Posttransplant evaluation of patients with IBMFS
| • General recommendations: Maintain healthy diet, regular exercise, good oral hygiene, and sunscreen use. | ||
| • Recommend complete abstinence from alcohol and smoking (including vaping). | ||
| • Ensure HPV vaccination for all patients. | ||
| • Posttransplant evaluation is a multidisciplinary teamwork. Consider organizing a LTFU clinic in collaboration with other specialists (endocrinologists, dentists, head and neck oncologists, gynecologists, and others). | ||
| • Consider working together with family associations and organizing regional/national family meetings as this may help patients, increase disease awareness, and improve research | ||
| • Attention to neurocognitive issues, especially in patients with development delays | ||
| • Psychologic evaluation and psychologic support | ||
| • Address visual and hearing problems as they may impact the learning process and decrease academic achievements and quality of life | ||
| • Annual liver, kidney, and gastrointestinal evaluation. Cardiac and pulmonary evaluation every other year, except for DC patients (see below) | ||
| • Annual endocrine evaluation: growth assessment, glucose, lipid metabolism. Assess gonadal function and bone mineral density | ||
| • For postpubertal female patients: annual gynecologic evaluation. Discuss fertility options. | ||
| • For male patients: gonadal function and spermogram | ||
| • Iron overload: Check ferritin levels within 6 mo to 1 y of transplantation. Consider T2* MRI to determine liver iron overload. Phlebotomy is the first choice of treatment; second is desferasirox | ||
| • GVHD increases the risk of cancer after HCT for all patients with IBMFS. Treatment of GVHD with steroids may be associated with metabolic syndrome, diabetes, avascular necrosis, and adrenal insufficiency. | ||
| • Aggressive cancer surveillance. Cancer risk increases as patients get older and in the presence of GVHD | ||
| • Dermatologic evaluation: skin cancer screening every 6-12 mo | ||
| • Oral examination performed by a dentist every 6-12 mo. Encourage monthly oral self-examination | ||
| Disease-specific posttransplant complications | ||
| FA | DC | DBA |
| Endocrinologic problems are very frequent after HCT, including thyroid dysfunction, fertility, hypogonadism, and growth hormone (GH) deficiency. | Pulmonary and liver complications are the major problems after HCT | Iron overload is the major complication after HCT, and LTFU problems include diabetes, delayed puberty, and hypothyroidism. |
| Short stature can be treated with GH after 6 mo of HCT, if GH deficiency is confirmed.27 | Perform annual PFTs and check SpO2 and signs of pulmonary and/or liver fibrosis and arteriovenous malformations (lung, liver, and gastrointestinal tract) after HCT 30,35 | Other problems include those related to chronic steroid use and fertility issues.38,39 |
| Cancer risk9 | ||
| Skin SCC and basal cell carcinoma | Skin SCC and basal cell carcinoma | Colorectal carcinoma |
| Head and neck and anorectal and vulvar SCC | Head and neck anorectal SCC | Osteogenic sarcoma |
| Esophagus, breast, and brain cancer | Esophagus, stomach, and lung cancer | |
| • General recommendations: Maintain healthy diet, regular exercise, good oral hygiene, and sunscreen use. | ||
| • Recommend complete abstinence from alcohol and smoking (including vaping). | ||
| • Ensure HPV vaccination for all patients. | ||
| • Posttransplant evaluation is a multidisciplinary teamwork. Consider organizing a LTFU clinic in collaboration with other specialists (endocrinologists, dentists, head and neck oncologists, gynecologists, and others). | ||
| • Consider working together with family associations and organizing regional/national family meetings as this may help patients, increase disease awareness, and improve research | ||
| • Attention to neurocognitive issues, especially in patients with development delays | ||
| • Psychologic evaluation and psychologic support | ||
| • Address visual and hearing problems as they may impact the learning process and decrease academic achievements and quality of life | ||
| • Annual liver, kidney, and gastrointestinal evaluation. Cardiac and pulmonary evaluation every other year, except for DC patients (see below) | ||
| • Annual endocrine evaluation: growth assessment, glucose, lipid metabolism. Assess gonadal function and bone mineral density | ||
| • For postpubertal female patients: annual gynecologic evaluation. Discuss fertility options. | ||
| • For male patients: gonadal function and spermogram | ||
| • Iron overload: Check ferritin levels within 6 mo to 1 y of transplantation. Consider T2* MRI to determine liver iron overload. Phlebotomy is the first choice of treatment; second is desferasirox | ||
| • GVHD increases the risk of cancer after HCT for all patients with IBMFS. Treatment of GVHD with steroids may be associated with metabolic syndrome, diabetes, avascular necrosis, and adrenal insufficiency. | ||
| • Aggressive cancer surveillance. Cancer risk increases as patients get older and in the presence of GVHD | ||
| • Dermatologic evaluation: skin cancer screening every 6-12 mo | ||
| • Oral examination performed by a dentist every 6-12 mo. Encourage monthly oral self-examination | ||
| Disease-specific posttransplant complications | ||
| FA | DC | DBA |
| Endocrinologic problems are very frequent after HCT, including thyroid dysfunction, fertility, hypogonadism, and growth hormone (GH) deficiency. | Pulmonary and liver complications are the major problems after HCT | Iron overload is the major complication after HCT, and LTFU problems include diabetes, delayed puberty, and hypothyroidism. |
| Short stature can be treated with GH after 6 mo of HCT, if GH deficiency is confirmed.27 | Perform annual PFTs and check SpO2 and signs of pulmonary and/or liver fibrosis and arteriovenous malformations (lung, liver, and gastrointestinal tract) after HCT 30,35 | Other problems include those related to chronic steroid use and fertility issues.38,39 |
| Cancer risk9 | ||
| Skin SCC and basal cell carcinoma | Skin SCC and basal cell carcinoma | Colorectal carcinoma |
| Head and neck and anorectal and vulvar SCC | Head and neck anorectal SCC | Osteogenic sarcoma |
| Esophagus, breast, and brain cancer | Esophagus, stomach, and lung cancer | |
These are disease-specific recommendations. All patients with IBMFS should undergo other regular posttransplant evaluation according to published guidelines.1,15 LTFU, long-term follow-up; SpO2, oxygen saturation by pulse oximetry.