To Your Good Health: Uncommon genetic disorder prevents fatty acid metabolization
BY KEITH ROACH, M.D.
DEAR DR. ROACH: I’m a 55-year-old mother of three daughters. I found out through genetic testing that I am a carrier for adrenoleukodystrophy. My middle daughter also is a carrier. She has three children, the last being a male, who was born with ALD. The positive result came too late to save cord blood.
Thanks to the Aidan Jack Seeger Foundation for starting a law requiring newborn screening in New York. Other families of children born with this genetic disease were able to visit my daughter and exchange recipes and support.
Since one of my daughters and I are carriers, should we take care of our fatty acids? Can I expect ALD carrier syndrome, sometimes misdiagnosed as MS? — K.S.
ANSWER: ALD is an uncommon genetic disorder affecting about 1 in 20,000 people. It prevents people from properly metabolizing long-chain fatty acids, which can build up in the brain and other tissues (especially the adrenal gland) and cause a variety of symptoms. The range of symptoms among children with ALD is broad, and they can be misdiagnosed with other neurological conditions. The diagnosis is made by DNA testing.
Boys with ALD often are treated with Lorenzo’s oil, a mixture of dietary fats. If started early, it appears to slow progression of the disease, but a definitive study of effectiveness is underway. A transplantation of stem cells, from umbilical cord blood or from a peripheral stem cell or bone marrow donor, is appropriate for some boys with the disease, such as those with early symptoms and MRI abnormalities.
Women with one copy of the gene (the word “carrier” denotes an absence of symptoms, which unfortunately is not the usual case) generally do not have symptoms until later in life, with less than 20 percent of women under 40 having symptoms but almost 90 percent of women over 60 having symptoms. You are correct that these symptoms can be misdiagnosed as multiple sclerosis. Women may develop neuropathy and muscle symptoms, and often develop fecal incontinence.
I could not find any information on the effectiveness of dietary treatment, such as Lorenzo’s oil, in women. It makes sense that it might help, but since the body makes its own long-chain fatty acids, it is unlikely to prevent progression completely. I am sorry: I wish I had better news to give.
One place to find more information is at www.myelin.org, choosing “ALD” from the “About” menu.
DEAR DR. ROACH: My husband has had the poops bad every day for almost a year now. He has been to three doctors and had a number of tests done, but no one can find out what is wrong with him. Do you have any advice about what could be wrong and how to make the pooping just stop? — D.S.
ANSWER: Diarrhea is something everyone faces, and the number of possible causes is very large. I don’t recommend treatment to stop the diarrhea without knowing what is causing it. When I hear about diarrhea going on this long, I worry about problems with absorption (such as celiac disease). In people with blood or mucus in the diarrhea, I’d consider inflammatory bowel disease and recommend a colonoscopy. In people whose laboratory testing suggests it, the diarrhea might be caused by chronic infection or by a chemical secreted by a tumor, such as carcinoid or Zollinger-Ellison syndrome. This is, figuratively speaking, just the tip of the iceberg.
It does not sound to me as though he has had a proper evaluation; I’d recommend visiting a new gastroenterologist, a specialist in the GI system. Hopefully this doctor will take the time to methodically evaluate his issues and come up with a diagnosis and a treatment plan.