MTHFR mutation. One in 6 people have it. What to do if you have it?

MTHFR mutations are one of the commonly found mutations in genetic testing. If someone is homozygous (carrying one mutation from your father and one from your mother) for the C677T mutation, it may be associated with increased cardiovascular events (heart attacks, strokes), malignancies and birth defects (spina bifida). This does not mean that if someone has the homozygous mutation that person will have a problem. It means that there may be an increased risk.

MTHFR stands for methylenetetrahydrofolate reductase, an enzyme in the metabolic of folic acid. It is also the name of the gene that codes for that enzyme. People with the homozygous mutation have a defective enzyme and  may have some difficulty with the metabolism of folic acid. At the same time, there may be increased levels of homocysteine in the blood, an amino acid associated with thrombotic problems. 

What to do if someone is homozygous for the C677T mutation? Many people find this after testing in commercially available genetic testing. If this mutation is found, a physician or genetic counselor should be contacted. The most likely next step would be an evaluation of homocysteine levels in blood. If normal, the person should be reassured that its risk for cardiovascular events and other problems is probably similar as the rest of the population. If the levels of homocysteine are high, it does not hurt to try to reduce it by having folate supplements and increased vegetables with the diet.

Marco A. Ramos MD

Is Moderate Alcohol Drinking Good for your Cardiovascular Health?

The answer, of course, is more complicated that everyone thinks. For many years, we have been told, (and as a physician I have told people) that drinking alcohol in moderate amounts is good for the cardiovascular health. This is based on  studies that indeed show a decrease in cardiovascular events (heart attacks, strokes and death) in people who drink alcohol moderately compared to non-drinkers or to heavy drinkers. The basis seemed to be an increase in the HDL “good” cholesterol.

Today, with the availability of genetic testing, scientists have been able to identify a subset of people (15-20% of the population) that may get a huge cardiovascular benefit from drinking alcohol moderately. According to one study, they can reduce the risk up to 80%. What this means is that if someone does not belong to this group, drinking alcohol in moderate amounts probably does nothing to the cardiovascular risk.

What are the potential lessons from this information? The first lesson is that Medicine is an evolving science. As knowledge increases, we physicians will be able to practice better and serve patients better. The second lesson is that individualized care is extremely important. Nowadays we tend to look for “fit-for-all” solutions. The reality is that we are all built differently. 

Marco A. Ramos MD

3 Reasons to Obtain a Second Medical Opinion

Healthcare is complicated. Specially if we are talking about complex situations like chemotherapy, dialysis, surgery or advanced procedures. The decisions made between the doctors and the patient will always involve the body of the patient. 

First, a second medical opinion is a way to reassure the patient regarding the course of action its healthcare is taking. There might be many doubts concerning a proposed surgery, for example. A second medical opinion would provide the patient the peace of mind necessary to minimize anxiety associated to the procedure.

Second, a new opinion rendered by a specialized physician would complement and supplement the information that the patient already has. A problem with the current healthcare system is the lack of time physicians have to provide the necessary data that patients need to make informed decisions

Third, a second medical opinion may broaden the options a patient can have. Specialized physicians looking specifically into the patient’s case can provide new insights withe respect to the case and when doing this, alternative therapies can emerge as possibilities when they were not considered initially.

A second medical opinion is a tool that all patients should consider, specially when the the proposed treatment strategies are complex and involve a certain level of risk for the life or wellbeing of the patient.

Marco A. Ramos MD

The Three Most Common Causes of Kidney Failure

The kidneys are very important organs in the human body. They perform many functions other than just make urine (see my blog post published on October 23, 2014). The kidneys can lose 80-90% of their total function and there could not be any symptom, however, if more than that is lost, dialysis or kidney transplantation are needed in order to survive. So, what causes kidney failure? The list is long, however, the three most important causes are as follows:

The number one reason for people requiring dialysis is diabetes mellitus. 38-45% of all cases of kidney failure are caused by this condition.

The second cause for kidney failure is hypertension (elevated blood pressure). 25-28% of the people who require renal replacement therapy have hypertension as its main mechanism. We have to keep in mind that many diabetics are hypertensives too.

The third cause for kidney failure is glomerular diseases in general. Many of these conditions are autoimmune and have long and complicated names and can only be diagnosed accurately by a kidney biopsy. 10-15% of dialysis cases are from these conditions.

These three causes account for about 85% of all reasons for going into dialysis. There are other situations like genetic conditions,
medication reactions or toxicity from herbal “remedies” that can also cause the kidneys to fail. Since kidney dysfunction rarely produces symptoms until it is too late, it is important to undergo yearly physical examinations that include basic laboratory workup that would detect that the kidney is failing. 

Marco A. Ramos MD

Three Reasons for Electing Private Pay Over Insurance for Outpatient Health Care

Being insured in order to to see your primary doctor or specialty physician has become the norm. Many traditional physician practices will only accept you as a patient if you are enrolled in an insurance plan, either government funded or non-government funded. This has created a change in the relationship between a physician and the patients. In this post, I will show three reasons why patients should seek private pay arrangements with the physicians of their choice. 

1. To keep the decision-making between the doctor and the patient. The moment a doctor is allowed by an insurance company to see  patients who pay premiums to it, that doctor is accepting that there is a third entity that will monitor, question and in many changes change the decisions made by the doctor and the patient in the office encounter. 

2. To assure privacy. Once a patient participates in an insurance plan, the patient is surrendering its private health information to a third party. There will be other individuals, employed or contracted by the insurance company, that will review the medical record for different purposes including quality of care, financial analysis and approval or denial of specific treatments.

