A rare congenital (present at birth) vascular disorder that causes a tangled cluster of irregular blood vessels is called Parkes Weber Syndrome. However, some people may also develop port wine and one limb that is larger than the other. Furthermore, several complications of this disorder can be life-threatening. Usually, the disease can be slowed with treatment.
In other words, this condition causes a cluster of tangled blood vessels that look like a tumbleweed in diagnostic images. Thus, this blood vessel cluster makes it difficult for the blood to flow properly, which significantly reduces oxygen supply to structures and organs in the body. In most cases, Parker Weber syndrome affects only one leg. When it occurs, you may notice open sores (skin ulcers) due to a lack of oxygen on the affected leg. Usually, it is quite difficult to heal because of a lack of blood supply.
While people with this congenital disorder can experience life-threatening complications, regular monitoring can help prevent them. In general, there are multiple treatment options that help relieve the symptoms and slow down the disease progression.
Symptoms
While some people experience symptoms right after birth, others may experience their first symptoms during childhood. Pain, swelling, and extreme tiredness (fatigue) are the most common symptoms of people with Parkes Weber syndrome. Check below some signs of this congenital disorder below:
- Capillary malformations – These malformations appear as salmon-colored port wine stains with pale halos around them.
- Arteriovenous malformations (AVMs) – These tangled blood vessels can appear anywhere in the body, but mostly occur in one leg (sometimes in one arm).
- Hemihyperplasia – This condition causes noticeable differences in the size of one limb. It occurs because of more bone and soft tissue growth than in other limbs.
Additionally, this disorder is very similar to Klippel-Trenaunay syndrome, which also causes venous malformations and purple port wine stains.
Causes
The primary cause of this disorder is a mutation (change) in the RASA1 gene. This gene plays an essential role in the development of the vascular system. While you can inherit this abnormal gene from one of your biological parents, it may also occur randomly (without a family history of the disease).
What Are The Potential Complications of Parkes Weber Syndrome?
One of the most serious complications of this disorder is high-output heart failure. It causes enlarged heart muscle and pulmonary edema (fluid buildup in the lungs). Furthermore, people with Parkes Weber syndrome often develop skin ulcerations that also require medical attention. Check below for other complications of this disorder:
- Rhabdomyolysis (this is a life-threatening complication that causes muscle breakdown)
- Heart diseases
- Hypertrophy (heart muscle thickening)
- Tachycardia (abnormal high heart rate)
- Hypertension (high blood pressure)
- Limb ischemia (reduced blood flow to the limbs)
- Aneurysms (a condition that causes the artery wall to become weakened)
- Blood clots
- Varicose veins
- Infections
- Bone overgrowth
- Necrosis
- Osteolysis
- Amputation
This document does not contain all possible Parkes Weber syndrome complications. In any case, you can talk with your doctor about measures to reduce the risk of the previous complications.
How to Prevent Parkes Weber Syndrome?
Unfortunately, there is no way to prevent this disorder because healthcare professionals do not fully understand what causes genetic changes that eventually lead to this congenital disorder. However, you can do some genetic tests before pregnancy to make sure you do not have this abnormal gene. It is very important to understand the risks of having children with Parkes Weber syndrome.
Diagnosis
Usually, it is quite challenging to diagnose this condition because it occurs rarely, and some symptoms resemble other health conditions. In any case, the diagnosis begins with a physical examination to check for irregularities linked to the disease. Thereafter, doctors may ask some questions about your symptoms and family history to get more clues about the condition. However, to confirm or rule out Parkes Weber syndrome, doctors often perform the following tests. For example:
- Doppler ultrasound
- CT (computerized tomography) scans
- CT angiogram
- MRA (magnetic resonance angiogram)
- MRI (magnetic resonance imaging)
Treatment
Nowadays, there are no treatments that can cure this congenital disorder. That’s why the treatment goal is to ease the symptoms, slow down the progression of the disease, and improve your quality of life. Check below some treatments often recommended by doctors for people with Parkes Weber syndrome:
- Compressing stockings (they help reduce swelling and prevent deep vein thrombosis)
- Wound care for skin ulcerations
- Orthopedic shoe insert for one foot to make up the difference in the limb size
- Angiogenesis inhibitors (these help keep new blood vessels from forming)
- Diuretics (these medicines are used to remove excess water from the body)
- Stent to hold a blood vessel open
- Embolization of AVMs (in such cases, doctors will make a blockage inside a blood vessel)
- Endovascular ablation of AVMs (this is a minimally invasive procedure used to destroy them)
- Sclerotherapy of AVMs (this is an injection that helps close off a blood vessel)
- Surgery
- Amputation of the affected limb
Frequently Asked Questions
When should I take my child to the ER?
Immediately go to the nearest emergency room (ER) or call 911 if any of the following symptoms occur. Examples include:
- Skin breakdown or ulcers
- Chest pain
- Heart palpitations
- Dyspnea (shortness of breath)
- Dizziness
- Muscle weakness, pain, or stiffness
What is the outlook for Parkes-Weber syndrome?
Information about the prognosis of this congenital disorder is limited because it occurs quite rarely. However, one study included some people who got their first treatment in their 40s and some in their late 60s, but most people got their first treatment before age 17. Thus, in most cases, people need treatment during childhood.
What are the symptoms of Parkes-Weber syndrome?
Usually, people who develop this genetic disorder experience the following symptoms. These include a flat, port-wine stain birthmark, limb overgrowth (hypertrophy), pain, and swelling. Do not hesitate to see your child’s pediatrician if any of the previous symptoms occur. If you have additional questions, ask your healthcare provider.
