Breaking News
January 19, 2019 - Newly developed risk score more effective at identifying type 1 diabetes
January 19, 2019 - Highly effective protocol to prepare cannabis samples for THC/CBD analysis
January 19, 2019 - Prinston Pharmaceutical Inc. Issues Voluntary Nationwide Recall of Irbesartan and Irbesartan HCTZ Tablets Due to Detection of a Trace Amount of Unexpected Impurity, N-Nitrosodiethylamine (NDEA) in the Products
January 19, 2019 - How does solid stress from brain tumors cause neuronal loss, neurologic dysfunction?
January 19, 2019 - $14.7 million partnership to supercharge vaccine development
January 19, 2019 - Ian Fotheringham receives Charles Tennant Memorial Lecture award
January 19, 2019 - Brain vital signs detect neurophysiological impairments in players with concussions
January 19, 2019 - Lack of job and poor housing conditions increased likelihood of people attending A&E
January 19, 2019 - Novel targeted drug delivery system improves conventional cancer treatments
January 19, 2019 - Rutgers study finds gene responsible for spread of prostate cancer
January 19, 2019 - Complications Higher Than Expected for Invasive Lung Tests
January 19, 2019 - 3-D printed implant promotes nerve cell growth to treat spinal cord injury
January 19, 2019 - Automated texts lead to improved outcomes after total knee or hip replacement surgery
January 19, 2019 - Poor cardiorespiratory fitness could increase risk of future heart attack, finds new study
January 19, 2019 - Drinking soft drinks while exercising in hot weather may increase risk of kidney disease
January 19, 2019 - Formlabs 3D prints anatomical models
January 19, 2019 - Heart-Healthy Living Also Wards Off Type 2 Diabetes
January 19, 2019 - Teaching Kids to Be Smart About Social Media (for Parents)
January 19, 2019 - Metabolite produced by gut microbiota from pomegranates reduces inflammatory bowel disease
January 19, 2019 - Researchers examine how spray from showers and toilets expose us to disease causing bacteria
January 19, 2019 - Behavioral experiments confirm that additional neurons improve brain function
January 19, 2019 - New study compares performance of real-time infectious disease forecasting models
January 19, 2019 - Obesity can be risk factor for developing renal cell carcinoma, confirms study
January 19, 2019 - New regulation designs on cigarette packs direct smokers’ attention to health warnings
January 19, 2019 - QIAGEN receives first companion diagnostic approval in Japan
January 19, 2019 - Study explores role of Dunning-Kruger effect in anti-vaccine attitudes
January 19, 2019 - Newly identified subset of immune cells may be key to fighting chronic inflammation
January 19, 2019 - New immune response regulators discovered
January 18, 2019 - Poor blood oxygenation during sleep predicts chance of heart-related death
January 18, 2019 - First international consensus on the diagnosis and management of fibromuscular dysplasia
January 18, 2019 - Rapid resistance gene sequencing technology can hasten identification of antibiotic-resistant bacteria
January 18, 2019 - Researchers develop artificial enzymatic pathway for synthesizing isoprenoids in E. coli
January 18, 2019 - Scientists advise caution in immunotherapy research
January 18, 2019 - How children across the world develop language
January 18, 2019 - Columbia Medical Student Receives McDonogh Scholarship
January 18, 2019 - Secretive ‘Rebate Trap’ Keeps Generic Drugs For Diabetes And Other Ills Out Of Reach
January 18, 2019 - Plant based diet could be the best option for the planet says commission
January 18, 2019 - New conservation practice could reduce nitrogen from agricultural drainage, study shows
January 18, 2019 - UIC researchers receive $1.7 million NCI grant to study Southeast Asian fruit
January 18, 2019 - New study determines the fate of DNA derived from genetically modified food
January 18, 2019 - Scientists develop new gene therapy that prevents axon destruction in mice
January 18, 2019 - Study finds critically low HPV vaccination rates among younger adolescents in the U.S.
January 18, 2019 - Brain cells involved in memory play key role in reducing future eating behavior
January 18, 2019 - Risk for Conversion of MS Varies With Different Therapies
January 18, 2019 - Investigational cream may help patients with inflammatory skin disease
January 18, 2019 - Medical school news office receives six writing awards | News Center
January 18, 2019 - County By County, Researchers Link Opioid Deaths To Drugmakers’ Marketing
January 18, 2019 - Research reveals risk for developing more than one mental health disorder
January 18, 2019 - Scientists discover a dramatic pattern of bone growth in female mice
January 18, 2019 - Study finds link between lengthy periods of undisturbed maternal sleep and stillbirths
January 18, 2019 - New nuclear medicine method could improve detection of primary and metastatic melanoma
January 18, 2019 - Combination therapy shows high efficacy in treating people with leishmaniasis and HIV
January 18, 2019 - Health Tip: Don’t Ignore Changes in Skin Color
January 18, 2019 - Dietary Recommendations for Healthy Children
January 18, 2019 - Eliminating the latent reservoir of HIV
January 18, 2019 - Pain From The Government Shutdown Spreads. This Time It’s Food Stamps
January 18, 2019 - Newly discovered regulatory mechanism helps control fat metabolism
January 18, 2019 - New rapid blood tests could speed up TB diagnosis, save the NHS money
January 18, 2019 - Researchers develop intelligent system for ‘tuning’ powered prosthetic knees
January 18, 2019 - Monoclonal antibody pembrolizumab prolongs survival in patients with squamous cell carcinoma
January 18, 2019 - New research detects mosquito known to transmit malaria for the first time in Ethiopia
January 18, 2019 - Researchers identify new genes linked to development of age-related macular degeneration
January 18, 2019 - Computerized method helps better protect pharma patents
January 18, 2019 - New guidelines to make swallowing safer for people in Australian nursing homes
January 18, 2019 - Lumex Instruments’ RA-915AM monitor installed at Hg treatment plant in Almadén, Spain
January 18, 2019 - ACCC survey finds multiple threats to growth of cancer programs
January 18, 2019 - Meeting the challenge of engaging men in HIV prevention and treatment
January 18, 2019 - Furloughed Feds’ Health Coverage Intact, But Shutdown Still Complicates Things
January 18, 2019 - Experts discuss various aspects on health risks posed by fumigated containers
January 18, 2019 - Researchers use gene-editing tool CRISPR/Cas9 to limit impact of parasitic diseases
January 18, 2019 - Alpha neurofeedback training could be a means of enhancing learning success
January 18, 2019 - Innovative ‘light’ method demonstrates positive results in fight against malignant tumors
January 18, 2019 - The cytoskeleton of neurons found to play role in Alzheimer’s disease
January 18, 2019 - New resource-based approach to improve HIV care in low- and middle-income countries
January 18, 2019 - Bedfont appoints Dr Jafar Jafari as first member of the Gastrolyzer Medical Advisory Board
January 18, 2019 - New study shows link between secondhand smoke and cardiac arrhythmia
January 18, 2019 - DZIF scientists reveal problems with available diagnostics for Zika and chikungunya virus
January 18, 2019 - Breast cancers more likely to metastasize in young women within 10 years of giving birth
January 18, 2019 - Over 5.6 million Americans exposed to high nitrate levels in drinking water
January 18, 2019 - Blood vessels can now be created perfectly in a petri dish
How HCP’s can Support Patients with Rare Diseases

