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273 274 275 <!-- Content Begin --> 276 <main id="main-content"> 277 <div class="banner static-banner"> 278 <div class="container content-wrapper pr-sm-16p"> 279 <div class="row"> 280 <div class="col-md-7 pr-2 pr-sm-0 p-adjust"> 281 <p class="text-uppercase subheading">GETTING AN XLH DIAGNOSIS</p> 282 <h1 class="text-uppercase">How XLH is diagnosed</h1> 283 </div> 284 </div> 285 </div> 286 </div> 287 288 <div class="section-nav"> 289 <nav class="navigation" aria-label="section navigation"> 290 <div class="section-nav-menu"> 291 <div class="container"> 292 <div class="section-nav-menu-items"> 293 <div class="section-logo-sm"> 294 <span></span> 295 </div> 296 297 <a href="javascript:void(0)" class="section-navigation-toggle" aria-label="Open section navigation"> 298 <i class="icon-down-arrow"></i> 299 </a> 300 </div> 301 </div> 302 </div> 303 <div class="section-nav-menu-list"> 304 <div class="container"> 305 <ul class="section-navigation-list navigation-list"> 306 <li class="current"> 307 <a href="#why-its-important" class="text-link" data-event="submenu_click" data-interaction-type="Navigation Interaction" data-position="Header Placement" data-menu-header="Why It's important" data-menu-text="Why It's important" data-click-url="https://www.xlhlink.com/diagnosis-of-xlh/#why-its-important">Why it's important</a> 308 </li> 309 <li class=""> 310 <a href="#how-doctors-diagnose-xlh" class="text-link" data-event="submenu_click" data-interaction-type="Navigation Interaction" data-position="Header Placement" data-menu-header="How doctors diagnose XLH" data-menu-text="How doctors diagnose XLH" data-click-url="https://www.xlhlink.com/diagnosis-of-xlh/#how-doctors-diagnose-xlh">How doctors diagnose XLH</a> 311 </li> 312 <li class=""> 313 <a href="#doctors-who-can-help" class="text-link" data-event="submenu_click" data-interaction-type="Navigation Interaction" data-position="Header Placement" data-menu-header="Doctors who can help" data-menu-text="Doctors who can help" data-click-url="https://www.xlhlink.com/diagnosis-of-xlh/#doctors-who-can-help">Doctors who can help</a> 314 </li> 315 <!-- <li class="show-sm font-14">COMM-US-RDS-0999 August 2026</li> --> 316 </ul> 317 </div> 318 </div> 319 </nav> 320 </div> 321 322 <section class="bg-white" id="why-its-important"> 323 <div class="container bg-white-container"> 324 <div class="bg-white-content"> 325 <p class="h3 text-uppercase">early and accurate diagnosis is important</p> 326 <p class="text">X-linked hypophosphatemia (XLH) is often diagnosed in childhood, but some people are not diagnosed until theyâre adults because symptoms can vary.</p> 327 <p>Because XLH can worsen over time, itâs important to diagnose it early and start managing the condition sooner. You know yourself or your child bestâif something doesnât feel right, trust your instincts and talk to a healthcare professional.</p> 328 </div> 329 <div class="bg-white-content-img"> 330 <picture> 331 <source media="(max-width:768px)" srcset="/images/home/png/sm/[email protected] 2x, /images/home/png/sm/[email protected] 3x, /images/home/png/sm/Karabetha-and-mother.png"> 332 <img width="100%" srcset="/images/home/png/lg/[email protected] 2x, /images/home/png/lg/[email protected] 3x" src="/images/home/png/lg/Karabetha-and-mother.png" alt="Karabeth, who is living with XLH, sitting down while her mother JoBeth stands behind her with a hand on her shoulder"> 333 </picture> 334 <div class="footnote text-right"> 335 <p class="bold mb-8p">Karabeth and her mother, JoBeth</p> 336 <p class="footnote-fs mb-16p mb-sm-0">Karabeth is living with XLH</p> 337 </div> 338 </div> 339 </div> 340 </section> 341 342 <section class="green-component"> 343 <div class="container green-component-container"> 344 <p class="h4">Family history can help confirm a diagnosis</p> 345 <div class="green-component-content"> 346 <p>Knowledge of your family's health can help your care team diagnose, treat, and manage XLH. You can start by building your family tree.