Gott: Homocysteinemia can have many causes

Q. My 26-year-old son has been diagnosed with homocysteinemia. It seems that physicians don't know a great deal about this. I know it is a genetic disease that has something to do with amino acids in his blood. The neurologist who confirmed the disease has told us that he has Marfan-like features (my son is 6 feet 7 inches, 160 pounds and has long limbs). He has had an irregular heart rate for many years that fluctuates from 40 into the hundreds. (His cardiologist said a lot of people have this.) His level was 16 at his last blood test. My research states that a normal level is between 3 and 7, but his family doctor (who admits not knowing much about the disease) said 12 could be normal. The neurologist said his count was high.

What is this disease and what complications can it cause? He has already had two hospital admissions with severe pain and no feeling in one leg, which is associated with the disease, but no one seems to be able to give us clear answers as to what to do. What, if any, precautions should he take? What impact will this disease have?

The neurologist warned us that he is at a high risk for stroke, but my research shows many more complications to other organs and ligaments. Can you please provide some information about this disease?

A. Homocysteinemia is an elevation of homocysteine (an amino acid) in the blood. In some cases, genetic mutations may cause it.

People with elevated homocysteine levels are at increased risk of developing blood clots, which can lead to stroke, heart attack, deep-vein thrombosis, pulmonary embolism and more.

I urge that your son be seen by a geneticist for testing to determine whether his homocysteinemia is caused by a genetic mutation. He may also wish to undergo testing for Marfan syndrome while there. (You can read more about this condition in my previous article online at AskDrGottMD.com.) He should be tested for kidney disease, hypothyroidism, clotting abnormalities and abnormal cholesterol levels. If his blood is clotting abnormally, he may benefit from daily aspirin or a prescription anticoagulant medication, such as warfarin, to reduce the possibility of developing an errant clot. If his cholesterol is elevated, he may require treatment. Niacin, flaxseed oil, omega-3 oils, and plant sterols and stanols are good over-the-counter options. Prescriptions include statins, selective cholesterol absorption inhibitors and others.

© 2011, United Feature Syndicate, Inc.