Health And Wellness Tips: Did You Know?Oct 1st, 2013 | By Admin | Category: Editorials, Health
There is a hidden heart disease that’s often misdiagnosed, a rare condition called cardiac amyloidosis. It’s caused by the accumulation of amyloid plaque in the heart, similar to the substance that clogs the brains of Alzheimer’s patients. Amyloidosis in the heart is a rare condition affecting an estimated 10,000 Americans. But the true prevalence could be far higher because it is often mistaken for garden-variety heart failure with no known cause. It’s potentially a far more common disorder than it appears to be, especially in African-Americans, who have a four percent likelihood of carrying a genetic mutation for the condition. Other hereditary mutations have been found in those from Finland, Israel, and Portugal. Falk estimates that 10 to 15 percent of African-Americans diagnosed with heart failure have signs of amyloidosis — such as abnormally thick heart walls on an imaging test — and should get a genetic test to see if they have the mutation. The test costs $1,000 but is usually covered by insurance. It’s a disease that’s potentially treatable, but if it’s not caught early enough, it will kill you. One of the patients recently seen at the Mayo Clinic, Maurice Biggs, might have been prevented from facing end-stage heart failure if his doctors in Virginia had considered amyloidosis and performed a genetic test when he showed early signs of heart failure three years ago. The 71-year-old retired Army colonel wasn’t diagnosed with hereditary amyloidosis until this past summer during a routine heart biopsy before a planned surgery. It was too late, however, for him to get a liver transplant to halt production of the amyloid in those with the hereditary form. Amyloid is a misshapen protein that can accumulate in the heart, causing a thickening of the muscle walls and eventually death from heart failure. The abnormal protein is produced in the liver or the bone marrow, but it’s different from beta amyloid, which is involved in Alzheimer’s disease and made from a different abnormal protein. Cardiac amyloid “looks like Jell-O under the microscope. It makes the heart stiff and damages its function.” There are three known types of cardiac amyloidosis: senile, which is linked to aging; familial, caused by a hereditary gene mutation; and the worst, light chain, in which amyloid rapidly clogs the liver, kidneys, and nervous system, affecting an estimated 3,000 Americans. About 10 to 15 percent of patients die within three months of diagnosis. Perhaps one of the biggest reasons cardiologists aren’t eager to investigate amyloidosis as a cause for heart failure is because it has few effective treatments beyond a heart or liver transplant — or a stem cell transplant in cases of the light chain type. There’s currently a race on among pharmaceutical companies to be the first out there with a novel drug for amyloidosis. Such companies may include Cambridge-based Alnylam Pharmaceuticals, which is currently testing a treatment that targets the gene mutation involved in hereditary amyloidosis to prevent the abnormal protein from forming in the liver. Researchers from Boston University Medical Center have been testing a non-steroidal anti-inflammatory drug called diflunisal to see whether it can alleviate nerve problems associated with hereditary amyloidosis. They plan on publishing their results in the next few months. Another promising drug made by Pfizer, called tafamidis, got the thumbs-down from the US Food and Drug Administration last year; the agency asked for more clinical trials to determine whether the drug could effectively halt the paralysis that often makes hereditary amyloidosis, a horrible way to go.