Breaking News
October 21, 2018 - Income and wealth affect the mental health of Australians, study shows
October 21, 2018 - Patients with hypertension and psoriasis more often require cardiovascular interventions
October 20, 2018 - Leading hip-hop videos depict use of tobacco and marijuana products, study finds
October 20, 2018 - Dose Range of IV Ketamine for Adjunct Tx of Depression Tested
October 20, 2018 - Infants can distinguish between leaders and bullies, study finds
October 20, 2018 - Mad Cow disease found on Aberdeenshire farm
October 20, 2018 - Study identifies factors associated with prescription opioid misuse among students
October 20, 2018 - Scientists uncover key regulator of mTORC1 in cancer growth
October 20, 2018 - Pounds Regained After Weight-Loss Op Can Tell Your Doc a Lot
October 20, 2018 - Sending parents letters to fight childhood obesity doesn’t work
October 20, 2018 - Supervised aerobic exercise can support major depression treatment
October 20, 2018 - Mindfulness-based program effective for reducing stress in infertile women
October 20, 2018 - Molecule capable of halting and reverting neurodegeneration caused by Parkinson’s disease identified
October 20, 2018 - Midazolam-mediated alterations of PER2 expression may have functional consequences during myocardial ischemia
October 20, 2018 - Sweat bees are ideal for studying the genes underlying social behavior
October 20, 2018 - Weight loss success associated with brain areas involved in self-control
October 20, 2018 - KHN’s ‘What the Health?’ Republicans’ preexisting political problem
October 20, 2018 - Research provides a more complete picture of suffering caused by terrorist attacks
October 20, 2018 - Eradicating Helicobacter pylori infections may be a key treatment for Parkinson’s disease
October 20, 2018 - Breast Cancer as a Dynamic Disease
October 20, 2018 - University of Pittsburgh wins NSF grant for big data research to prevent complications from anesthesia
October 20, 2018 - Skin-to-skin contact may promote attachment between parents and preterm infants
October 20, 2018 - Recommendations Developed to Verify NGT Placement in Children
October 20, 2018 - Weight loss can be boosted fivefold thanks to novel mental imagery technique
October 20, 2018 - Children with autism are more likely to be overweight, obese
October 20, 2018 - Nurses making conscientious objections to ethically-relevant policies lack support
October 20, 2018 - Prion strain diversity may be greater than previously thought
October 20, 2018 - Antidepressant treatment may lead to improvements in sleep quality of patients with depression
October 20, 2018 - Study reports increased risk of death in children with inflammatory bowel disease
October 20, 2018 - Number of Autism Genes Now Tops 100
October 20, 2018 - Total diet replacement programmes are effective for treating obesity
October 20, 2018 - CLARIOstar used for fluorescence measurements on CSIRO’s purpose-built research vessel
October 20, 2018 - People with more copies of AMY1 gene digest starchy carbohydrates faster
October 20, 2018 - Case Comprehensive Cancer Center wins NIH grant to study health disparities
October 20, 2018 - Newly discovered compound shows potential for treating Parkinson’s disease
October 20, 2018 - High rate of non-adherence to hormonal therapy found among premenopausal early breast cancer patients
October 20, 2018 - Immunotherapy medicine found to be effective in treating uveitis
October 20, 2018 - The Pistoia Alliance Calls for Greater Collaboration to Realise Benefits of Innovation and Announces Winners of the 2018 President’s Startup Challenge
October 20, 2018 - Female internists consistently earn less than men
October 20, 2018 - Stanford team looks at dangers of teens’ vaping habits
October 20, 2018 - New approach to understanding cancers will accelerate development of better treatments
October 20, 2018 - LJI and UC San Diego awarded $ 4.5 million as part of NCI’s Cancer Moonshot initiative
October 20, 2018 - School-based HPV vaccination did not increase risky sexual behaviors among adolescent girls
October 20, 2018 - Eye discovery to pave way for more successful corneal transplants
October 20, 2018 - New analysis examines the importance of location in the opioid crisis
October 20, 2018 - Green filters increase reading speed for children with dyslexia
October 19, 2018 - Bariatric Sx Cuts Macrovascular Complications in Obesity, T2DM
October 19, 2018 - Better assessments for early age-related macular degeneration
October 19, 2018 - Visible and valued: Stanford Medicine’s first-ever LGBTQ+ Forum | News Center
October 19, 2018 - Understanding of metal-free enzymes used by bacteria could lead to new effective antibiotics
October 19, 2018 - Beckman Coulter Life Sciences announces new research-focused website
October 19, 2018 - Study finds link between refined soluble fibers, gut microbiota and liver cancer
October 19, 2018 - Social media reduces risk of depression among seniors with pain
October 19, 2018 - Newly developed synthetic DNA molecule may one day be used as ‘vaccine’ for prostate cancer
October 19, 2018 - Preoperative weight loss may not provide health benefits after surgery
October 19, 2018 - U.S. Birth Rates Continue to Drop as Age of New Moms Rises
October 19, 2018 - New technology can keep an eye on babies’ movements in the womb
October 19, 2018 - Juul e-cigarettes pose addiction risk for young users | News Center
October 19, 2018 - Gene sequencing reveals crucial molecular aspects of Trypanosoma brucei
October 19, 2018 - New DNA vaccine strategy protects mice against lethal challenge by multiple H3N2 viruses
October 19, 2018 - Study shows close link between cytokine interleukin-1ß and obesity-promoted colon cancer
October 19, 2018 - Muscle mass plays a critical role in health, shows research
October 19, 2018 - Study finds undiagnosed prediabetes in many infertile men
October 19, 2018 - The Current issue of “The view from here” is concerned with Nanotherapeutic strategies
October 19, 2018 - Delay in replacing the Pap smear with HPV screening is costing lives
October 19, 2018 - Physicians battle pediatric diseases of ear, nose, throat in Zimbabwe | News Center
October 19, 2018 - Researchers investigate why some cancers affect only young women
October 19, 2018 - Drugmakers funnel millions to lawmakers; a few dozen get $100,000-plus
October 19, 2018 - Unselfish people tend to have more children and receive higher salaries
October 19, 2018 - New findings reveal potential cellular players in tumor microenvironment
October 19, 2018 - Study reveals impact of Juul use on teenagers and young adults
October 19, 2018 - Green leafy vegetables could help reduce macular degeneration risk
October 19, 2018 - Some countries take more time for reimbursement decisions on new cancer drugs
October 19, 2018 - Human brain cell transplant offers insights into neurological conditions
October 19, 2018 - Parental education associated with increased family health care spending
October 19, 2018 - New statistical method estimates long- and short-term risk of recurrence of breast cancer in US women
October 19, 2018 - Father’s exposure to nicotine may cause cognitive deficits in descendants
October 19, 2018 - Could we prevent Alzheimer’s disease by treating herpes?
October 19, 2018 - Nurse-led care can be more successful in managing gout
October 19, 2018 - Trump administration, pharma exchange verbal volleys on drug-price transparency
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