health

Huntington's Disease a Devastating Reality for Some Families

Ask the Doctors by by Eve Glazier, M.D. and Elizabeth Ko, M.D
by Eve Glazier, M.D. and Elizabeth Ko, M.D
Ask the Doctors | November 3rd, 2017

Dear Doctor: My grandmother has a daughter and a son with Huntington's disease, and her husband and a few of her in-laws passed away from it. What can you tell us about this terrible disease? Who in the family could yet develop it?

Dear Reader: "Terrible" is the correct description of Huntington's disease. It's a rare genetic disease -- affecting about 5.7 out of 100,000 people in Europe, Australia and North America -- but it's unrelenting and eventually leads to death.

Almost everyone with Huntington's carries a disease-causing mutated gene on one chromosome and a normal copy on the other chromosome. That means their children have a 50/50 chance of having the mutated chromosome passed down to them. Unfortunately, in Huntington's, the mutated gene is dominant. So, even if a person has only one of the abnormal genes, he or she will develop the disease. So, to answer your question about the potential for other family members, any children of your grandmother's daughter and son with the disease have a 50/50 chance of developing it as well.

In the rare cases in which a person has two copies of the Huntington's gene, he or she will without doubt pass the disease on to all their children. Further, children who get the gene from their father are more likely to develop the disease earlier in life and to experience a more rapid deterioration.

Here's what happens: The mutant gene in Huntington's disease produces an abnormal protein that damages both the nucleus and other components of nerve cells, killing them. The nerve death is especially severe in the area of the brain called the striatum. These changes can be detected via MRI between nine and 20 years before a patient shows symptoms, which typically occur between the ages of 35 and 44.

The first sign of Huntington's disease is an involuntary movement abnormality termed chorea. Initially, this may be perceived as restlessness or lack of coordination. When it worsens, movements become random, jerky and uncontrollable, making it difficult for a person even to hold his or her posture or maintain a sustained motor action such as sticking out the tongue.

Psychiatric symptoms of depression and irritability, which can occur at any time during the disease, may be noticeable even before the onset of chorea. An estimated 33 to 76 percent of patients report anxiety, depression or apathy during the course of their illness. Three to 11 percent report symptoms of psychosis, including hallucinations, delusions and paranoia.

It gets worse. Patients' cognitive abilities are affected as well, leading to difficulty making decisions, multitasking or switching from one mental activity to another. Eventually, the memory problems lead to dementia.

In the latter stages of the disease, people may develop a rigid muscular state similar to Parkinson's. This can lead to the inability to walk. People can also experience weight loss, vision disturbances, and difficulty swallowing and breathing. The progression is prolonged, with death generally occurring 20 years after onset of symptoms.

Although genetic testing can easily diagnose the Huntington's mutation, the availability of such testing is relatively recent. Further, while it can guide decisions about whether or not to have children, it can do nothing to change the current reality. My heart goes out to your grandmother and the rest of your family.

(Send your questions to askthedoctors@mednet.ucla.edu, or write: Ask the Doctors, c/o Media Relations, UCLA Health, 924 Westwood Blvd., Suite 350, Los Angeles, CA, 90095. Owing to the volume of mail, personal replies cannot be provided.)

health

Suspected Link Between PPIs and Kidney Disease Not Certain

Ask the Doctors by by Eve Glazier, M.D. and Elizabeth Ko, M.D
by Eve Glazier, M.D. and Elizabeth Ko, M.D
Ask the Doctors | November 2nd, 2017

Dear Doctor: Proton pump inhibitors, which I take for my severe heartburn, have made my life enjoyable again. Now I'm reading that they may cause kidney damage. How serious is the risk? I really don't want to give them up.

Dear Reader: Severe heartburn, which is the burning sensation behind your breastbone that comes on after a meal, can be debilitating. Caused by the presence of stomach acid, it's an irritation of the lining of the esophagus, the muscular tube that runs between the throat and the stomach.

When things are working properly, a ring of muscle fibers in the lower esophagus prevents the contents of the stomach, including the powerful acids that break down food, from moving back up and damaging tender tissues. This ring of muscles is known as the lower esophageal sphincter, or LES. However, in some people, the closure of the LES is incomplete. This allows the stomach acids to back up into and potentially damage the lining of the esophagus, which is known as reflux.

Proton pump inhibitors, or PPIs, are extremely effective in alleviating chronic and severe heartburn. They reduce stomach acid by blocking the action of an enzyme in the wall of the stomach. But numerous studies have raised serious questions about a potential link between PPIs and kidney disease.

A pair of studies published in 2016 in the Journal of the American Society of Nephrology and JAMA Internal Medicine looked at information collected from tens of thousands of patients in two separate databases. The results backed up the previous research -- that patients taking PPIs were at higher risk of developing kidney disease than individuals who used a different class of drugs, known as H2 blockers, to address the same digestive issues.

