Newsletter 05/11/18 – Getting Comfortable in your Genes?

To My Patients and Friends,

This week’s medical news touches on some important topics, including genetic testing in patients diagnosed with breast cancer, prevention of a common form of liver disease, a surprisingly simple way to reduce stroke risk in patients with certain vitamin deficiencies, and a potentially life-changing blood test… so happy reading!

What it means to know your genes

Current genetic screening guidelines for patients diagnosed with breast cancer may be inadequate and more breast cancer patients should undergo genetic testing, according to researchers at the Mayo Clinic.  For women diagnosed with breast cancer, the time leading up to treatment presents an opportunity to better their understand genetic risk and therefore to make more fully-informed treatment decisions.  Additionally, genetic testing can provide valuable information for family members who may be affected.  Although testing may not be warranted in every case, all patients should feel comfortable inquiring as to whether they might benefit from genetic screening at the time they are diagnosed.

Genetics will play an increasingly critical role in healthcare as the science- and the marketplace- evolve.  It used to be that genetic testing was only accessible via complex means and/or with the assistance of a cancer specialist, but a number of easier options now exist for those who choose to take the leap.  However, before pursuing genetic tests designed to look for disease predispositions, I recommend that you consult with your physician (or a hospital-based or private Certified Genetics Counselor) in order to consider the implications, as they are potentially significant.  Carrying a gene that is associated with a particular illness does not mean that the illness is inevitable (or even likely), but it can lead to excessive worry; on the other hand, the information can justify a more proactive prevention or screening strategy.  Other genetic panels can help to decide which medications may be right for you, or even which dietary pattern may be most beneficial.  Lots to think about, and more to come from this rapidly expanding space.  Disclaimer- no particular commercial entities are endorsed here; examples are provided only for reference.

Should you be taking folic acid to reduce your stroke risk?

A new study published in the Journal of the American College of Cardiology found that certain patients with high blood pressure may reduce their stroke risk by up to 21% by merely taking a daily folic acid supplement.  This finding is most relevant for patients who meet specific criteria- namely, an elevated blood level of an amino acid called homocysteine, and a relatively low number of platelets (elements in the blood that are involved with clotting).  For some, these abnormalities can be due to problems with digestion or nutritional deficiencies; however, very common gene variations can also lead to elevated homocysteine levels.  Either way, a daily supplement may go a long way.  So if you have hypertension or other cardiovascular risk factors, speak with your physician about checking a platelet count along with homocysteine, folic acid and vitamin B12 levels (as vitamin B12 deficiency can also cause elevated homocysteine in the blood).

Nobody knows quite what to do with this information, but it sure seems important

You may have heard of a simple blood test called B-type natriuretic peptide (or BNP), which has traditionally been used by physicians to help determine if a patient is suffering from congestive heart failure (CHF).  In a large study just published in the Journal of the American College of Cardiology, it was found that a high blood level of BNP is a stronger predictor of mortality than other traditional risk factors, even in the absence of heart failure.  This may turn out to be very important, although we’re only on the cusp of understanding the implications.  But it seems to make sense that, for patients who have an elevated blood level of BNP, a more vigilant approach is warranted.  Does this mean that everyone should have their BNP level checked?  Certainly not.  But for anyone who may be at increased risk for CHF, (common risk factors include high blood pressure, coronary artery disease, obesity, heart rhythm abnormalities, diabetes, certain medications, sleep apnea and congenital heart defects), a periodic BNP blood test may be worth considering (with appropriate follow-up cardiac testing if it’s elevated).

Be a liver lover

There’s more news about the negative impacts of dietary red meat on our health… this time it’s related to the liver.  According to findings recently presented at the International Liver Conference in Amsterdam, eating red meat increases our risk for developing nonalcoholic fatty liver disease (NAFLD), a common but serious condition which is associated with cirrhosis and liver cancer, heart disease and diabetes.  This is yet another important health-related reason to choose alternatives to red meat when possible.  In the words of Hippocrates, “Let food be thy medicine and medicine be thy food.”

Be kind to your kidneys

The incidence of kidneys stones has increased by 70% over the last few decades.  Although we are uncertain as to why this is, a recent study from the Journal of the American Society Nephrology suggests that the use of oral antibiotics may be playing a key role.  Although the connection is clear based on the data from this study, the underlying mechanism remains unknown.  However, the researchers speculate that the link may be explained by the negative impact of oral antibiotics upon our gut microbiome (the population of “good” bacteria that live in our intestinal tract and play critical roles in regulating numerous bodily systems).  Regardless, we are already aware of the numerous deleterious effects of the overuse of antibiotics (including the development of bacterial resistance and “superinfections”), so here is just one more reason to avoid taking an antibiotic when it’s not truly necessary (for instance, for a viral head or chest cold).

At the heart of the matter for women

In a joint advisory from the American Heart Association (AHA) and the American College of Obstetricians and Gynecologists (ACOG), we need to more effectively reduce cardiovascular risk in women.  Cardiovascular diseases (including heart attacks and strokes) remain the number one killer for both men and women in the U.S.  But traditional risk factors- such as hypertension, diabetes, high cholesterol and obesity- can affect men and women differently.  Some facts:

  • diabetes carries a greater cardiovascular risk for women than for men
  • more women over age 65 have hypertension than men, yet fewer of these women get adequate blood pressure management
  • obese women have a higher risk of coronary artery disease than men; women’s hearts are affected by stress and depression to a greater degree than in men
  • smoking is a greater risk factor for heart disease in women than in men
  • low levels of estrogen after menopause pose a risk factor for developing atherosclerosis in the smaller blood vessels
  • within a year of a first heart attack, survival rates are lower in women than in men, and women are older than men at the time of their first heart attack.

Notably, more than 90% of women have at least one risk factor for cardiovascular disease.  So talk to your OB-GYNs and primary care physicians (and more importantly, make sure they talk to each other) about comprehensive cardiovascular disease prevention.

That’s it for now.  Stay healthy, and have a nice weekend!