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 🙂