guidebook. - Fanconi Anemia Research Fund

More documents

Recommendations

Info

Chapter 8: Hearing and Ear Abnormalities in FA 175 Hearing and Ear Screening for FA Family Members When a patient is diagnosed with FA, his or her siblings must also be tested to rule out FA. More than 50% of the individuals with FA have hearing loss and abnormal eardrums and middle ear bones. If a sibling does not test positive for FA via a chromosomal breakage test but has classic FA-related ear and hearing findings, the hematologist may wish to rule out FA with further genetic tests, including a clastogen-induced chromosomal breakage test in skin fibroblasts. Approximately 10% to 20% of FA patients with somatic mosaicism may have normal peripheral blood chromosomal breakage tests. 7 In the absence of obvious clinical presentations like absent thumbs and aplastic anemia, a diagnosis of FA is often delayed. Early detection and diagnois of FA means prompt early surveillance, appropriate timely treatment, and eventually improved overall prognosis. Regular Periodic Auditory Monitoring FA patients are predisposed to recurrent infections from neutropenia, multiple blood transfusions for severe anemia, and solid organ and hematologic malignancies. Consequently, they are more likely to receive ototoxic intravenous antibiotics (e.g., aminoglycoside), ironchelating agents (e.g., desferoxamine), and chemotherapy agents (e.g., cisplatin). While they are exposed to these ototoxic agents, their auditory function should be closely monitored with serial audiograms. Conclusions 1) Congenital hearing loss and eardrum and middle ear malformations are more commonly associated with FA than previously reported.
176 <strong>Fanconi</strong> <strong>Anemia</strong>: Guidelines for Diagnosis and Management 2) All patients with FA should undergo comprehensive ear examination and audiologic evaluation by an otolaryngologist and audiologist, respectively, who are familiar with FA. 3) FA-related hearing problems can often be successfully treated with either appropriate amplification and/or surgical correction. Useful Resources for Hearing Impaired Alexander Graham Bell Association for the Deaf and Hard of Hearing 3417 Volta Place, NW Washington, DC 20007 202-337-5220; 202-337-5221 (TTY) info@agbell.org American Academy of Audiology 11730 Plaza America Drive, Suite 300 Reston, VA 20190 800-AAA-2336 (V) American Academy of Otolaryngology-HNS One Prince Street Alexandria, VA 22314 703-836-444 (V) www.entnet.org American Speech-Language-Hearing Association 10801 Rockville Pike Rockville, MD 20852 301-897-5700 (V/TTY) 800-638-8255 (V/TTY)
Page 1 and 2:
Fanconi Anemia: Guidelines for Diag
Page 3 and 4:
We are deeply grateful to the follo
Page 5 and 6:
iv Fanconi Anemia: Guidelines for D
Page 7 and 8:
vi Fanconi Anemia: Guidelines for D
Page 9 and 10:
8 Fanconi Anemia: Guidelines for Di
Page 11 and 12:
10 Fanconi Anemia: Guidelines for D
Page 13 and 14:
Page 15 and 16:
Page 17 and 18:
Page 19 and 20:
Page 21 and 22:
Page 23 and 24:
Page 25 and 26:
Page 27 and 28:
Page 29 and 30:
Page 31 and 32:
Page 33 and 34:
Page 35 and 36:
Page 37 and 38:
Page 39 and 40:
Page 41 and 42:
Page 43 and 44:
Page 45 and 46:
Page 47 and 48:
Page 49 and 50:
Page 51 and 52:
Page 53 and 54:
Page 55 and 56:
Page 57 and 58:
Page 59 and 60:
Page 61 and 62:
Page 63 and 64:
Page 65 and 66:
Page 67 and 68:
Page 69 and 70:
Page 71 and 72:
Page 73 and 74:
Page 75 and 76:
Page 77 and 78:
Chapter 4 Gastrointestinal, Hepatic
Page 79 and 80:
Page 81 and 82:
Page 83 and 84:
Page 85 and 86:
Page 87 and 88:
Page 89 and 90:
Page 91 and 92:
Page 93 and 94:
Page 95 and 96:
Page 97 and 98:
Page 99 and 100:
Page 101 and 102:
100 Fanconi Anemia: Guidelines for
Page 103 and 104:
Page 105 and 106:
Page 107 and 108:
Page 109 and 110:
Page 111 and 112:
Page 113 and 114:
Page 115 and 116:
Page 117 and 118:
Page 119 and 120:
Page 121 and 122:
Page 123 and 124:
Page 125 and 126: 124 Fanconi Anemia: Guidelines for
Page 135 and 136: Chapter 7 Endocrine Disorders in Fa
Page 175: 174 Fanconi Anemia: Guidelines for
Page 179 and 180: Chapter 9 Matched Sibling Donor Hem
Page 227 and 228:
Page 229 and 230:
Page 231 and 232:
Page 233 and 234:
Page 235 and 236:
Page 237 and 238:
Chapter 12 Novel Treatment Options
Page 239 and 240:
Page 241 and 242:
Page 243 and 244:
Page 245 and 246:
Page 247 and 248:
Page 249 and 250:
Page 251 and 252:
Chapter 13 Head and Neck Squamous C
Page 253 and 254:
Page 255 and 256:
Page 257 and 258:
Page 259 and 260:
Page 261 and 262:
Page 263 and 264:
Page 265 and 266:
Chapter 14 The Adult Fanconi Anemia
Page 267 and 268:
Page 269 and 270:
Page 271 and 272:
Page 273 and 274:
Page 275 and 276:
Page 277 and 278:
Page 279 and 280:
Page 281 and 282:
Page 283 and 284:
Page 285 and 286:
Page 287 and 288:
Page 289 and 290:
Page 291 and 292:
Page 293 and 294:
Page 295 and 296:
Page 297 and 298:
Page 299 and 300:
Page 301 and 302:
Page 303 and 304:
Page 305 and 306:
Page 307 and 308:
Page 309 and 310:
Page 311 and 312:
Page 313 and 314:
Page 315 and 316:
Page 317 and 318:
Page 319 and 320:
Page 321 and 322:
Page 323 and 324:
Page 325 and 326:
Page 327 and 328:
Page 329 and 330:
Page 331 and 332:
Page 333 and 334:
Page 335 and 336:
Page 337 and 338:
Page 339 and 340:
Page 341 and 342:
Page 343 and 344:
Page 345 and 346:
Page 347 and 348:
Page 349 and 350:
Page 351 and 352:
Page 353 and 354:
Page 355 and 356:
Page 357 and 358:
Page 359 and 360:
Page 361 and 362:
Page 363 and 364:
Page 365 and 366:
Page 367 and 368:
Page 369 and 370:
Page 371 and 372:
Page 373 and 374:
Page 375 and 376:
Page 377 and 378:
Page 379 and 380:
Page 381 and 382:
Page 383 and 384:
Page 385 and 386:
Page 387 and 388:
Page 389 and 390:
Page 391 and 392:
show all

guidebook. - Fanconi Anemia Research Fund

Create successful ePaper yourself

Delete template?

Save as template?