12 months (increased risk SCC of head, neck, anogenital)
Oral examination annual
FA, DC: oral, skin, ENT examinations every 6 months.
Mammogram annual begins at age 40 Gynecology evaluation with PAP beginning age 18–21 HPV vaccination (see “Infection and Immunity” above
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
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
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