A podcast about diabetes and genes
With Andrew Hattersley
and Maggie Shepherd
A podcast about diabetes and genes
With Andrew Hattersley
and Maggie Shepherd
Cassi Connelly talks about her experience of having familial partial lipodystrophy characterised by a loss of fat and muscular appearance of her arms and legs. She had multiple medical problems including diabetes for decades before the diagnosis of familial partial lipodystrophy was finally confirmed by a genetic test. Her treatment is now better tailored to her needs
Familial Partial Lipodystrophy (FPLD) are a group of conditions where from late childhood/adolescence there is a progressive loss of fat under the skin from the limbs. The loss of fat and an increase in the size of the muscles means that the arms and legs look muscular especially in women. As calories cannot be stored as fat under the skin in the limbs this means that there is increased fat in the liver and muscles resulting in insulin resistance (so insulin works less well in lowering glucose). There are many medical conditions that result from there being “fat in the wrong place” these include insulin resistance, diabetes, fatty liver which can lead to fibrosis, high blood pressure, being predisposed to early coronary heart disease and stroke and acute pancreatitis. Women may display the features of polycystic ovary syndrome such as increased facial hair growth, reduced periods, polycystic ovaries and infertility.
FPLD is rare affecting about 1 in 100,000 of the population; however, this is likely to be an underestimate as the diagnosis is often missed.
There are at least 5 difference genetic causes of Familial Partial Lipodystrophy. The most common forms of FPLD, are caused by changes in the LMNA gene or the PPARG gene. Finding the genetic cause can help make a firm diagnosis and to some extent guide clinical management.
Diagnosis is made by clinical examination on the appearance of the limbs and the presence of insulin resistance in the absence of obesity. Blood tests can show high triglyceride levels, low levels of high-density lipoprotein (HDL)-cholesterol, raised blood insulin levels and high glucose/diabetes. Body mass index is usually normal. Liver enzyme levels should be measured and ultrasound of liver should be performed. Cardiovascular investigations are needed to search for early heart disease. Molecular genetic testing can confirm the diagnosis.
To reduce the fat in the wrong place the key thing is to reduce the amount of food eaten; even though patients are typically not overweight. Reducing food intake can be greatly helped by medication that reduces appetite called GLP-1 receptor agonists which are typically used in patients who are overweight. Other treatment involves reduce risk of heart disease using high dose statins, diet to help the blood fats and metformin, SGLT2inhibitors and insulin for high blood sugars.
More information and details of support for people with FPDL including the facebook page can be found on the Lipodystrophy UK website here: https://lipodystrophyuk.org/
Cambridge run the National NHS severe insulin resistance service to help manage patients and their website is here:
https://www.cuh.nhs.uk/our-services/diabetes/national-severe-insulin-resistance-service/