Tag Archives: research

Treating Perthes Disease

Also known as Legg-Calvé-Perthes disease, Perthes disease is a childhood disorder of the hip. The disease affects the ball portion of the hip joint, known as the femoral head. Perthes is uncommon— approximately 5 to 10 children per 100,000 will be diagnosed — and it more commonly affects boys -1 in 760 boys. Here are some interesting facts about this pediatric hip disorder.

What Happens to the Hips in Perthes Disease

In a normal hip joint, the round head of your femur fits into the round socket in the pelvis. Perthes disease interrupts the blood flow to the femoral head, causing all or part of it to die due to lack of blood. The bone death is medically referred to as osteonecrosis.

Once the bone dies, the femoral head is more prone to breakage and heals poorly. As a result, the pressure and weight on the bone from normal rigorous activities can cause the round portion to become flat over few months to a year after the diagnosis. For one to two years after bone death occurs, new bone gradually begins to fill in the areas where the body has removed away the dead bone.

The Cause of Perthes Is Still Unknown

Screen Shot 2016-02-05 at 1.12.53 PMWhile we know what happens to the hip to alter the shape of the femoral head, we still don’t know what causes the precipitating interruption of blood flow. We also know that Perthes is not heritable, since less than five percent of its patients have a family history of the disease. However, some other heritable hip conditions or blood disorder can mimic Perthes, such as multiple epiphyseal dysplasia and sickle cell disease. History of taking corticosteroid for treatment of asthma, inflammatory conditions, or cancer can also produce bone necrosis that mimics Perthes.

Diagnosing Perthes Disease

Because so many other diseases can mimic the symptoms of Perthes, it is known as a disease of exclusion. Doctors will rule out other conditions by taking a careful look at medical history and performing a physical exam. The physician will typically ask about the following diseases to rule them out:

  • Family history of hip disorders or early joint replacement
  • Steroid use, such as for asthma
  • Prior hip surgeries
  • History of sickle cell disease
  • History of hip infection
  • History of endocrine or clotting disorders

To confirm a potential Perthes diagnosis, doctors will perform an X-ray of the hips. If the X-ray is taken too soon after symptoms have begun, it may appear normal. In that case, physicians can order a very sensitive diagnostic test called perfusion MRI if they still suspect Perthes.

Treatments and Complications

The body will naturally remove and replace the dead bone of the femoral head with new bone, so, to some extent, Perthes heals itself. However, the healing process may be slow and even after healing has taken place, the femoral head may not return to its original round shape. When that fails to happen, patients may experience long-term complications, such as pain, stiffness and a greater risk of arthritis later in life.

Screen Shot 2016-02-05 at 1.24.29 PMUntil the healing phase is complete, non-surgical treatments might include crutches, wheelchairs, casting and/or bracing, and reduced physical activity. Surgical treatments might include pelvic or femoral osteotomy, a process that reshapes the pelvis or femur.

While Perthes is in some ways self-healing, femoral heads sometimes don’t heal properly. With the interventions we have today and new treatment knowledge about the condition, those with Perthes can usually return to daily activities and sports activities without problems.

For more information about Perthes Disease and becoming a patient at TSRHC, visit the hip disorders section on our website.

Learn about our Center for Pediatric Bone Biology and Translational Research

A core mission of Texas Scottish Rite Hospital for Children is to conduct research that improves the care of children. Since 1921, the hospital has developed a deep reservoir of medical history, renowned expertise in treating pediatric orthopedic disorders, and a robust research program that fosters a strong collaboration between clinic and laboratory. Through patient-centered research, our scientists strive to define the fundamental cause of pediatric orthopedic disorders.

Watch this video to learn more about our Center for Pediatric Bone Biology and Translational Research.

Genetic Mutation That Causes Childhood Bone Disorder Discovered

Texas Scottish Rite Hospital and two other medical institutions publish groundbreaking study

Researchers at Texas Scottish Rite Hospital for Children (TSRHC) and two other medical institutions have discovered the genetic mutations that cause osteofibrous dysplasia, a disorder that is marked by lesions, usually in the bones of the lower leg such as the tibia and fibula. The condition adversely affects the growth and strength of those bones in children.

The discovery was made possible after researchers learned of multiple generations of four families that had suffered from the disease. The study was published Thursday in The American Journal of Human Genetics.

