Lipodystrophy awareness

You are most likely reading this right now, after having read the title, thinking “What on earth is ‘lipodystrophy’?” I would have thought exactly the same a couple of years ago. That was before my mum mentioned that she thought she might have it – she was then diagnosed with it a year later.

I normally blog about dyspraxia, but my mum suggested a while ago that I could write a blog post about lipodystrophy as it is so frustrating how little awareness there is out there. So I went ahead and wrote this blog post to hopefully raise a bit of awareness.

Firstly, I’ll start off with what lipodystrophy literally means.

‘Lipo’ is Greek for ‘fat’ and ‘dystrophy’ is Greek for ‘abnormal or degenerative condition’. So when the two are put together, lipodystrophy is referring to an abnormal condition affecting the way the body stores fat.

Lipodystrophy in itself is rare, but some specific types of it are even rarer. Lipodystrophy can be either congenital or acquired.

The congenital types of lipodystrophy are:

  • Congenital generalized lipodystrophy
  • Familial partial lipodystrophy

The acquired types of lipodystrophy are:

  • Acquired partial lipodystrophy (Barraquer-Simons syndrome)
  • Acquired generalised lipodystrophy
  • Centrifugal abdominal lipodystrophy (Lipodystrophia centrifugalis abdominalis infantilis)
  • Lipoatrophia annularis (Ferreira-Marques lipoatrophia)
  • Localized lipodystrophy
  • HIV-associated lipodystrophy

The type of lipodystrophy my mum has is acquired partial lipodystrophy, which is also known as Barraquer-Simons syndrome. This is the type of lipodystrophy which I will be focusing on in this blog post. Acquired partial lipodystrophy is extremely rare – in 2013 it was said that only 250 cases have been reported worldwide! Of course, the fact that there is such little awareness of it means that there could be more people out there who have it without even realising it.

Before writing this blog post I did some research as there is a lot about lipodystrophy that I am yet to learn myself. I thought I would have a look at social media to see what sort of information is on there, and the number of results that came up puts into perspective how little awareness there is.

A search on twitter for ‘acquired partial lipodystrophy’ only came up with a total of 13 results. Even more shockingly, on Facebook there was only one result. When I saw this I began to understand what my mum meant when she said there is such little awareness about lipodystrophy.

Acquired partial lipodystrophy is characterised by a loss of fat from the upper half of your body, so all of your body fat is stored on the lower half of your body. This can result in complications. For example, it can result in fat being stored in your internal organs.

Despite the fact that my mum’s lipodystrophy started at around the age of 10, she was not diagnosed until she was 37. Even when my mum did hear about lipodystrophy, getting a diagnosis wasn’t simple. There are blood tests that need to be done, but even those aren’t entirely accurate. My mum’s blood test results came back and looked as though she didn’t have lipodystrophy. It took a lot of persuasion from my mum but my mum was eventually referred to a consultant who specialised in lipodystrophy, and the consultant said that my mum is a ‘textbook case’ of acquired partial lipodystrophy. It is just so hard to detect using blood tests.

My mum was lucky in the fact that the hospital specialising in lipodystrophy wasn’t very far from where she lives. Other people, however, have to travel miles across the country to attend their appointments.

Even getting the right appointment wasn’t easy. My mum was referred to so many different people, each time only to be told that she needs to be referred to someone else.

At my mum’s appointment they looked at possible causes for her lipodystrophy. Sometimes it is triggered by a viral infection, or in other cases there is no known reason. For my mum, there is no known reason. However, lipodystrophy is associated with autoimmune disorders and in our family there is a history of autoimmune disorders, such as vitiligo which I have. The consultant then said that this may mean that there is some sort of ‘autoimmune gene’ in our family.

My mum was asked to bring photos of herself when she was younger along with her to the appointment. From the age of 10 (commonly the age for the onset of acquired partial lipodystrophy) you can see she started to lose the fat in her face. My mum went for years not knowing why this was, so in a way it was a relief to eventually be diagnosed. On the other hand, there were complications which needed to be ruled out.

My mum had an MRI scan to rule out the fact that fat was being stored on her internal organs (due to the fact that her body can’t store fat properly). This kept getting delayed for various reasons, so she still hasn’t had the full results from this.

