Treatments

Diet is currently the mainstay of treatment of all forms of familial chylomicronemia syndrome.  By severing restricting the amount of fat in the diet, and individual can reduce their chylomicron and triglyceride levels, reducing symptoms and risk of pancreatitis.  With proper diet, splenomegaly resolves, abdominal pain and pancreatitis are greatly reduced, and xanthomas disappear.   Doctors recommend reducing fat intake to 10-15% of total caloric intake, less than 20g per day.  Alcohol increases chylomicrons formation, and thus should thus be avoided as well.  When fat is used in the diet, oils high in medium chain triglycerides are recommended, e.g., coconut oil.  These medium chain triglycerides do not take part in chylomicron formation, and thus cause less exacerbation of symptoms.

These patients require repeated blood tests to assess the impact of diet on the level of triglycerides in the blood.   A dietician or nutritionist can help the patient learn how to adhere and adapt to this restricted diet.  It can be extremely difficult to rigorously follow to such a diet, but education and nutritional support help.  For some individuals, psychological support may be beneficial as well, especially as they and their family members are adapting to the lifestyle changes which accompany the diagnosis.  Due to their fat restricted diet, individuals may not take in enough of the essential fatty acids that all people need for good health, and these may need to be supplemented, along with fat-soluble vitamins such as vitamin A.

Patients are sometimes started on fibrate drugs such as gemfibrozil, which may lower triglyceride levels somewhat in certain patients.  These drugs do not appear to be very effective, however.  Other drugs used in different types of hyperlipidemias, such as statins, have no impact on chylomicron formation or breakdown, and thus are not effective at all in patients with familial chylomicronemia.  Supplementation with high dose omega-3 fatty acids may be somewhat effective, but no studies have specifically examined their impact on the condition.

It is also important for patients to avoid medications that increase triglyceride production.  These include beta-blockers (such as metoprolol), estrogens (such as in contraceptives), thiazide diuretics, retinoids, glucocorticoids, HIV protease inhibitors, and the antidepressant sertraline.  Physicians also need to control and treat other conditions which can potentially make the syndrome worse, including diabetes, renal insufficiency, and hypothyroidism.

Acute pancreatitis from familial chylomicronemia syndrome requires the same treatment as pancreatitis resulting from other causes.  This usually entails taking no food or fluid by mouth, maintaining hydration with intravenous fluids, and treating pain with medications.  Patients with severe acute pancreatitis may require treatment in the intensive care unit to treat possible complications such as shock.

Recently, gene therapy has become a treatment option for some individuals with familial chylomicronemia, though the treatment is not widespread, and is still undergoing evaluation.  Scientists have used a common type of virus, adeno-associated virus, to develop a gene therapy for the treatment of familial chylomicronemia, specifically for those with a deficiency in lipoprotein lipase.  The scientists utilized the virus’s ability to insert itself into host genes.  In this way, they designed a healthy gene that could “hitch a ride” with the virus and insert itself into cells.  These healthy genes can then produce a functional version of lipoprotein lipase, diminishing or eliminating patient symptoms.  Studies at this time have showed an overall clinical improvement with reduced pancreatitis with no major side effects up to two years post administration, but the treatment remains in its early stages.