Rare Disease Day: 28th February 2019
Rare Disease Day raises awareness of rare diseases and how patients’ lives are affected. Many rare diseases remain incurable and many go undiagnosed. 1 in 20 people will live with a rare disease at some point in their life and this is why it is so important to raise awareness.1
What is a rare disease?
There is no single definition for a rare disease, as many countries identify them differently. In the United States, the Rare Diseases Act of 2002 defines a rare disease by its prevalence: “any disease or condition that affects fewer than 200,000 people in the United States”. However, the EU defines a rare disease as a condition that affects less than 5 in 10,000 of the population. There are approximately 7000 rare diseases and disorders and 50% of people affected by rare diseases are children.2,3
Hyperlipoproteinemia type III
This rare disease day, Randox will be raising awareness of hyperlipoproteinemia type III. Hyperlipoproteinemia type III, also known as dysbetalipoproteinemia or broad beta disease, is a rare genetic disorder characterised by improper breakdown of lipids, specifically cholesterol and triglycerides. The condition is caused by mutations in the Apo-E gene, however the inheritance of this condition is complicated due to the development of symptoms having to be triggered by a secondary factor to raise lipid levels. These factors include diabetes, obesity or hypothyroidism.
It is unknown exactly what the prevalence of the condition is, but it is estimated to affect approximately 1 in 5,000 – 10,000 of the general population and it has been found that it affects males more often than females, with women rarely being affected until after menopause.4,5
Figure A. Example of cholesterol and lipid build-up 
Symptoms for hyperlipoproteinemia type III will vary for each individual and some people may even be asymptomatic. The most common symptom is the development of xanthomas which are deposits of fatty material, the lipids, in the skin and underlying tissue. Xanthomas may appear on the palms of the hands, eyelids, soles of the feet or on the tendons of the knees and elbows.
> Chest pain or other signs of coronary artery disease
> Cramps in the calves when walking
> Sores on toes
> Stroke-like symptoms such as trouble speaking, dropping on one side of the face, weakness in an arm or a leg and a loss of balance6
Complications can arise if the condition is left untreated and these can include: myocardial infarction, ischemic stroke, peripheral vascular disease, intermittent claudication and gangrene of the lower extremities.7
Although there is no specific diagnostic test for hyperlipoproteinemia type III, diagnosis is based on clinical evaluation and identification of symptoms. Research has indicated that an algorithm comprising a number of dysbetalipoproteinemia indices may be helpful in the diagnosis of the disease. These include:
> Low apolipoprotein B to total cholesterol ratio
> Elevated levels of triglycerides
> Elevated levels of total cholesterol8
Managing the condition
The condition cannot be cured but treatment is to control conditions such as obesity, hypothyroidism and diabetes. Most patients will go through dietary therapy to control their intake of cholesterol and saturated fat. This prevents xanthomas, high levels of lipids in the blood, exercise will also help to lower lipid levels. However, dietary changes may not be effective for some individuals and this is where drugs may be used to lower lipid levels instead.
How Randox can Help
Randox offer a range of routine and niche assays within the lipid testing panel to monitor lipid levels and to identify associated complications. Some of these tests include:
The Randox Apolipoprotein B tests utilises an immunoturbidimetric method, offers a wide measuring range and is available liquid ready-to-use for convenience and ease of use.
The Randox Total Cholesterol test utilises the CHOD-PAP method and offers an extensive measuring range with a wide range of kits available to suit a wide range of laboratory sizes.
The Randox Triglycerides test utilises the GPO-PAP method while offering an extensive measuring range with both liquid and lyophilised formats available offering choice and flexibility.
Want to know more?
Contact us or download our Cardiology and Lipid Testing brochure to learn more.
Lipid Panel Page
 Rare Disease Day. What is Rare Disease Day? Rare Disease Day. [Online] 2019. [Cited: February 21, 2019.] https://www.rarediseaseday.org/article/what-is-rare-disease-day
 Genetic Alliance UK. What is a Rare Disease? Rare Disease UK. [Online] 2018. [Cited: February 21, 2019.] https://www.raredisease.org.uk/what-is-a-rare-disease/
 NZORD. Rare Disease Facts and Figures. NZORD. [Online] 2019. [Cited: February 21, 2019.] https://www.nzord.org.nz/helpful-information/rare-disease-facts-and-figures.
