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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:

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Consultation with a multidisciplinary team

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A medical exam

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Assessment of when and how you first noticed the condition

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Scans that show what’s happening inside the body

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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:

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.

  • KTS (Klippel-Trenaunay Syndrome)

  • CLOVES syndrome (Congenital Lipomatous Overgrowth, Vascular malformations, Epidermal nevi, Scoliosis/skeletal and spinal)

  • ILM (Isolated Lymphatic Malformation)

  • MCAP or M-CM (Megalencephaly-Capillary Malformation)

  • HME (HemiMegalEncephaly)/DMEG (Dysplastic MEGalencephaly)/Focal cortical dysplasia type II

  • HHML (HemiHyperplasia-Multiple Lipomatosis)

  • FIL (Facial Infiltrating Lipomatosis)

  • FAVA (FibroAdipose Vascular Anomaly)

  • Macrodactyly

  • Muscular HH (HemiHyperplasia)

  • FAO (FibroAdipose hyperplasia or Overgrowth)

  • CLAPO syndrome (Capillary malformation of the lower lip, Lymphatic malformation of the face and neck, Asymmetry of the face and limbs, and Partial or generalized Overgrowth)

  • Epidermal nevus, benign lichenoid keratosis, or seborrheic keratosis

  • Other conditions may be identified and characterized as PROS. Talk to your doctor to find out if your condition is a PROS condition

 Learn more