Diagnosis & Current Management

Diagnosis &
Current
Management

Understanding your PROS diagnosis and its cause can help you and your doctor create a care plan

It is important to know if a PIK3CA mutation is the cause of your abnormal growth, vascular condition, or lymphatic condition.

Knowing its cause can give doctors a more complete picture of the condition and help them make decisions about tests, follow-up procedures, and management that may be part of your care plan. Need help finding a diagnosis? These resources could help.

PROS may have features that are similar to other conditions (such as Proteus syndrome; capillary malformation-arteriovenous malformation, or CM-AVM, syndrome; Parkes Weber syndrome; Sturge-Weber syndrome; neurofibromatosis; or primary lymphedema), so a diagnosis may not be obvious right away.

 

Several steps may be needed to diagnose PROS. These could include:

Consultation with a multidisciplinary team
A medical exam
Assessment of when and how you first noticed the condition
Scans that show what’s happening inside the body
Lab tests to find out if there is a PIK3CA mutation

 

The journey to receiving a diagnosis is different for everyone. To hear a range of experiences from families affected by PROS, click here.

 

Management of PROS is limited and may be based on symptoms rather than its root cause—PIK3CA mutations

The way your doctor manages your PIK3CA-Related Overgrowth Spectrum, or PROS, symptoms can vary depending on which PROS condition you have been diagnosed with and how it presents (appears) in your body. You will work with your health care team to determine which approach makes sense to you based on your symptoms and goals. You may need the care of a multidisciplinary team to manage all symptoms and potential complications.

 

Current management can include:

Surgery: If you have overgrowth that requires intervention, your doctor may decide that surgery is needed. Surgery involves removing areas of overgrowth. When a person has this type of debulking surgery, the lesions may come back in the same area, and the procedure may need to be repeated

Interventional radiology: If you have vascular malformations, your doctor may use interventional radiology, which involves obtaining images and using different techniques to cut off blood flow from blood vessels and surrounding body tissues so that affected cells die

Monitoring: You and your doctor may decide that the most appropriate management of your current symptoms is careful monitoring. This means that you and your doctor carefully watch to see how your symptoms change

Compression and elevation: Vascular issues, such as bleeding, venous insufficiency, and lymphedema (accumulation of lymph/lymphatic fluid), can be managed with applied pressure and the raising of limbs to help reduce inflammation and swelling

The risks and benefits of these approaches need to be considered for each person to help him/her decide, with their doctor, if these are options. Researchers are investigating potential treatment options that may address the common cause of PROS, PIK3CA mutations.