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

Symptoms

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

Diagnosis

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:

Apolipoprotein B

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.

Total Cholesterol

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.

Triglycerides

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.

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