Parkes Weber Syndrome | Overview
What is Parkes Weber syndrome (PWS)?
PWS is an exceptionally rare congenital (present at birth) vascular anomaly that results in a child having a large number of abnormal blood vessels. It’s similar to the more common Klippel-Trenaunay syndrome (KTS) and is treated in much the same way.
In contrast to children who have KTS, children with PWS have arteriovenous malformations (AVM) — abnormal connections between the arteries and veins in the affected limb that can cause heart failure.
There is no cure for Parkes Weber syndrome; the most effective way to manage the condition is to treat the symptoms it causes.
No single specialist can manage PWS and its associated problems, because different interventional techniques and surgical procedures are often needed. That's why the first step in managing PWS is to have your child evaluated by members of an experienced interdisciplinary vascular anomalies team.
What are the symptoms of Parkes Weber syndrome?
Parkes Weber syndrome affects different children in different ways. One child may have a mild form with a small capillary malformation and one hand or foot slightly larger than the other. Another child may have a capillary malformation that runs from her chest down her leg, lots of swelling, heart problems, and one limb that is much larger than the other.
Some possible symptoms of PWS include:
- a flat, pink, warm birthmark called a port-wine stain, caused by a capillary malformation on your child’s skin
- frequent or recurrent bleeding, from abnormal capillaries near the surface of the skin
- cellulitis (infections in the skin)
- hypertrophy — swelling and overgrowth — of a limb (usually a leg)
- pain — often severe — in the affected limb
- heart problems from increased blood flow through an arteriovenous malformation
What causes Parkes Weber syndrome?
In many patients, PWS is caused by a mutation in a gene called RASA1. This mutation can run in families. A patient with PWS can pass this mutation on to his or her children. However, not every patient with PWS has a RASA1 mutation.
No known food, medication, or activity during pregnancy can cause PWS.
How we care for Parkes Weber syndrome
Because PWS is so rare, very few doctors have experience diagnosing and treating it. The Vascular Anomalies Center at Boston Children's has evaluated more children with PWS than any other hospital in the world. The VAC's more than 25 physicians — representing over 16 medical and surgical specialties — draw on those experiences to continually refine the therapies and achieve better long-term outcomes for children with PWS.
Parkes Weber Syndrome | Diagnosis & Treatments
How is Parkes Weber syndrome diagnosed?
Doctors can sometimes see evidence of Parkes Weber syndrome (PWS) in a prenatal ultrasound, and the capillary malformation (“port-wine stain”) is almost always apparent when your child is born.
If a child is older and you believe he has PWS, the first step to making a diagnosis is a complete medical history and a thorough physical exam. In many cases, that initial exam gives us enough information to diagnose PWS.
What tests may my child need?
If there’s any doubt, your doctor may recommend one or more of the following imaging tests, which can help determine the correct diagnosis and the appropriate next steps in treatment:
- Magnetic resonance imaging (MRI): This high-resolution scan shows the extent of the hypertrophy (overgrowth) of tissue and gives your doctor information about what problems it may be causing.
- Ultrasound (also called ultrasonography): An ultrasound helps your doctor see your child’s vascular system to examine abnormalities and determine how much blood is flowing through the AVM.
- Computerized tomography scan (also called a CT or CAT scan): A CT scan shows detailed images of the area affected by PWS and is especially helpful for evaluating the bones in the affected limb.
- Angiogram: In this study, an interventional radiologist injects a dye into your child's blood vessels, giving doctors a detailed view of the blood vessels in the affected limb.
- Echocardiogram: An echocardiogram allows your child’s doctor to check the condition of her heart.
After we complete all necessary tests, our team of vascular anomalies specialists will review and discuss what they have learned about your child's condition. Then we will meet with you and your family to discuss the results and outline the best treatment options for your child.
How is Parkes Weber syndrome treated?
Children with Parkes Weber syndrome (PWS) often need multidisciplinary care. Some specialists your doctor may recommend for your child include:
- plastic surgeon
- general surgeon
- interventional radiologist
While there is no cure for PWS, the symptoms of the condition can be managed.
