Pretransplant evaluation of patients with IBMFS
| • Complete family and patient’s history with careful evaluation of physical findings according to disease type. | ||
| • Multidisciplinary team: Visual, hearing, endocrine, nutritional, and neuropsychologic evaluation in all patients. Oral examination performed by a dentist. Detailed skin examination in FA and TBD. Other evaluations as needed (such as gastrointeistinal endoscopy or nasolaryngoscopy screening) | ||
| • Hematologic evaluation: disease phase (single or multilineage cytopenias, MDS, AML). CBC, fetal hemoglobin, eADA (Diamond-Blackfan anemia), α-fetoprotein, bone marrow aspirate, biopsy, cytogenetics and flow cytometry. FISH for chromosomes 3 and 7 in FA. | ||
| • Previous transfusions (iron overload): Check number of transfusions, chelation history and ferritin levels. Consider T2* MRI to determine liver/heart iron overload. Check for alloimmunization and presence of DSA. | ||
| • Prior use of androgens: describe type, duration and dose. Check for signs of virilization, growth problems, and liver dysfunction. Check abdominal ultrasound, liver function, lipid metabolism, and bone age. | ||
| • Prior use of steroids: describe type, duration, and dose. Check for signs of Cushing’s syndrome; hyperglycemia, hypertension, metabolic syndrome, avascular necrosis, and adrenal insufficiency. | ||
| • For adults: special attention to genitourinary and gynecologic issues. Address fertility and options available for cryopreservation before HCT. Aggressive cancer screening is very important in this population. | ||
| • Lifestyle evaluation: Recommend complete abstinence from smoking and alcohol especially for FA and TBD, good oral hygiene, sunscreen use, healthy diet, and exercise. | ||
| Disease-specific pretransplant evaluation | ||
| FA | DC | DBA |
| Address congenital abnormalities (head, heart, skeletal, genitourinary, and gastrointestinal). | Address congenital abnormalities. Brain MRI is indicated in HH and Revesz and/or development delay | Address congenital abnormalities |
| Brain MRI is indicated for children with multiple birth defects (pituitary gland evaluation) | Immune abnormalities are common in early-onset cases. | Prolonged use of steroids may cause pathologic fractures, avascular necrosis, cataracts, growth retardation, hypertension, and diabetes |
| Avascular necrosis of the hips | ||
| Attention to endocrine problems such as short stature, thyroid function, glucose, gonadal function, and lipid metabolism | Attention to PFTs and SpO2 before HCT. Chest CT scan when indicated. | Iron overload is the major complication leading to heart and liver hemosiderosis, insulin-dependent diabetes mellitus, hypothyroidism, and delayed puberty |
| Postpuberty: Fertility evaluation | Check for signs of pulmonary and liver fibrosis and arteriovenous malformations in the lung, liver, and gastrointestinal tract, especially in adult patients | |
| • Complete family and patient’s history with careful evaluation of physical findings according to disease type. | ||
| • Multidisciplinary team: Visual, hearing, endocrine, nutritional, and neuropsychologic evaluation in all patients. Oral examination performed by a dentist. Detailed skin examination in FA and TBD. Other evaluations as needed (such as gastrointeistinal endoscopy or nasolaryngoscopy screening) | ||
| • Hematologic evaluation: disease phase (single or multilineage cytopenias, MDS, AML). CBC, fetal hemoglobin, eADA (Diamond-Blackfan anemia), α-fetoprotein, bone marrow aspirate, biopsy, cytogenetics and flow cytometry. FISH for chromosomes 3 and 7 in FA. | ||
| • Previous transfusions (iron overload): Check number of transfusions, chelation history and ferritin levels. Consider T2* MRI to determine liver/heart iron overload. Check for alloimmunization and presence of DSA. | ||
| • Prior use of androgens: describe type, duration and dose. Check for signs of virilization, growth problems, and liver dysfunction. Check abdominal ultrasound, liver function, lipid metabolism, and bone age. | ||
| • Prior use of steroids: describe type, duration, and dose. Check for signs of Cushing’s syndrome; hyperglycemia, hypertension, metabolic syndrome, avascular necrosis, and adrenal insufficiency. | ||
| • For adults: special attention to genitourinary and gynecologic issues. Address fertility and options available for cryopreservation before HCT. Aggressive cancer screening is very important in this population. | ||
| • Lifestyle evaluation: Recommend complete abstinence from smoking and alcohol especially for FA and TBD, good oral hygiene, sunscreen use, healthy diet, and exercise. | ||
| Disease-specific pretransplant evaluation | ||
| FA | DC | DBA |
| Address congenital abnormalities (head, heart, skeletal, genitourinary, and gastrointestinal). | Address congenital abnormalities. Brain MRI is indicated in HH and Revesz and/or development delay | Address congenital abnormalities |
| Brain MRI is indicated for children with multiple birth defects (pituitary gland evaluation) | Immune abnormalities are common in early-onset cases. | Prolonged use of steroids may cause pathologic fractures, avascular necrosis, cataracts, growth retardation, hypertension, and diabetes |
| Avascular necrosis of the hips | ||
| Attention to endocrine problems such as short stature, thyroid function, glucose, gonadal function, and lipid metabolism | Attention to PFTs and SpO2 before HCT. Chest CT scan when indicated. | Iron overload is the major complication leading to heart and liver hemosiderosis, insulin-dependent diabetes mellitus, hypothyroidism, and delayed puberty |
| Postpuberty: Fertility evaluation | Check for signs of pulmonary and liver fibrosis and arteriovenous malformations in the lung, liver, and gastrointestinal tract, especially in adult patients | |
These are disease-specific evaluations. All patients with IBMFS should undergo other regular pretransplant evaluation according to each BMT center. A more complete description of system involved in patients with IBMFS can be found in Alter.1 AML, acute myeloid leukemia; BMT, bone marrow transplantation; CBC, complete blood counts with differential and reticulocytes; CT, computed tomography; DSA, donor-specific antibodies; eADA, erythrocyte adenosine deaminase; FISH, fluorescent in situ hybridization; HH, Hoyeraal-Hreidarsson syndrome; MDS, myelodysplastic syndrome; MRI, magnetic resonance imaging; SpO2, saturation of oxygen by pulse oximetry.