At the appointment, my mum was also asked to see a dietician. While it seemed strange at first, my mum was advised to eat foods that are low in fat. This is the opposite for what you might think in someone experiencing a loss of fat, but it is due to the risk of fat being stored in your internal organs.

Unfortunately, there aren’t any treatments for lipodystrophy. Although due to the appearance of it and the psychological affects, there are options available that would be regarded as ‘cosmetic treatment’. They don’t cure the lipodystrophy itself, but they do change your appearance.

There are different ways in which this can be done. ‘Fillers’ can be used which are implanted into your face to give your face the extra fat that isn’t currently there. Or another way in which this can be done is by injecting your face with some of your own body fat. This is the treatment my mum is looking to have done. However, due to the lack of awareness surrounding this condition this is not an easy battle.

Firstly, the medical professionals need to change the view that this is ‘cosmetic’. It can and it should be done on the NHS, because lipodystrophy is a medical condition and it does have extreme effects on your self-confidence. If I can get skin camouflage make-up for my vitiligo on the NHS (not that it’s practical to use – that’s another story!) then my mum certainly should be allowed to have treatment for her lipodystrophy.

The loss of fat from the face is the part of acquired partial lipodystrophy people notice the most. My mum has had very ignorant comments before. People have blatantly pointed out how ‘skinny’ my mum is and have called her ‘anorexic’ before – the ignorance of some people is unbelievable.

So you can probably imagine that my mum was relieved a couple of weeks ago when it was the day of her appointment where she would finally find out whether she would finally find out the details of her treatment. My mum arrived at her appointment only to be told that they didn’t specialise in lipodystrophy and that she needed to be referred to another place. She was also told that it was unlikely she would be able to get  the treatment she wanted on the NHS. So as you can tell disappointed was an understatement of how my mum felt after this appointment.

My mum has now been referred to another hospital which isn’t the easiest of places to travel to, but she is determined to get the treatment she should be entitled to.

I have spoken mainly about acquired partial lipodystrophy in this blog post so far, but as I have said there are other types of lipodystrophy too. One example of where lipodystrophy has, surprisingly, been in the media is this article: http://www.bbc.co.uk/news/blogs-ouch-30948179

Lizzie Velasquez, who is talked about in the article, has lipodystrophy as well as Marfan syndrome. Her lipodystrophy affects the whole of her body and means that her body cannot store any fat. Sadly, she suffered a huge amount of ignorance about her appearance and was called the ‘world’s ugliest woman’. However, she has not let these comments stop her and has a Youtube Channel and following on from this was asked to give a TED talk.

I have learnt more about lipodystrophy myself through writing this blog post, although there is still so much that I don’t know about it. I haven’t even gone into detail about the medical/scientific side of it, but hopefully this blog post has helped to make you a bit more aware. Please feel free to share this to help raise awareness. Also, could you please answer the poll below, just something I wanted to do out of interest to see how much awareness there is. Thank you!

Natalie 🙂

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19 Comments

  1. I had never heard of this! I feel for your mom! I am glad she is getting help. I will keep this in mind and spread awareness when I can:)
    Thank you for sharing.

    Like

    • Thank you so much! Glad I’ve helped make at least one more person aware 🙂

      Like

  2. Emma

    Hi Natalie. Loved your blog on lipodystrophy. I too have barraquer simons syndrome and like your mum lived with it from a young child til I was diagnosed 8 yrs ago! Since then I have had 3 lots of facial fat transfers and am able to have them as often as necessary. Would love to know how your mum is getting on?