The research by TSRHC, New Zealand’s Dunedin School of Medicine and The Hospital for Sick Kids in Toronto built on earlier work by TSRHC’s Dr. Lori Karol, who published a paper in 2005 in The Journal of Bone and Joint Surgery establishing a genetic link to osteofibrous dysplasia. However, the causal genetic mutation was not identified at the time.

Dr. Karol based her research on a Texarkana patient. It turned out there was family history, which was unusual because osteofibrous dysplasia was not thought to be genetic. In fact, physicians at TSRHC had treated two previous generations of the family in the 1950s and ’70s.

The researchers in New Zealand and Canada contacted Dr. Karol about similar patient families in their practices, and the three groups subsequently teamed up to study the gene further.

Dr. Carol Wise, director of basic research, led the efforts at TSRHC that discovered the causal gene in the Texarkana family. Dr. Wise was joined in the study by TSRHC’s Dr. Karl Rathjen and hospital scientists Drs. Swarkar Sharma, Jonathan Rios, Nandina Paria and Dongping Zhang.

Research - Genetics 2015_13They discovered a mutation in the MET gene, which has been studied extensively and is implicated in non-inherited cancerous tumors later in life. However, its role in controlling the growth and development of long bones such as the tibia and fibula was not appreciated until now.

“This discovery brings fundamental new insight into our understanding of how certain bones grow and develop in children. It may also provide new avenues for targeted therapies to improve bone growth or repair,” Dr. Wise said.

The work performed at Texas Scottish Rite Hospital for Children was funded by the G.O.O.D. for Kids program, the Pediatric Orthopedic Society of North America and the National Institutes of Health. Drs. Wise, Rios, Karol and Rathjen are faculty members at the University of Texas Southwestern Medical Center in the departments of Orthopaedic Surgery (Wise, Rios, Karol, Rathjen) and Pediatrics (Wise, Rios) and in the McDermott Center for Human Growth and Development (Wise, Rios).

TSRHC Leads the Charge on Perthes Disease Research

While TSRHC is known across the globe for its excellence in pediatric orthopaedics, it is also recognized for groundbreaking research. The studies TSRHC staff participate in allow physicians worldwide to better understand various orthopaedic conditions.

One particular research study focuses on Legg-Calve-Perthes Disease (LCPD), a condition that affects the femoral head or the “ball” part of the hip joint. In Perthes Disease, the blood supply to the femoral head is disrupted and all or part of the femoral head dies from the lack of blood flow.

A History of Research

Twenty years ago, Tony Herring, M.D., started a large, prospective multi-center study with the purpose of understanding the outcomes of pediatric patients with Perthes Disease. Participating institutions treated patients with five different methods: non-surgical treatment, which included bracing and physical therapy; surgical treatment, which included femoral or pelvic osteotomy; and observation. Herring and his colleagues published their findings in the 2004 Journal of Bone and Joint Surgery.

Herring, along with Dan Sucato, M.D., M.S., led the efforts to invite the patients from the study who were treated non-operatively back to TSRHC for a clinical, radiographic and functional evaluation.

“The results of this study gave us the unique opportunity to review the long-term outcomes of patients who were treated with non-operative intervention. We found that the majority of these patients complained of increasing pain and dysfunction. This was the first study to document these findings at 20-year follow-up,” said Sucato. These results were published last year in The Journal of Bone and Joint Surgery.

Sucato was recently awarded the Angela Kuo Memorial Award, a $30,000 grant, from the Pediatric Orthopaedic Society of North America (POSNA) at the 2013 POSNA Annual Meeting. This grant will be used to fund the third part of this study, which will review the clinical, functional and radiographic outcomes of patients originally treated with surgery. At this time, 18 patients from across the nation have participated in the follow-up study.

Follow-up Study for the Future

One of these patients, Jaclyn Davidson, age 30, recently visited TSRHC for an evaluation with Sucato and Harry Kim, M.D., M.S. Davidson was originally treated with pelvic surgery when she was 7 years old.

“Having the opportunity to evaluate patients like Ms. Davidson after 20 years of follow-up allows us to keep learning about the long-term effects of treatment patterns for Perthes Disease. We are grateful for their time and efforts. The results of this data will help us improve treatments for our current patients with Perthes Disease,” Sucato noted.

As the study moves forward, TSRHC staff will continue to learn more about the condition and how to better treat patients who are affected by it.

To learn more about the disease and the multicenter study research for current patients with Perthes Disease happening at TSRHC, please visit: www.perthesdisease.org.