Dear Dr. Roach: I recently saw a friend who had been diagnosed with ALECT2 amyloidosis, a form of chronic kidney disease that is not well-understood but is considered fatal. Her illness was first misdiagnosed. She is in her late 60s and seems to be aging gracefully. She never was a heavy drinker or a substance abuser, and she’s not diabetic. With her kidneys rapidly failing and a transplant not being an option, she is visibly shaken by her diagnosis.
I did online research on the disease, but not much turned up. My friend is Latina of Mexican descent, which is notable only for the fact that her doctor told her the condition is most often diagnosed in populations of Pakistanis, Egyptians and New World Hispanics. According to her, the disease is so rare that there are only about 50 members worldwide in the Facebook community for it.
What’s the deal with ALECT2 amyloidosis? How can I support her through this ordeal?
T.B.
All of the 40 types of amyloidosis are similar in that they deposit proteins outside of the cell. The underlying protein and where the protein is deposited are different with each type. The three most common types are AL amyloidosis, where the underlying protein derives from antibodies; ATTR amyloidosis, where the underlying protein is transthyretin; and AA amyloidosis, where the underlying protein is a cholesterol transport protein. Together, these account for about 95% of amyloidosis patients.
ALECT2 is the abnormal deposition of the protein leukocyte chemotactic factor 2. As you say, the kidney is most often affected by this type of amyloid. Ninety per cent of those with ALECT2 in North America are older adults of Mexican descent, but other populations such as the ones you mentioned may also have this condition.
Along with the kidney, the protein in ALECT2 can also be found in the liver, but it is much less likely to be found in the heart than other forms of amyloidosis. So, the overall survival rate of ALECT2 is better than other forms because amyloidosis of the heart usually has a poor prognosis.
Unfortunately, up to 39% of those with ALECT2 amyloidosis went on to have end-stage kidney disease and dialysis in a two-year follow-up for a Mayo Clinic study, and 6% died. This is significantly less mortality than is expected with other forms of amyloidosis.
Dear Dr. Roach: I’m a 87-year-old male who was diagnosed with an overactive bladder. I’ve tried several over-the-counter medications, and my general physician proscribed tolterodine. Nothing has worked; I’m up four to five times a night, which leaves me very tired the next day. Any suggestions will be appreciated.
D.C.
Before making the diagnosis of an overactive bladder, a physician needs to consider and test for a urine infection. An enlarged prostate can cause similar symptoms, so a careful prostate exam is also indicated. A trial of medicine to relieve the prostate is often given.
Treatment for overactive bladder can include antimuscarinic drugs like tolterodine, which are effective for most, but they can cause intolerable dry mouth for some. A newer class of medicines called beta-3 agonists are about as effective as with fewer side effects.
When the diagnosis is in doubt (when the medicine isn’t working, for example), I refer to a urologist, who has specialized tests available to help make the diagnosis. I have had plenty of cases where the diagnosis of bladder obstruction due to an enlarged prostate has coexisted with an overactive bladder, so both conditions need to be treated to get relief.
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
