Long-term follow-up of extra-hematologic manifestations in transplants related to underlying disease in patients with FA
| Organ or system affected . | Adverse effects . | Causes . | Follow-up . |
|---|---|---|---|
| General | Short stature Primary or secondary cancer | FA, HSCT FA, HSCT, cGVHD | Annual Dermatology skin cancer screening every 6-12 months Oral self-examinations (or with parents' assistance) once a month Oral cavity examination every 6 months Annual HNSCC examination by an otolaryngologist beginning in early adolescence Annual gynecologic evaluation MRI to detect breast cancer from age 20 Annual esophagoscopy/coloscopy from age 20 Abdominal ultrasound annually to detect liver/kidney tumors or neuroblastoma Increased screening for patients with cGVHD and BRCA2 mutation |
| Skin | Pigmentation, dryness, thickening | FA, cGVHD | Annual |
| CNS | Side effects of radiation Moyamoya syndrome Congenital malformations | HSCT FA | Annual |
| Eyes | Cataract, retinitis Very dry eyes (sicca syndrome) | HSCT cGVHD | Annual As needed |
| Ear, nose, and throat | Sinusitis, very dry mouth (sicca syndrome) Hearing loss | cGVHD FA HSCT | As needed Annual |
| Heart | Congenital anomalies Iron overload | FA Transfusions | As needed As needed |
| Lungs | Side effects of HSCT | HSCT, GVHD | As needed |
| Liver | Chronic liver disease (transaminitis) or cholestasis Iron overload | HSCT, GVHD Transfusions | As needed As needed |
| Kidneys and genitourinary system | Congenital anomalies Chronic renal insufficiency | FA HSCT | As needed As needed |
| GI tract | Congenital anomalies Failure to thrive, functional problems (eg, malabsorption) | FA FA, GVHD | As needed As needed |
| Endocrine | Diabetes Hypothyroidism | FA, GVHD (steroids) FA, HSCT | Annual, if present as needed Annual |
| Gonadal | Virilization Infertility, early menopause | Androgen treatment FA, HSCT | As needed Annual |
| Musculoskeletal | Hand and arm abnormalities Hip dysplasia | FA FA | As needed As needed |
| Psychological | Psychosocial issues (eg, anxiety, depression) | FA, GVHD, HSCT | As needed |
| Modified from Fanconi Anemia Research Fund guidelines16 and Walsh et al.15 | |||
| CNS, central nervous system; GI, gastrointestinal; HNSCC, head and neck squamous cell carcinoma; MRI, magnetic resonance imaging. | |||
| Organ or system affected . | Adverse effects . | Causes . | Follow-up . |
|---|---|---|---|
| General | Short stature Primary or secondary cancer | FA, HSCT FA, HSCT, cGVHD | Annual Dermatology skin cancer screening every 6-12 months Oral self-examinations (or with parents' assistance) once a month Oral cavity examination every 6 months Annual HNSCC examination by an otolaryngologist beginning in early adolescence Annual gynecologic evaluation MRI to detect breast cancer from age 20 Annual esophagoscopy/coloscopy from age 20 Abdominal ultrasound annually to detect liver/kidney tumors or neuroblastoma Increased screening for patients with cGVHD and BRCA2 mutation |
| Skin | Pigmentation, dryness, thickening | FA, cGVHD | Annual |
| CNS | Side effects of radiation Moyamoya syndrome Congenital malformations | HSCT FA | Annual |
| Eyes | Cataract, retinitis Very dry eyes (sicca syndrome) | HSCT cGVHD | Annual As needed |
| Ear, nose, and throat | Sinusitis, very dry mouth (sicca syndrome) Hearing loss | cGVHD FA HSCT | As needed Annual |
| Heart | Congenital anomalies Iron overload | FA Transfusions | As needed As needed |
| Lungs | Side effects of HSCT | HSCT, GVHD | As needed |
| Liver | Chronic liver disease (transaminitis) or cholestasis Iron overload | HSCT, GVHD Transfusions | As needed As needed |
| Kidneys and genitourinary system | Congenital anomalies Chronic renal insufficiency | FA HSCT | As needed As needed |
| GI tract | Congenital anomalies Failure to thrive, functional problems (eg, malabsorption) | FA FA, GVHD | As needed As needed |
| Endocrine | Diabetes Hypothyroidism | FA, GVHD (steroids) FA, HSCT | Annual, if present as needed Annual |
| Gonadal | Virilization Infertility, early menopause | Androgen treatment FA, HSCT | As needed Annual |
| Musculoskeletal | Hand and arm abnormalities Hip dysplasia | FA FA | As needed As needed |
| Psychological | Psychosocial issues (eg, anxiety, depression) | FA, GVHD, HSCT | As needed |
| Modified from Fanconi Anemia Research Fund guidelines16 and Walsh et al.15 | |||
| CNS, central nervous system; GI, gastrointestinal; HNSCC, head and neck squamous cell carcinoma; MRI, magnetic resonance imaging. | |||