- Compression garments: Your doctor may recommend that your child wear these tight-fitting items on the affected limb to reduce pain and swelling. They can also help protect your child’s limb from bumps and scrapes, which can cause bleeding.
- Heel inserts: If your child’s legs are slightly different lengths (less than one inch difference), a heel insert can help your child walk normally.
- Other medications: Your doctor may recommend various pain medications and antibiotic medications for your child.
- Surgery: Surgeons can perform what's called a debulking procedure, during which abnormal vessels and some of the overgrown tissue are removed.
- Orthopedic surgery: If PWS affects the foot or leg, sometimes the limb can become excessively large. Should that be the case, your doctor may recommend an operation. For instance, an orthopedic surgeon can reshape your child's foot if it cannot fit into a shoe.
- Epiphysiodesis: Sometimes in PWS one leg grows longer than the other. Orthopedic surgeons can estimate how long a child's leg will be when she is fully-grown. If it appears the difference will be more than an inch they may recommend a procedure called epiphysiodesis. This procedure, which is usually done when a child is between 10 and 14 years old, interrupts the leg's growth plate and stops the leg from growing when it’s reached a certain length.
- Embolization: A specialist called an interventional radiologist can inject a substance that eliminates the abnormal connections between your child’s arteries and veins.
- Laser therapy: Laser treatments can help lighten your child’s capillary malformation, and speed healing if your child’s lesion begins to bleed.
Other specialists that care for patients with Parkes Weber syndrome
Depending on your child’s symptoms and the progression of the disease, we may also bring in:
- Physical therapists — PWS can affect your child’s arm or leg, making it hard or painful for your child to move it. A physical therapist can help ease the pain and increase your child’s range of movement.
- Occupational therapists — Children with PWS sometimes get behind on developing motor skills because of physical problems related to the disease. An occupational therapist can get your child back on track.
- Counselors — As your child gets older, he or she may be uncomfortable with the capillary malformation on his or her skin. One of our counselors can help your child deal with the psychological and social issues related to having a birthmark.
Long-term outlook for children with Parkes Weber syndrome
PWS is a progressive condition, which means that it will grow as your child grows. The long-term outlook depends on a few factors:
- the extent of the disease
- the amount of hypertrophy (overgrowth) in your child’s limb or limbs
- the condition of your child’s heart
- the abnormal blood vessels’ response to therapy
- the overall health of your child
- your child's tolerance of specific medications, procedures or therapies
- new developments in treatment
Depending on the severity of your child’s PWS, your doctor may recommend a series of follow-up visits to check for complications and make sure that we’re managing the PWS effectively.
Parkes Weber Syndrome | Research & Innovation
The clinicians and scientists in the Boston Children's Hospital Vascular Anomalies Center (VAC) strive to improve the care of patients with vascular anomalies like Parkes Weber Syndrome (PWS) by understanding the biology behind them.
Battling PWS at its source
PWS is caused by errors that occur when blood and lymphatic vessels are forming.
Our investigators are probing the genes and molecules that regulate the formation and growth of blood/lymphatic vessels. We hope that understanding the genes that control these molecular events will result in new therapies for vascular malformations.
The VAC conducts research that may lead to the development of new, more effective therapies and perhaps ultimately result in ways to prevent these anomalies. The VAC has generated an extensive case database on vascular anomalies, including many cases of PWS. Using this database, we are actively evaluating the best therapies for PWS and studying long-term outcomes after PWS. As our database grows, it helps to shine more light on this rare condition.
Traditionally, debulking — a surgical procedure where many of the abnormal vessels and some of the child’s overgrown tissue is removed — has not been a standard treatment for children with PWS. However, for more than 15 years, surgeons at Boston Children's Hospital have been performing large-scale debulking procedures to help children whose overgrown legs have left them wheelchair-bound.
We have developed a team approach to performing debulking procedures. The pre-surgical preparation and post-surgical care can be critical to the success of the surgery.