    Like

    • Hi Emma, thank you – glad you liked it! Wow, that’s a coincidence that you have the same type! My mum has never spoken to anyone else with lipodystrophy before, so she’d love to speak to you! My Facebook account is: https://www.facebook.com/Natalie.MLW so if you want to inbox me you can and I’ll give you my mum’s details 🙂

      Like

    • Emma Stamper

      Hi Natalie. Have just stumbled across your blog again whilst unable to sleep and realised you replied to me! I’m not on Facebook. How is your mum? I am currently awaiting my fourth fat transfer to my face. Is your mum in any pain or does she have any associated auto immune or kidney disease? X

      Like

      • Hi Emma. My mum doesn’t have any associated auto immune or kidney disease, but she has been finding that she has been getting really tired some days and just feels like she doesn’t have much energy. She was telling me how she’s been getting pain in her arms too. After speaking to others with lipodystrophy she said that others have said it’s quite common to get really tired etc. with lipodystrophy. Do you have any associated conditions?x

        Like

      • Emma

        Hello again Natalie😊. I’m so sorry to hear your mum is suffering with fatigue. It really is a horrible feeling. It’s almost like your power supply has been disconnected!? It has been explained to me that it is because of the immune system is always on the attack😨. X

        Like

      • Hi Emma, I never realised that was why, I’ll mention that to my mum in case she didn’t know already x

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      • Emma

        I have auto immune thyroiditis, sjogrens syndrome, low complement c3 levels= trouble fighting off bacterial and viral infections. c3 nephritic factor= chronic kidneydisease, mebranoprolefarive type 2. High blood pressure. Chronic ibs. Athralgia. Myalgia. Chronic fatigue. Xx

        Like

      • That is a lot to deal with! Hope you’re doing okay at the moment x

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      • Emma

        I really hope your mum is being looked after by her doctor? I have been so lucky. I have a fab bunch of doc’s. Any joy on your mum’s cosmetic treatment? Xx

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      • That’s great that you’ve got such good doctor’s. My mum’s decided not to go ahead with the treatment x

        Like

  3. Hi Natalie, I have recently been diagnosed with lipodystrophy but have not gotten any testing done yet. I have been googling and you tubing it to try to understand what it is and what causes it and treatment for it. But as you have said it’s so rare that they don’t really know and there is really no treatment for it.

    Like

  4. Hi Natalie, I was just diagnosed with lipodystrophy 2 weeks ago. I haven’t had any blood test yet, in which I am not looking forward to! I have been googling and you tubing it to learn what causes it and treatment for it. But like you said they really don’t know and there really isn’t a treatment for it. Thanks for sharing your blog and I will keep y’all in my prayer’s. As I assume your mom is in a lot of pain like I am.

    Like

    • Hi Karen, yeah there’s such little awareness of it unfortunately. No problem – thanks for your comment!

      Like

  5. Hi I also have lipodystropthy but I have the genetic type. I have atypical familial partial lipodystrophy LMNA mutation. There are lipodystrophy support groups on Facebook if your mum would like to join xx

    Liked by 1 person

  6. Anna

    Hey, everyone. I was wondering if those of you who have been diagnosed would mind sharing the names of the physicians who finally solved your medical puzzles? I’ve had progressive subcutaneous fat loss that’s become particularly apparent in my face, hands, feet, torso, and arms over the past two years. I saw one specialist who believed Ehlers Danlos was a possible culprit, but I’m now having some metabolic abnormalities, PCOS, recurrent hematuria, and weakness in the hips and glutes. I’ve also noticed my sister, father, and my father’s siblings and mother seem to have particularly gaunt faces, thin arms and hands with highly visible veins, and metabolic issues including diabetes. They also all have weakness in the hips and glutes. I’m wondering if we have a familial type of lipodystrophy or if we all have some other autoimmune condition causing acquired lipodystrophy. My father and sister have also been diagnosed with Crohn’s but neither of theirs has been at all ‘typical’, and my father hasn’t needed medication in a decade. Would love to find a skilled diagnostician who could help us! Any advice/referrals would be greatly appreciated.

    Like

    • Hi Anna, the referral has to be done through your GP. There aren’t many specialists in the UK, but I know there’s one at Addenbrooke’s hospital in Cambridge – it’s the department of severe insulin and endocrinology. One of the consultants is Dr Anna Steers and she specialises in lipodystrophy. Hope you all find some answers soon!

      Like

  7. Brenda

    Hi Nataliemlw.
    I have a very dear lady friend with the same type of lipodystrophy that your mom has. Over the years she has seen many specialists and had the fat replacement surgery to her face done. Unfortunately it didn’t stay for very long at all. If your mom is still wanting to find more like her who can understand and support one another, I will refer her to this post.
    Jean (not my real name)

    Like

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