What is Desmoid Fibromatosis?

We do not know what causes DF for about 90% of people and they are described as sporadic DF, meaning they occur when there is no history of anyone else in the family line having had DF.

There is a small number of people (5-10%) with DF who have a condition called Familial Adenomatous Polyposis (FAP) and Gardner Syndrome. This is a rare condition that can run in families. People affected by FAP may be diagnosed with DF following routine tests and scans to investigate the progression of their condition, such as a colonoscopy and often many polyps are seen in their bowel. Usually, their DF will be in the abdomen and treatment will be different to those who do not have FAP.

People usually are seen by their GP first who can examine the lump and then arrange an ultrasound test. An ultrasound is a useful first test when looking at soft tissue lumps. An MRI or CT scan can also be helpful. A biopsy, using a special needle that takes core samples from the middle of the lump is taken under a local anaesthetic. The biopsy is looked at by a pathologist under a microscope, it is the biopsy result that gives the diagnosis of DF.

People with DF need the expertise of soft tissue experts and in the UK this means people need to be referred to Sarcoma Units. Sarcoma is a rare form of cancer that effects the connective tissue and so these teams have the skills and knowledge to also look after DF patients, DF is not a cancer. It is written in NHS England service specification that people with DF should be discussed in Sarcoma multi-disciplinary team meetings (MDT) and you can ask your local consultant or GP to refer you if you are not already under a sarcoma specialist service. Sarcoma UK support line can help guide you with this.

A multidisciplinary team (MDT) is a team of healthcare professionals that will work with each other and with you to plan the treatment that is best for you. The MDT usually includes a Pathologist (who reviews the biopsy), Radiologist (who reviews the scans) and then doctors, specialist nurses and physios. MDT’s ensure that a persons care is discussed fully and many different opinions are sought before a plan for treatment is made.

For people with a desmoid tumour the Sarcoma MDT’s also cover the care of desmoid patients because they have the expertise of helping people with tumours of the soft tissues and will be based at a Sarcoma Specialist Centre.

Active surveillance is usually the first approach to treat people who are newly diagnosed with DF. This is sometimes known as a ‘watch and wait’ policy, ‘active monitoring’ or ‘active observation’. It means that the DF is monitored by the medical team at 3 monthly intervals for usually the first 2 years.

You may be on active surveillance for a shorter or longer time depending on your individual circumstances. If your condition stabilises or regresses, active surveillance will continue. If your condition progresses, then other treatment options will be considered for you.

We know that people find active surveillance difficult to understand and would rather just have their lump operated on and removed as soon as it is diagnosed. However, work done internationally bringing doctors together that care for people with DF has recommended that active surveillance is key to understanding the nature of someone’s DF. We know that for some people having surgery can exacerbate the tumour process and if removed it can be more aggressive when it returns, we know for others that if you don’t have any treatment, it can get smaller.

There are useful treatments for DF that can help manage the symptoms of the disease, or make the DF dormant and less active. They come with some side effects so balancing the use of them is important. It is important to use them only if the symptoms are impacting your quality of life..

Treatment Information