</p> 347 <a href="/xlh-family-tree/" class="btn btn-rounded btn-secondary minw-275 mx-auto" data-event="cta_click" data-interaction-type="CTA Interaction" data-click-text="Build your family tree" data-cta-header="Family history can help confirm a diagnosis" data-click-url="https://www.xlhlink.com/xlh-family-tree/">Build your family tree</a> 348 </div> 349 </div> 350 </section> 351 352 <section class="teal-banner"> 353 <div class="container teal-banner-container"> 354 <picture> 355 <source media="(max-width:768px)" srcset="/images/diagnosis-of-xlh/png/sm/[email protected] 2x, /images/diagnosis-of-xlh/png/sm/[email protected] 3x, /images/diagnosis-of-xlh/png/sm/emily.png"> 356 <img width="100%" srcset="/images/diagnosis-of-xlh/png/lg/[email protected] 2x, /images/diagnosis-of-xlh/png/lg/[email protected] 3x" src="/images/diagnosis-of-xlh/png/lg/emily.png" alt="Emily, mother to Isla, sharing her experience with XLH"> 357 </picture> 358 <div class="teal-banner-content"> 359 <img src="/images/diagnosis-of-xlh/svg/quote.svg" alt=""> 360 <p class="text">Just knowing that there was an answer and a reason why was probably the best part of learning my diagnosis.</p> 361 <p><em><strong>Emily, mother to Isla,</strong> <span>both living with XLH</span></em></p> 362 </div> 363 </div> 364 </section> 365 366 <section class="gray-bg" id="how-doctors-diagnose-xlh"> 367 <div class="container gray-bg-container"> 368 <p class="h3 text-uppercase">How doctors may diagnose xlh</p> 369 <div class="gray-bg-content"> 370 <p class="h4">Doctors use different ways to diagnose XLH, including:</p> 371 <div class="green-icons-container"> 372 <div> 373 <img src="/images/diagnosis-of-xlh/svg/checklist.svg" alt="A checklist"> 374 <p>Reviewing your symptoms</p> 375 </div> 376 <div> 377 <img src="/images/diagnosis-of-xlh/svg/xray.svg" alt="An X-ray image"> 378 <p>X-rays</p> 379 </div> 380 </div> 381 <div class="green-icons-container"> 382 <div> 383 <img src="/images/diagnosis-of-xlh/svg/phosphate-tests.svg" alt="Phosphate testing"> 384 <p>
384Blood tests to check phosphorus levels</p> 385 </div> 386 <div> 387 <img src="/images/diagnosis-of-xlh/svg/single-genetic-mutation.svg" alt="DNA chromosomes"> 388 <p>Genetic testing</p> 389 </div> 390 </div> 391 <p>Keep in mind that testing for XLH involves several steps. You may need to see more than one doctor to get an accurate diagnosis.</p> 392 <div class="info-banner"> 393 <div class="banner-icon"> 394 <img src="/images/what-is-xlh/svg/DYK_LockUp.svg" alt="Did you know?"/> 395 </div> 396 <div class="banner-info"> 397 <p>A genetic counselor can be an important part of your XLH care team. They can educate you about genetic testing, help identify family members who may have XLH, and provide support after a genetic diagnosis.</p> 398 </div> 399 </div> 400 </div> 401 </div> 402 </section> 403 404 <section class="blue-bg" id="doctors-who-can-help"> 405 <div class="container blue-bg-container"> 406 <p class="h3 text-uppercase">specialists who can help</p> 407 <p>Because XLH is rare, it helps to see a doctor who understands it. You may need to see specialists, along with your primary care provider, to help manage your condition.