Living with CESD (Cholesterol Ester Storage Disease)

[AmiMan]

After finding my way to this site from the British Liver Trust I signed up and would like to introduce myself.

I have CESD (Cholesterol Ester Storage Disease) which is a rare Liver Condition that causes my liver to store cholesterol.

CESD was diagnosed in me about 25 years ago but over time it has been taking its toll on my liver. CESD has given me Chronic Liver Disease which started with Fibrosis and is now progressing towards Cirrhosis.

Living with this condition is not easy as sometimes I feel tired and not functioning at my best, but outwardly do not look ill. My liver struggles on a daily basis even when I am well but if I have an infection, cold or flu then the demands on it are greater and that leaves me feeling more tired or more unwell and takes longer for me to recover. For example Last week I had a tooth removed due to an infection but four days later I am still waiting for it to stop bleeding and clot completely, this is caused due to my reduced platelet count caused by the Liver Disease.

Having a rare disease means you do not always have answers to all your questions and you have to do some research yourself. In addition your condition may not be understood by other people especial if you have no outward symptoms.

I would like to praise the Liver Unit at Kings College Hospital London for their support and helping me to manage my condition.

[Bolly]

Hello AmiMan with your interesting and rare liver disease!

I've not heard of anyone on here with the same cause of their cirrhosis, but we do have many people here dealing with the side effects and symptoms of having cirrhosis. Whatever the cause, the symptoms and side effects seem to be pretty much the same.

So you will find a kinship of others with the fatigue, the clotting issues, the low platelets, the out of range liver enzymes, the susceptibility to viruses, infections etc, as well as those with advanced cirrhosis and the problems and niggles that brings.

I look forward to hearing more from you.

[SweetJaney]

Hello Amiman and welcome. You are in good company here with so many of us to talk to, all with connections to Liver related issues. I have Cirrhosis so am familiar with several problems relating to this. Never heard of your condition, but it will be interesting to learn more about it. x

[Hidden]

Welcome!! 👍

X x

[AyrshireK]

Welcome to you AmiMan, think you're the first with that particular disease on the forum but the rest of the symptoms you are displaying are common across the board with many of those already posting.

Good to know you are already under the amazing team at Kings College and are getting great care.

All the best to you,

Katie

[AmiMan]

Thanks for your interest and kind words. Here is a little about my journey and CESD.

Yes CESD is quite a rare disorder and usually goes undiagnosed until its effects show as advanced liver disease or in my case discovered during an unrelated investigation.

CESD is an autosomal recessive disease requiring faulty genes from both parents.

CESD causes cholesterol to stay in liver cells, this then causes scarring fibrosis is formed. I am at the point now where the liver fibrosis is progressing on to liver cirrhosis

I first found my liver was not as it should be after having my appendix removed when I was 27 the surgeon noted the colour and texture of my liver was not normal. Then aprox 2 years later I had my gallbladder removed and a liver biopsy was taken. It was then I was clinically diagnosed With Gilbert's Syndrome and CESD.

I was put on Statins back in 1992 to try to reduce my cholesterol after a change of diet did not make changes to my cholesterol levels. Then 12 years on my care transferred to a liver specialist locally who eventually referred me to Kings Liver Unit and this is when I had a genetic test for CESD.

After the loss of my two sisters, one to Hepatocarcinoma and the other to Cholangiocarcinoma both who had CESD, I have been put on regular checks at Kings these include blood tests, Ultrasounds and occasional CT or MRI scans. I have recently and had a Fibroscan with a score of 12.5.

It is very unfortunate that all three siblings inherited two faulty genes.

[Estiebargle]

Welcome & thanks for sharing.

[DLTT]

My daughter also suffers from CESD. I hope that you are feeling better soon!

[AmiMan in reply to DLTT]

Hi DLTT

Thanks for your post, I am feeling Ok at the moment, thats how it goes sometimes better and some times not so good.

I am going to Kings for a check up in just over a weeks time so always feel a little apprehensive until i have had the results from my scan and blood tests.

I hope you and your daughter is well. Has your daughter known she has CESD for a while or has it just been diagnosed.

Your daughter is the first person I have heard of with CESD apart from my sisters. Does she have regular checkups. I am lucky to be under the care of King's College Hospital London.

Take care and keep in touch.

[DLTT]

Hi AmiMan,

My daughter is 9 years old. She started showing symptoms in August 2014, and was dig nosed after a liver biopsy in June 2015.

She has fibrosis, but no cirrhosis.

She does not have many symptoms since we switched to s low fat/low sugar diet, so I am very happy about that. There is nothing worse then seeing your child suffer.

I hope that your next appointment goes well!!

[DLTT]

Hi AmiMan,

She is currently 9 years old. She started having symptoms in 2014, and was diagnosed in June of 2015.

Her specialists are very helpful, so we are very lucky!