In the two 2016 studies, it was found that the risk of developing kidney disease was increased among patients who took PPIs twice daily. Additionally, that risk rose over the first two years of PPI use, according to the results of the studies. The studies addressed only prescription drugs and not over-the-counter PPIs. This is because the data relating to non-prescription PPIs are not readily available.

Although some experts in the field of nephrology now believe these drugs may cause harm in some cases, others suggest that the studies, which are observational rather than clinical, have significant limitations. Additionally, the data pool includes many individuals who are already in poor health. Experts who are taking a more cautious approach suggest this makes a direct connection between PPIs and kidney damage more difficult to prove.

As to your own situation, we think it's important that you make an appointment with your family physician to talk things over. First of all, it's possible that there may be non-medical alternatives to managing your chronic heartburn. Losing weight, eating smaller meals and changing your diet can be surprisingly effective. If it turns out that your physician feels you do require medication, discuss the option of using H2 blockers, medications which also reduce stomach acid. While not quite as effective as PPIs, switching away from PPIs may give you peace of mind.

(Send your questions to askthedoctors@mednet.ucla.edu, or write: Ask the Doctors, c/o Media Relations, UCLA Health, 924 Westwood Blvd., Suite 350, Los Angeles, CA, 90095. Owing to the volume of mail, personal replies cannot be provided.)

health

West Nile Symptoms Often Go Undetected

Ask the Doctors by by Eve Glazier, M.D. and Elizabeth Ko, M.D
by Eve Glazier, M.D. and Elizabeth Ko, M.D
Ask the Doctors | November 1st, 2017

Dear Doctor: Amid all the talk about the Zika virus, I thought we'd stopped worrying about West Nile. Now I see that it's back -- or never left. What are the risks of this? Are they greater than Zika?

Dear Reader: You are correct; West Nile virus continues to be a threat in the United States. Forty-eight states and the District of Columbia have reported cases of West Nile; overall, the U.S. reported 43,937 cases of the virus and 1,911 related deaths between 1999 and 2015. Because many people have only mild symptoms and don't seek medical attention, the actual number of cases is undoubtedly much higher.

The species of West Nile virus in the U.S., which was first detected in New York City in 1999, is believed to have originated in the Middle East. It's transmitted by mosquitos, which starts the disease cycle by infecting birds. There, the virus multiplies within its avian hosts. When another mosquito draws blood from an infected bird, the mosquito then can infect another bird, or a human. Because transmission relies on mosquitos, most cases of West Nile virus occur in the summer and early fall months, when the insects are most plentiful. Humans rarely transfer the virus among themselves; when they do, it's because infected mothers pass the virus to their child in the womb.

The majority of people with West Nile virus infection don't have symptoms; in fact, symptoms are seen in only 20 to 40 percent of cases. Further, early symptoms (fever, muscle aches, headache, fatigue and rash) are not much different from those of many other viruses, so the true cause may go undiagnosed. These symptoms usually last from three to 10 days, but some people report fatigue, muscle aches and difficulty concentrating for up to 30 days or longer after contracting West Nile virus.

In less than 1 percent of people, West Nile virus invades the nervous system. There it can cause inflammation of the brain and surrounding tissues, leading to confusion and even coma or death. The virus can also enter the peripheral nerves, causing muscle paralysis; sometimes, this paralysis involves the respiratory muscles, leaving some people unable to breathe on their own. The death rate when West Nile virus invades the nervous system is 10 percent. Those at higher risk of death from West Nile virus include older adults; people with diabetes, heart disease or chronic hepatitis C; people with a depressed immune system; and people who abuse alcohol.

Patients who survive West Nile virus' assault on the nervous system can have prolonged symptoms. One-third of those with paralysis related to the virus will fail to improve, and if the brain is affected, people can experience significant difficulties with brain function even after a year. One study found that 40 percent of patients reported fatigue and weakness up to eight years after the infection.

As for treatment, anti-viral medications appear to have some effect against West Nile, especially when the drugs are used early in the disease. However, no large human studies have assessed their efficacy. The best way to avoid West Nile virus is by draining areas of standing water or using mosquito repellants.

While other viruses, such as Zika, are understandably worrisome, don't ignore the possibility of infection with West Nile. In the continental United States, Zika transmission is much rarer than West Nile transmission.

(Send your questions to askthedoctors@mednet.ucla.edu, or write: Ask the Doctors, c/o Media Relations, UCLA Health, 924 Westwood Blvd., Suite 350, Los Angeles, CA, 90095. Owing to the volume of mail, personal replies cannot be provided.)

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