</p> 408 <div class="white-box-container"> 409 <p class="h4">Types of specialists who can diagnose and manage XLH:</p> 410 <div class="blue-icons-container"> 411 <div> 412 <img src="/images/diagnosis-of-xlh/svg/rheumatologists.svg" alt="Two bones attached at a joint"> 413 <div class="text-container"> 414 <p>Rheumatologists</p> 415 <p class="subtext">Care for joints, muscles, and connective tissue</p> 416 </div> 417 </div> 418 <div> 419 <img src="/images/diagnosis-of-xlh/svg/endocrinologists.svg" alt="Molecules connecting in a circular network pattern"> 420 <div class="text-container"> 421 <p>Endocrinologists</p> 422 <p class="subtext">Treat issues with hormones, like FGF23</p> 423 </div> 424 </div> 425 </div> 426 <div class="blue-icons-container"> 427 <div> 428 <img src="/images/diagnosis-of-xlh/svg/nephrologist.svg" alt="The kidneys"> 429 <div class="text-container"> 430 <p>Nephrologists</p> 431 <p class="subtext">Monitor and manage kidney function</p> 432 </div> 433 </div> 434 <div> 435 <img src="/images/diagnosis-of-xlh/svg/genetic_mutation.svg" alt="Two DNA chromosomes"> 436 <div class="text-container"> 437 <p>Geneticists</p> 438 <p class="subtext">Diagnose and address genetic conditions</p> 439 </div> 440 </div> 441 </div> 442 <div class="blue-small-box"> 443 <p>Looking for a doctor who specializes in XLH?</p> 444 <a href="/xlh-specialist-near-me" class="btn btn-secondary btn-rounded minw-214" data-event="cta_find_specialist" data-interaction-type="CTA Interaction" data-click-text="Find a specialist" data-cta-header="Find a specialist" data-click-url="https://www.xlhlink.com/xlh-specialist-near-me/">Find a specialist</a> 445 </div> 446 </div> 447 </div> 448 </section> 449 450 <section class="resource-card-section" id="resource-card"> 451 <div class="container"> 452 <div class="resource-cards"> 453 <div class="resource-card"> 454 <div class="resource-card-icon"> 455 <img src="/images/diagnosis-of-xlh/svg/doctor-visits.svg" alt="Doctor and patient having a discussion together" /> 456 </div> 457 <p class="resource-card-title">Download the Doctor Discussion Guide</p> 458 <div class="resource-card-actions resource-card-actions-center"> 459 <a href="/assets/pdf/xlh-doctor-discussion-guide-patients.pdf" class="btn btn-rounded btn-download" target="_blank" data-event="file_download" data-interaction-type="File Download" data-file-name="xlh-doctor-discussion-guide-patients" data-file-type="pdf" data-file-size="729" data-link-url="https://www.xlhlink.com/assets/pdf/xlh-doctor-discussion-guide-patients.pdf" aria-label=""><span class="btn-text">for patients</span> <span class="download-icon"></span></a> 460 <a href="/assets/pdf/xlh-doctor-discussion-guide-caregivers.pdf" class="btn btn-rounded btn-download" target="_blank" data-event="file_download" data-interaction-type="File Download" data-file-name="xlh-doctor-discussion-guide-caregivers" data-file-type="pdf" data-file-size="914" data-link-url="https://www.xlhlink.com/assets/pdf/xlh-doctor-discussion-guide-caregivers.pdf" aria-label="for Caregivers doctor discussion guide pdf link"><span class="btn-text">for Caregivers</span> <span class="download-icon"></span></a> 461 </div> 462 </div> 463 <div class="resource-card"> 464 <div class="resource-card-icon"> 465 <img src="/images/what-is-xlh/svg/office-support.svg" alt="Conversation" /> 466 </div> 467 <p class="resource-card-title">Don't navigate XLH alone</p> 468 <div class="resource-card-actions resource-card-actions-center"> 469 <a href="/xlh-guide-connect/" class="btn btn-rounded btn-full-width" data-event="cta_click" data-interaction-type="CTA Interaction" data-click-text="Talk with an XLH guide" data-cta-header="Don't navigate XLH alone" data-click-url="https://www.xlhlink.com/xlh-guide-connect/">
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Line numbers count LF bytes from the start of the resource, as the search results do. Vendor segments are library code the classifier recognised; they are stored but not indexed. Bytes are shown as Latin1 characters, one per byte.