Lipomas, Dercums, Adiposa Dolorosa

I know a lot of people with lipoedema complain about this and find it extremely difficult to get a referral to an appropriate Consultant. My own GP really didn't want to refer me ( I wasn't grossly overweight but I had the typical weight distribution for lipoedema and it was worsening).
It is also difficult to know what new weight gain might possibly be related to if one has several conditions or has has had to stop exercising.

eta: first para expanded

 

Well, 30 years after starting to accumulate the painful lipomas that my grandmother and aunt had, and 10 years after developing painful fat on my legs, I finally decided to broach it with a doctor yesterday. Mainly because I need some proper compression garments to help me sleep, rather than risking doing more harm than good with my home-made solutions.

Requested a phone appointment with my GP via the online service, who called me an hour later. She asked me to submit photos via their secure service, which I did.

Today, less than 24 hours after speaking to the GP, the regional lymphoedema clinic called me to ask if I would be okay with a video consultation in the first instance. They wanted to clarify a couple of things; I explained that I'm as sure as I can be that it's not lymphoedema, but it could possibly be lipoedema, Dercum's, or both. That seemed to be fine, and she said she'd call me as soon as she could work out which clinician I should speak to.

I'd seriously expected to wait months before even hearing back from them, especially as it's obvious from the photos that it's not an advanced case!

 

I'm very pleased for you @Kitty. What a quick response. I hope that you get well fitting compression that are manageable to use. Would be interested to hear how you get on.

I have an appointment for compression and a doctor consultation in April. No idea if it will be f to f or video. Compression measurement would be impossible by video I think since it ( ie me) is done with legs outstretched on a bed and about 15 measurements being taken on each leg. It takes a fair time.

Unfortunately I am finding it increasingly hard to put on compression because of arthritis in the base of my thumb- pulling them up makes the degeneration much worse. ( Geneticist told me that early onset arthritis is a feature of h(EDS) but I don't know if you're one of that group.)

Also I didn't think I had lymphoedema initially but a lymphoscintigraph showed it was severe and I was given a diagnosis of primary lymphoedema and lipoedema.

Good luck anyway.

 

Hopefully that will go well. I can't see them doing it by video, really!

I'll probably struggle too if prescribed, as I have severe psoriatic arthritis in my hands and numerous joints are completely fused. But I'll cross that bridge later; to begin with I'm hoping just to get a diagnosis, so that I know what I'm dealing with!

 

Had my F2F appointment today. I do appear to have lipoedema, but possibly not Dercum's, which is interesting.

Some of my lipomas join up to form rafts, and this apparently may just be a feature of lipoedema. There are a couple of areas I get lipomas that aren't typical of lipoedema, but it could be another form of familial lipomatosis.

If they are down to lipoedema, I've had it much longer than I thought. I started getting individual lipomas decades ago, whereas the odd pattern of fat distribution didn't show up until the menopause.

Quite cheering to hear that there's no sign of oedema or peripheral artery disease in my feet, though, and that lipoedema isn't inevitably progressive. The consultant explained that yo-yo weight swings seem to aggravate the condition in some women, and the fact I've never been overweight enough to need dieting might be why there hasn't been much change in all the years since the extra fat first appeared.

The visit really reminded me how supportive clinics can be for long-term conditions with few treatment options, if you assemble a small group of clinicians who're genuinely interested. Listening to people and acknowledging their conditions are hard to live with makes such a difference, as does having a nurse who clearly reads everything he can on the subject, asks perceptive questions, and makes copious notes. If people like that were running ME clinics, we might eventually see some progress!

 

I came across the following. Liposuction for chronic lipoedema is being considered by NICE. It is not something I have been following but there is a link below to register an interest.

1. Home
   
2. NICE Guidance
   
3. In development

Liposuction for chronic lipoedema
In development [GID-IPG10190] Expected publication date: TBC

Register an interest

 

@Kitty @Binkie4. Can I ask where in the uk your medical teams are located? My GP and I are getting nowhere.
But I did find this as part of my genomics quest being mitochondria and lipoma related which the genomic specialists at GOSH seemed to be unaware.

MT-TK - multiple Lipoma - mitochondrial fatigue. Listed as Green – high evidence.



https://panelapp.genomicsengland.co.uk/panels/302/gene/MT-TK/#!details



https://panelapp.genomicsengland.co.uk/panels/19/

also there has been a stage 2 trial successfully completed with a stage 3 planned for q1 2022 in which I could be a participant. Trip to the US maybe a bit of an ask these days for me, but with no treatment in the uk …. Raziel who have just completed the stage 2 trial https://clinicaltrials.gov/ct2/show/record/NCT04229030

 

@yME
I see Professor Mortimer and team at St.George's Hospital in south west London. Once diagnosed, there seems to be little treatment apart from compression garments, which involves being measured twice a year and fitted for compression.

https://www.lipoedema.co.uk/membership/. I don't know if you've come across Lipoedema UK, a fairly new organisation containing news about the illness. I believe they have written a CPD module for training GPs who are currently woefully uninformed.

 

@yME, I saw Prof Vaughan Keeley at his clinic in Long Eaton, which is near Nottingham. This clinic does see people from out of area, and will accept direct referrals from a GP. (I don't think this is the case at St Thomas's.)