How HCP’s can Support Patients with Rare Diseases

image_pdfDownload PDFimage_print

An interview with Dr Robert Cramb, conducted by Alina Shrourou, BSc.

Please give an overview of Familial Chylomicronemia Syndrome (FCS).

FCS is a rare syndrome. There are a number of potential causes, but the most common is associated with a lack of an enzyme (protein) called lipoprotein lipase. This protein helps release fatty acids from a large structure called the chylomicron, that circulates in the blood after being formed after fat is taken up from the intestine. The fatty acids are taken up into muscle and fat cells and are used to provide energy to move our muscles, to keep our hearts working, and to keep all of the cells in our body topped with energy.

FCS is therefore caused by a problem of release of fats from this large protein lipid, fat—containing complex.

How prevalent is FCS and why is it so rare?

About one to two people per million are likely to have the syndrome. FCS is a recessive disease, so you must have defects on the lipoprotein lipase gene from both parents.

Is it easy for doctors to recognise and diagnose the condition?

It’s not easy. Children can present with abdominal pain as a result of having high blood fat, but often it is young adolescents who present with the abdominal pain or other non-specific symptoms, that can include lack of energy or not feeling out-of-sorts. Even then, a blood test is the only reliable way to show the problem.

© tobe24/

In order to see that problem, you must test for blood fat, triglyceride in the blood. There is no need to have the patient fasting and the blood sample should be taken at random. If the condition is present in a patient, the sample obtained will be milky in comparison to normal blood and even if the triglyceride test is not requested, laboratory staff are likely to see the problem as milky blood samples can cause interference with some of the routine blood tests.

What are the direct and indirect symptoms a patient might experience when suffering from FCS?

The worst of the problems is acute pancreatitis. That is the worst presenting symptom where there is inflammation in the pancreatic gland.

The pancreas has two functions, an endocrine and an exocrine function. The endocrine function is to supply insulin to allow the transport of sugar from the circulation into muscle and into fat cells and to help activate lipoprotein lipase, so that fat is also taken up by muscles and fat cells.

The exocrine function is to secrete lipases and tryptases into the intestine to help digest our food. With acute pancreatitis, the gland becomes inflamed and there is release of these digestive proteins, into the abdomen which inflames all the surrounding organs and causes acute pain.

While acute pancreatitis is the worst presentation of the illness, other symptoms include “fuzzy” brains, lack of concentration, joint pains and fatigue.

