FCS rare disorder caused by lipase loss

DEAR DR. ROACH: Recently I was diagnosed with FCS (familial chylomicronemia syndrome) by my primary physician.

I have extremely high triglycerides and Type 2 diabetes. I have brought my A1C from 10 per cent to 6 per cent, as well as lost 40 pounds and completely changed my way of eating. I also walk.

Despite this, I have numerous bouts of acute pancreatitis every year. I am hospitalized at least every three months.

I am extremely discouraged. During my last bout, my triglycerides were 10,000. Currently they are 1,200. Is there any hope of relief?

ANSWER: Familial chylomicronemia syndrome, also called Type 1a hyperlipoproteinemia, is a very rare disorder of fat metabolism caused by the loss of the enzyme lipoprotein lipase, normally made in the pancreas.

The major symptom is abdominal pain, and bouts of acute pancreatitis (inflammation of the pancreas, a serious disorder) are common. Repeated episodes of pancreatitis can lead to damage to the insulin-producing cells of the pancreas and subsequent diabetes.

I am impressed with your primary physician. This diagnosis frequently is not made or is made incorrectly. It is confirmed with genetic tests.

Unfortunately, there is no current effective drug treatment available for the high cholesterol and high triglycerides of FCS, including statins, fibrates and niacin, due to the loss of the enzyme.

The only effective therapy available right now is a diet that is very low in fat, with almost no simple sugars or alcohol. Fats are taken as a medium-chain triglyceride oil. Medications need to be evaluated.

You have done extremely well in dropping your triglycerides by 90 per cent, and reduced your risk of diabetic complications probably by 75 per cent, but I understand you are still frustrated with persistent bouts of pancreatitis.

Once people have had several bouts of pancreatitis, the damage done to the pancreas puts them at risk for further episodes, even if the underlying cause (triglycerides in your case, alcohol in some other people’s) is under better control.

There was a new treatment possibly on the horizon: a drug approved in Europe, volanesorsen, which is in trials now, and which reduced triglyceride levels by 77 percent in an earlier study. Alas, the Food and Drug Administration recently rejected its application as a new drug.

Also unfortunately, a genetic treatment to replace the LPL enzyme was withdrawn by the manufacturer. Hopefully there still may be a way to get new treatments approved.

You can find out more about this condition at numerous sites, including https://tinyurl.com/chylosyndrome.

Dr. Roach regrets that he is unable to answer individual letters, but will incorporate them in the column whenever possible. Readers may email questions to ToYourGoodHealth @med.cornell.edu or send mail to 628 Virginia Dr., Orlando, FL 32803.