As @Binkie4 says, there is no treatment for lipoedema unless you also have lymphoedema to a degree that requires intervention. I did get some really useful information and advice, however, and it's a relief to have a diagnosis. Usual practice is discharge patients with uncomplicated lipoedema after diagnosis, with an invitation to return if there are significant changes. I was really impressed with the speed of the referral, the interest and commitment of the team I saw, and the quality and clarity of the information.

It's perhaps also important to say that I know it's a poorly understood condition and I wasn't expecting treatment. At least part of the reason for wanting a diagnosis is that my case shows up in the statistics, as until the prevalence and impact on women's lives is better known, there will be no progress on understanding or treating it.

 

Research on lipoedema is getting closer to finding a genetic link. The following was published in PLOS ONE, and funded by an American Charity- the Lipoedema Foundation. The research ream pinpointed three places in the genome, all on the same chromosome, which seem to be associated with lipoedema.

Published: 22 November 2022

"A group of St George’s researchers has begun to uncover the genetic basis of an often-overlooked condition affecting an unknown number of women around the world.

Lipoedema could affect up to 10% of women but so little is known about the condition that the number of people who live with it hasn’t been determined, and there are no curative treatments.

People with lipoedema – who are usually women – have abnormal amounts of fat tissue deposited under the skin, usually in the legs, causing pain, tenderness and easily-bruised skin. They tend to have a disproportionate body shape, with a much larger lower body than torso, and are reported to have a poorer quality of life than average.

People find it hard to get a diagnosis, and are often misdiagnosed with other conditions such as fibromyalgia, which causes widespread pain throughout the body, or lymphoedema, which is the swelling of body tissues, usually the limbs, due to problems with the lymphatic system.

No one knows how many people the disease affects, with estimates ranging from 10-11% to 1 in 72,000.

“Lipoedema is really poorly understood,” says Dr Kristiana Gordon, Consultant in Dermatology and Lympho-vascular Medicine at St George's Hospital. “There is often a family history of the disease, and we think it is caused by a complex mix of genetics and the environment rather than the simple presence of a defect in a single gene. With funding from the Lipedema Foundation, an American charity, we’ve been able to start the process of unravelling the genetics underlying the disease.”

The study, which was published in PLOS ONE, recruited 200 women with lipoedema through two specialist clinics, one at St George’s University Hospital NHS Trust and one at the University Hospitals of Derby and Burton NHS Trust. The recruitment was advertised widely through the Lipoedema UK patient support group.

All participants were asked to complete a quality-of life-survey. Participants with underwent genotyping, a technique which identifies differences between different people’s DNA. The lipoedema patients’ DNA was compared with women without lipoedema in order to identify any genetic changes specific to people with lipoedema.

Twenty-six genetic changes identified in the women with lipoedema were then validated by analysing the DNA of another set of women with lipoedema available through the Genomics England 100,000 Genomes Project . Using these techniques and further study, the team were able to pinpoint three places in the genome which appear to be associated with lipoedema. These areas are all on the same chromosome and close to a gene that is associated with lipomas, which are benign fatty tumours.

“This was a small study which needs to be replicated with a larger group of people, and we’re a long way from being able to use this information to help patients,” says Prof Ostergaard, Professor of Human Genetics at the St George’s Molecular & Clinical Sciences Research Institute. “But this is the first step to finding out what causes this disease. The more we know about it, the more we can use that knowledge to help diagnosis of this condition, as well as identifying potential treatments in the future.”"

 

Oh, that's really interesting—thanks for posting, @Binkie4. Hopefully they'll get funding to study a bigger group too.

 

https://med.stanford.edu/news/all-news/2020/11/biomarker-for-lipedema-discovered.html

Article from Nov 2020 by Tracie White (who wrote the book about Ron Davis) on a biomarker for Lipoedema discovered.

I haven't seen a lot written about this. I saw this on a fb page. I wonder if it is being used in clinics.

 

That's brilliant news! I hope it gets confirmed and accepted, it'll make a difference to a lot of women. I'm pretty sure mine's inherited (via my dad, who of course didn't have it), as my grandmother, aunt, and great grandmother developed it.

 

Nice fails to approve liposuction for lipoedema

13/02/2024

2nd Floor
2 Redman Place
London
E20 1JQ

Tel: +44(0)300 323 0140
www.nice.org.uk

Dear Registered stakeholders,



Overview | Liposuction for chronic lipoedema | Guidance | NICE



When the interventional procedures advisory committee made its recommendations on the use of liposuction for chronic lipoedema, it recognised that there were currently limited treatment options for this condition and that there was a need to define the most safe and effective treatment for it.

The committee acknowledged that further research would help with a future review of who would benefit most from this procedure.

Published data shared with us recently has been reviewed internally and the evidence within the published paper is not significant enough to prompt an early review on the current guidance.

We understand there are ongoing trials in this area, so will review this topic again next year.

In the meantime, please alert us if there is further new evidence generated by research in this area which can be considered by our committee.

Kind regards,



Interventional Procedures

National Institute for health and Care Excellence

2nd Floor, 2 Redman Place | London E20 1JQ | United Kingdom

www.nice.org.uk