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Frequently asked questions about Facial Infiltrating Lipomatosis 

FIL differs from simply just a facial asymmetry as the overgrowth is often much more prominant affecting both the soft tissue and the facial skeleton. A diagnosis of Facial Infiltrating Lipomatosis can be based solely on clinical observations, but an MRI provides the best delineation.

There is sadly no cure for FIL and there is also a very high risk of regrowth after surgical treatment. There is however a lot of hope with the medical advances being made, especially with targeted therapeutic drugs/precision medicine. The gene causing FIL is frequently involved in cancer which means that there is a substancial amount of research going into that gene and some of that research and developed drugs can be repurposed for treatment of PROS conditions.

Distinguishing between these two can be difficult and many articles use these two diagnostic names interchangeably. FIL does have hemifacial (meaning it affects half the face) hyperplasia / hypertrophy (meaning enlargement of tissue/volume of cells) but FIL can be differentiated by the infiltrating mature lipocytes (fat cells) and often progressive nature (continues to grow).

FIL can be an isolated condition or associated with other conditions on the PIK3CA-Related Overgrowth Spectrum (PROS). As a condition on a spectrum it is quite possible to fit into several of the defined entities on the spectrum, or slighlty into several.

The entities on the spectrum was defined before the genetic cause was known. Several individuals seem to more often now be receiving a diagnosis of PROS, often then exchanging the S for spectrum into syndrome.

Please don't hesitate to make contact with us and we'll try to guide you towards physcians with FIL/PROS experience.

Boston Children’s Hospitals Vascular Anomalies Center does free case reviews each week in conference meetings. They review medical history, look at photographs, radiographic images and pathology slides sent in by referring physicians or families from across the United States and around the globe. Based on this information, the team provides diagnoses and treatment recommendations, and answers specific questions posed to them by physicians and families, without the patient having to travel to Boston. Find out more about getting a free case review here.

Early eruption of teeth on the affected side is very common in FIL and so is the shedding of the first teeth, even as young as 1-2 years of age. Many also experience that the teeth are lacking or have very weak enamel. It’s important to start brushing the teeth as soon as you’re able to see them. The teeth can also be very large with abnormal root shapes. This includes both malformed roots possibly growing into the jaw or out into the pallet or underdeveloped roots. We recommend getting a CT, X-ray or OPG (panoramic dental x-ray) to get an overview of possible dental issues.

The majority of those with FIL do not develop epilepsy, but there are some who do get epileptic seizures often related to hemimegalencephaly (HME). Some start having seizures in early infancy while some get them later. There seem to be a few in our community who got their first seizures around their 2nd birthday, but this could be a coincidence. For some it could theoretically be that overgrowth of the cranial bones is causing hemimegalencephaly (overgrowth of one brain hemisphere along with malformations) which in turn could cause seizures. Hemimegalencephaly (also a condition associated with PROS) is a very rare brain condition and in mild cases it can be hard to detect from an MRI taken at a very young age.

No, not everyone with FIL have a need to use glasses, but many do. The most common issues are astigmatism and amplyopia on the eye on the affected side. Getting glasses that fit can be an issue, but there are frames available that can be adjusted enough, like titanium frames.

Gaining a confirmed mutation will ensure that you’re getting the proper healthcare management.
Whether you are actively seeking to start drug treatment or on the fence about it, getting a confirmed mutation will allow you to be able to apply for targeted treatment options and/or participate in clinical trials when and if you choose to do so. Bear in mind that the process of receiving a confirmed mutation could take some time. Finding a doctor willing to do the proper testing, dealing with insurance and also the actuall extraction of DNA from the sample and sequencing does take some time. Read more about genetic testing here and the article "Genetic testing; How & Why" in our oct 2020 Newsletter.

Since the mutation is mosaic, meaning that the mutation does not exist in every cell, a negative result does not necessarily rule out a clinical diagnosis of FIL. Also if the genetic test was made on the basis of a blood sample you would usually not find the mutation. Testing should be done on affected tissue using the correct testing method. Please read more in the genetic section on our About FIL page.

There a few types of nevi, benign lichenoid and seborrheic keratosis that are assosiated with PROS. Several patients with FIL have spots of skin on their affected side that is also affected by PIK3CA mutation and some also have patches of thicker, darker and curly hair on the affected side as well.

These situations can be very tough. How you as a parent handle them can sometimes model how your child will react in the future.
A great resource we've found are some self-help pages made by the UK based organization Changing Faces. There you can find advice on coping with other peoples reactions whether you yourself have FIL or you’re a caregiver of someone with FIL.

A narrow ear canal that are more proned to get infections is common in FIL. This can also lead to conductive hearing loss. We recommend using earplugs while swimming.

The WonderFIL smiles website is always kept updated on the latest developements in available drug treatments and clinical trials (upon eligibility). You can read more here (for PROS patients here). You can also sign up to our mailinglist to receive the latest news about FIL/PROS.

By joining the PROS Program at AllStripes you can make a difference for affected by FIL and other PROS associated conditions. Read more here.
WonderFIL smiles is run completely on a voluntary basis so 100% of received donations goes directly towards research. You can make a difference by making a direct donation securely through PayPal, selecting WonderFIL smiles for your next fundraiser on Facebook or by supporting our shirt fundraiser on Bonfire by shopping and/or sharing.

In addition to our website, that’s always kept updated with the latest news and devolpements, you can follow our social media accounts, Facebook, Instagram and Twitter. We have a private group on Facebook solely for those affected by FIL and/or their parents/partners.
Sign up to our mailinglist to get updates and our newsletter straight to your inbox.

The pharmaceutical company Novartis have created a PROS site called understandingPROS which you can find here. To read more about the other conditions on the spectrum and to visit other organizations websites for other PROS conditions you can find an overview here.

Do you have a question about FIL or PROS that you can't find the answer to here, please don't hesitate to contact us at info@wonderFILsmiles.com 

This website is intended to connect families and people with Facial Infiltrating Lipomatosis (FIL), share experiences, provide information and support.

It is not intended for medical diagnostic use or to replace medical consultation. No images on this website may be used or reproduced.  

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