 NORD. Hyperlipoproteinemia Type III. NORD. [Online] 2019. [Cited: February 21, 2019.] https://rarediseases.org/rare-diseases/hyperlipoproteinemia-type-iii/
 GARD. Hyperlipidemia Type 3. National Centre for Advanciing Translational Sciences. [Online] December 29, 2016. [Cited: February 21, 2019.] https://rarediseases.info.nih.gov/diseases/6703/hyperlipidemia-type-3
 Falck, Suzanne. Everything you need to know about hyperlipidemia. Medical News Today. [Online] December 21, 2017. [Cited: February 21, 2019.] https://www.medicalnewstoday.com/articles/295385.php
 Medline Plus. Familial Dysbetalipoproteinemia. Medline Plus. [Online] May 16, 2018. [Cited: February 21, 2019.] https://medlineplus.gov/ency/article/000402.htm.
 Dysbetalipoproteinemia: Two cases report and a diagnostic algorithm. Kei, Anastazia, et al. 4, s.l. : World Journal of Clinical Cases, 2015, Vol. 3.
Cholesterol is a fatty substance also known as a lipid. It is made by the liver but can also be found in some foods. It is essential to let the body function normally. You will be sad to hear that high levels can increase your risk of serious health conditions. There are two main types; high-density lipoproteins (HDL) and low-density lipoproteins (LDL). HDL is known as good cholesterol. It carries cholesterol back to the liver, where it is broken down. LDL on the other hand carries cholesterol to the cells however if there is a surplus it can build up in the artery walls increasing the chances of a heart attack or stroke occurring.
Here are some scary facts about cholesterol…
- You can’t live without it – Cholesterol has been in your body since the day you were born. It is a building block for all cells. Not only that but all of our cells and hormones need it to function properly…unfortunately you are very unlikely to find good cholesterol in your typical trick-or-treat offerings.
- Not all patients on cholesterol-lowering medication respond optimally to it – In the recent past, aspirin (a drug used to reduce levels) was prescribed for people who had a perceived risk of a heart attack. However aspirin does not always work; up to 30% of patients could have a below optimum response to the drug and therefore be at a considerably increased risk of a recurrent cardiovascular event. This is may also be referred to as “aspirin resistance”.
- One third of adults have high cholesterol – Testing is advised every 5 years to monitor your levels to see any changes. To get the most accurate results tests should be carried out one week apart, however most testing facilities won’t follow this.
- High levels could be down to genetics – Diet you can change, genes you can’t! If your family has a history of high cholesterol then you are likely to have it as well. It has been suggested that 75% of cholesterol is due to genetics and the remaining 25% is down to diet and lifestyle choices.
- Women’s levels will fluctuate over their lifespan – Did you know that ladies? During the average woman’s lifespan, cholesterol levels will rise and fall due to pregnancy and menopause. During pregnancy levels will rise in order to help the baby develop. After birth the mother’s levels should return to normal however after menopause a woman’s LDL levels will rise to that higher of a man’s.
However it is not all doom and gloom this Halloween! Randox are here to treat you to a vast range of specialised blood tests to allow the most accurate diagnosis of cholesterol levels, allowing you to gauge how many sweets you can sneak in this Halloween! We offer a large array of routine and niche tests. The most popular and widely tested are HDL, LDL, total cholesterol and triglycerides. Some further risk assessment cholesterol tests which are not routinely run include sLDL, HDL3, Lp(a). These cholesterol biomarkers are also affected by the usual risk factors such as age, weight, smoking, etc.; however they can also be a result of one’s genes. As mentioned before aspirin resistance is a big problem affecting up to 30% of all patients on aspirin therapy. However Randox offer the TxBCardio™ test which is a unique test to diagnose and assess the effectiveness of aspirin therapy.
From all of us here at Randox we wish you a safe and happy Halloween!
For health professionals
Randox Laboratories manufacture a wide range of routine and niche biochemistry reagents suitable for both research and clinical use. These include a wide variety of automated routine and niche cardiac tests and our new HDL3-C assay. Please contact firstname.lastname@example.org for further information.