Are there any issues with misdiagnosis of FCS?

Often, this condition is regarded as people presenting with symptoms because they are eating badly. In fact, individuals with FCS can present with their problems when they’re eating well and invariably they are slim individuals, who are very conscious of the problems that occur if they overeat, and particularly if they overeat fat.

People with FCS also often experience frustration as recurrent pancreatitis sometimes leads to HCPs who are not fully aware of FCS, to make assumptions about a patient’s alcohol consumption.

If you review the causes of pancreatitis, the top two, most common are gallstones and alcoholic pancreatitis. Although familial chylomicronemia syndrome is a rare cause of pancreatitis, in some series of reviews it is the third most common presentation.

Unfortunately patients with pancreatitis precipitated by alcohol can also present with high blood fats. FCS should be considered when triglyceride levels are above 11 millimoles per litre. It is common for patients with FCS to have ‘normal’ levels between 15 and 30 millimoles per litre even when they were reasonably controlled. However patients with alcoholic pancreatitis may present with triglyceride of levels above 20 millimoles per litre and may on occasion be as high as 100 millimoles per litre.

It is therefore difficult for healthcare professionals to make the diagnosis, and to avoid an incorrect diagnosis it is important not to dismiss patients who insist that they do not drink. You have to ask the laboratory to help you with the diagnosis as there is usually a characteristic milky layer found on top of specimens prepared for analysis.

What are the current treatment options available to FCS patients?

There are few options. In the acute phase in acute pancreatitis, a treatment called plasmapheresis can be very useful to get the blood fats down. Otherwise, everyday treatment is really about a very low-fat diet – 10 to 15g of fat is regarded as the absolute maximum that should consumed daily. Essentially, a large tablespoon full of olive oil or two-thirds of an avocado would be as much fat as you should consume during the day.

© marekuliasz/

If you consider that and if you look at the labelling of foods, and the quantity of fats in most products you will find that you can quickly consume the maximum 15 grams of daily fat suggested.

What are the difficulties for patients in following such a low-fat diet?

It is a boring diet and you have to be absolutely strict with dietary compliance. Patients are unable to eat a lot of meat, and dairy produce is almost always ruled out.

In terms of what fats FCS patients can eat, the best option is medium-chain triglycerides. These are fats that have carbon lengths of up to around 10 carbon atoms rather than the 14 to 18 carbon atoms in the fatty acids typically found in foods.  

These fats can be directly taken up from the gut to the liver, and provide some energy directly. In general, these fats do not taste good and it is an extremely difficult diet to follow. In general many of the foods tend to be rather dry and lack flavour, especially as the use of sauces has to be carefully reviewed to avoid high fat containing sauce that my cause symptoms.

Why are patient support groups so important for rare disease? Are patient support groups easily accessible for FCS patients?

The LPLD alliance is a well established group run that provides support and information to by patients for patients and they give a good overview of what can and what cannot be consumed. Moreover it is a really useful way of making sure patients do not feel as if they are suffering alone.

As HCPs, it is very important that we refer patients to specialists, usually lipid or metabolic specialists, who know where the support groups are and who can provide support with specialist dietetic care

Why is it important to raise awareness for rare diseases such as FCS among the health care professional community?

Unless rare diseases are recognized, individuals may feel isolated and isolation means that there is ignorance.

If HCPs can get patients to go to specialised clinics, patients can feel reassured that there is other people there, in a similar situation to them, and they can share their information with these individuals, as well as feeling confident that HCPs are providing the best care and advice. These actions can help with the disease and makie sure that there’s information voiced between those patients, and they can see that there’s opportunities to reach out and get to the support groups. Within those groups, bonds form and the group is more inclined help support research, and participate in trials of therapy.

What’s your advice to HCPs who want to educate themselves on FCS for their patients?

Coming from Heart UK, where I am a trustee and a past chairman of Heart UK, we have a page on FCS as it is a lipid disorder, and there are pointers from the pages there to show healthcare professionals what they should be thinking about and where also to go and get advice.

The LPDP alliance, as previously mentioned, have very good information on the problem and are headed by individuals who properly understand the problems of the disease.

Where can readers find more information?

About Dr Robert Cramb

Dr Robert Cramb is a Medical Advisor for the West Midlands screening service for Familial Hypercholesterolaemia. Previously he was a Consultant Chemical Pathologist and Lipidologist at the University Hospital Birmingham NHS Foundation Trust.  

His clinical interests are in lipids and lipoprotein disorders, and quality assurance in pathology. He has a wide collaborative research interest in metabolic medicine, point of care testing and use of liver function tests. Dr Cramb is a trustee of the Hyperlipidaemia Education and Research Trust (HEART UK; The Cholesterol Charity; appointed trustee July 2010) and was previously Chair of the board of trustees from 2011-2014. He is currently the Clinical Lead for the West Midlands screening service for Familial Hypercholesterolaemia.

Tagged with:

About author

Related Articles