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Parkes Weber Syndrome

What is Parkes Weber syndrome?

Parkes Weber syndrome is a rare congenital vascular system disorder. The vascular system is the body’s complex network of blood vessels that consists of arteries, veins, and capillaries, and Parkes Weber syndrome is characterized by abnormalities in these parts of the body, called capillary malformations and arteriovenous fistulas, of AVFs. AVFs are abnormal connections between arteries and veins. Overall, these abnormalities increase blood flow near the surface of the skin, in turn causing a series of symptoms.

What causes Parkes Weber syndrome?

Some cases of Parkes Weber syndrome have been proven to result from mutations in the RASA1 gene, though not all cases have this mutation, and the exact function of the RASA1 gene is still largely unknown. Most cases of Parkes Weber syndrome occur in people without any family history of the condition, but if a case has been caused by a RASA1 gene mutation, then it is inherited in an autosomal dominant inheritance pattern.

What are the symptoms of Parkes Weber syndrome?

The increased blood flow near the surface of the skin appears as large, flat, pink or “port-wine” stains on the skin. If the capillary malformations occur together with more than one micro-AVF, abnormal bleeding, heart failure, and other life-threatening complications can occur. Another common symptom of Parkes Weber syndrome is overgrowth of one limb, most commonly a leg. These growths occur in bones and soft tissues and make one of the limbs longer and larger than the other one.

How is Parkes Weber syndrome diagnosed?

Parkes Weber syndrome is diagnosed using a thorough clinical examination and a detailed patient and family history review. Various laboratory tests can be done to confirm a diagnosis.

What are the available treatments for Parkes Weber syndrome?

No cure for Parkes Weber syndrome currently exists, and treatment is symptomatic. Cardiologists can treat any associated heart problems that may occur, and AVFs can be treated with surgery or with embolization. Orthopedists can treat any limb overgrowths, and dermatologists can treat the capillary birthmarks. Supportive care for individuals affected by Parkes Weber syndrome includes compression garments to reduce swelling, heal inserts to aid in walking, and pain medications, if needed.

Where can I find more information on Parkes Weber syndrome?

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