By: Larry Winger, Ph.D., PGCE & Scott Schmitz

Many of the members of The XLH Network Inc., and their children, are treated firstly with a combination of medications (active Vitamin D and phosphorus) taken by mouth, and secondly, if healing and straightening does not progress after a few years, with some form of orthopedic support (braces) or bone surgery. Treatment almost always takes place at major metropolitan research centers, because of the rare nature of this disorder, and it is certainly the strong recommendation of those in The XLH Network Inc. that specialists familiar with the condition, and well-experienced in its appropriate management, be consulted.

Medications used in treating XLH should be taken in association with regular monitoring of blood and urine chemistries. There are a variety of important effects on the kidneys which can result from these medications that specialists will want to keep under tight control.

Each individual with XLH should be under the care of a specialist familiar with this syndrome. The XLH Network Inc. is often a valuable resource for identifying specialists in the patient's geographic locale.

In the meantime, based on information many members are familiar with, having lived with this condition under current medication since the 1980s, we've arranged this page under two main headings, which you can click to go directly to the topic.

Symptoms or Effects after Treatment Begins:

Different Symptoms or Effects associated with Surgical Intervention:

Many correspondents in The XLH Network Inc. report few symptoms or side effects after treatment begins. Often the main problem is waiting for the medications to seem to be helping bone development. Progress is often measured in years, rather than months, so this can be very frustrating for parents and children alike. That's where The XLH Network Inc. can help, as we have a great deal of experience among members around the world, in what realistically to expect after treatment commences.

Symptoms or Effects after Treatment Begins:

• Phosphorus treatment can result in some diarrhea or loose stools. Newer phosphorus preparations seem to cause fewer bowel problems, and the specialist should be able to help the patient avoid troublesome gastrointestinal effects.
• Over time, treatment often results in asymptomatic deposition of calcium in the kidney, which usually does not progress. This side-effect of therapy is usually carefully monitored by annual ultrasound scans of the kidney which should be evaluated by experts.
• Children may experience different degrees of bone pain in initial stages of treatment.
• The bowing may begin to disappear after long-term treatment (1-3 years).
• Height is monitored during treatment, and sometimes a relative increase through the percentiles is noted, although this is not always the case.

Different Symptoms or Effects associated with Surgical Intervention:

• Sometimes the medications alone are ineffective in restoring normal bone growth and development, and the only option for approximating normal locomotion is to intervene surgically. There are several different sorts of surgical intervention, of which bone stapling, cortiotomies and osteotomies are examples. There are also a variety of immobilization procedures after the bone is surgically straightened. The goal is to achieve straight legs, or as normal a gait as possible. An orthopedic surgeon performing the osteotomies should have experience in dealing with XLH patients, because bone healing can differ in important ways from that experienced by otherwise normal people. An article on stapling is available to our members.
• Although surgery can be painful, modern pain-relieving medications are available, and eventually it's the tedium of being in a cast or frame or on crutches that is mostly remembered. Bone healing for XLH patients can be lengthy, taking up to twice as long as for normal bone healing and may entail being in a cast for several months.
• Often surgery results in straight legs and improvement in self-confidence, but sometimes there can be regression years later, and in these cases more surgery might be needed.
• Sometimes, if the PTH level in people with XLH is not closely monitored and treatment adjusted to keep it within normal limits, the parathyroid glands can eventually become so overactive that PTH is over-expressed regardless of the calcium level in the blood. A condition of hypercalcemia can develop as a result which can cause many problems. In this event, surgical removal of most of the parathyroid glands (which sit in the neck right beside the thyroid gland) may become necessary in order to restore normal levels and prevent further damage to bones and organs. It's imperative in this case to locate an acknowledged expert in endocrine surgery. Surgeons without enough experience in parathyroid procedures may not recognize parathyroid tissue or may not appreciate the different surgical and post-op needs of the secondary hyperparathyroidism patient.

The XLH Network Inc. is a patient support network informed by professional members and patients alike. The XLH Network Inc. does not presume to prescribe or suggest any particular treatment. These notes are provided based on the personal experience of members. It is important for any individual to be cared for by specialists in bone metabolism.

Last modified Aug 8, 2007

XLH is also known as X-Linked Hypophosphatemia (sometimes also spelled as hypophosphataemia), X-Linked Hypophosphatemic Rickets, Familial Hypophosphatemia, Vitamin D-Resistant Rickets (VDRR) Rickets and even Genetic Rickets. Its notable characteristics are bowed legs, short stature, poor teeth formation causing spotaneous dental abscesses, and low blood phosphorus levels.

© 2002-2007, The XLH Network Inc.
The authors of this web site are not medical professionals, and this information does not substitute for medical care. Information on these pages is based on biomedical research, published in peer-reviewed journals, and international research conferences. Additionally, in some cases anecdotal information is provided by subscribers of the F-HYPDRR group, a mailing list for The XLH Network Inc. A complete web-site bibliography is available. Please read our full disclaimer.