3. To not be subject to restrictions and limits in insurance plans. Insurance companies can change their plans. Benefits that were part of the plan might not be present in the amended plan. Most of benefits are partially paid and the remainder has to be paid “out-of pocket” by the patient.

The concept of insurance is to spread the risk amongst a pool of people. The greater the pool, the better spread the risk is and the premiums may be lower. This is necessary when we take into account that hospitalizations, surgeries and prolonged treatments like, for example, dialysis or chemotherapy can be extremely costly. However, for outpatient care, when we deal with preventive medicine or with specialist consultations, it would be probably better to seek models that keep the relationship between a doctor and patient strictly between them.

Marco A. Ramos MD

The Importance of Knowing your Disease Process and its Treatment Options

Health issues can be complicated. Not only the diagnoses can be complex and difficult to understand, but the treatment options can also be overwhelming. This is why an encounter with a physician is extremely important. It can have the effect of making the patient understand fully the condition he or she is going through or, it can have the opposite effect if the encounter is too short or the communication skills are just not there.

The first thing that needs to be understood fully by the patient is the disease process that leads to the situation the patient is on. If the case is cancer, renal failure, or heart failure, there is a unique set of circumstances that led to that situation. What needs to be always remembered is that every person is unique. Everyone of us carries a distinct genetic background and have lived different lives with different nutrition and exercise habits. Unless a person is victim of an accident, the causes for any condition are usually multiple. This is  what doctors mean when they use the term “multifactorial”.

In this information era, many people resort to the internet as their source of information. This is the consequence of the internet being readily available, as opposed to a physician, who is usually difficult to find and when found, the encounter might be short and not yielding the expected answers. The internet can be a good source of information, however, there is so much out there that the wrong conclusions can be drawn easily. The other consequence is to make the patient more confused.

The same happens for the treatment options. A long term therapy such as chemotherapy or dialysis should be a process that the doctor and the patient go in (or not go) together, with the doctor providing guidance, not orders. When the patient lacks the right set of information, the decisions made at a given point in time, can lead to expectations that might seem unrealistic in the eyes of the doctor. 

For a patient, knowing the disease process and its treatment options are crucial elements for good healthcare outcomes and a good physician-patient relationship. When the point in which either or these elements are not achieved, a second medical opinion can be what is needed to achieve the elements and ensure good healer outcomes and solidify the relationship between the patient and his or her doctor.

Marco A. Ramos MD

Can a Doctor be Offended if We Request a Second Medical Opinion?

Unfortunately the answer to that question is yes. Physicians are usually highly driven individuals who dedicate most of their time to their patients. They have studied at least 13 years between medical school (doctorate), residency (post doctorate) and fellowship (post post doctorate). Some of them have 2 or more fellowships or are employed by a famous university. Others are the owners of their own successful practices. For a lot of doctors, the prospect of a second medical opinion is a challenge to their knowledge, a challenge to the “loyalty” that a patient should have. 

What we have to do is always keep things in perspective. The human body that the physician is treating belongs to us, the patients. The patient is the one who would suffer if a mistake is made an the one who would miss the opportunity of a better treatment if the treating physician fails to offer it. The other thing that needs to be kept in perspective is the degree of autonomy that we should have. A physician does not order a treatment. A physician recommends a treatment. The decision to follow the physician’s recommendation belongs to the patient and to follow a recommendation is a measure of trust.

What to do in the event that doubt arises? What happens if we need reassurance about a new treatment or a new diagnosis? What if the treatment or diagnosis is complicated? This is the territory of the second medical opinion. The treating physician would be the one releasing the records to the second medical opinion physician. The best approach, as always is to be transparent and upfront, but always respectful. The second medical opinion is a tool which should strengthen the relationship between the treating physician and the patient. 

The way that healthcare is evolving means that there might be less and less time for physicians to spend with us. This means that there will be less time to explain complicated issues and more second medical opinion consultations. Treating physicians can be offended, but they should not be offended, specially if the process is respectful. Two brains always think better than one.

Marco A. Ramos MD

How to Obtain a Second Medical Opinion?

Obtaining a second medical opinion is very important, specially when the medical problem that a person is dealing with is complicated, chronic or needs aggressive and expensive medical care. The primary care provider and the specialist who sees you or your relative may be very good, but ultimately, the body belongs to you and not only you must be seeking  care, but also making sure it is good care.

Here are some steps that may be followed:

1. If you are thinking about obtaining a second medical opinion, you must make up your mind first. If the last medical visit was left with more questions than answers, or you need reassurance, it is always a good habit to give the physician who saw you a call in order to clarify things. Keep in mind that time is not a luxury of doctors these days, so they might just need more time to talk to you. If after talking to the doctor again, questions remain unanswered, then, there is a good case to look for a second opinion.

2. Once the decision is made, you should contact your insurance company in order to see if second medical opinions are covered by your plan and in case they are, to see what physicians can provide it. 

3. When the options are provided, the physicians’ credentials must be verified. You can look into the specific Specialty Board’s website to check the physician’s background and experience.

4. If the choices do not satisfy you, there can be other physicians available. Look into medical schools, hospitals and friends and family recommendations. Do a thorough internet search and verify credentials. Be prepared to pay out of pocket money in these cases.

5. Once the second opinion is obtained, request a written report. This is important because it will give you a document to refer to and will help you when going back to your original physicians. It can contain valuable information and it can help you and your doctor in the developing of the plan of care.

Although requesting a second medical opinion is a right, some physicians may be offended by the fact that you are doing it. Reassure your physician by saying that this is meant for you to be further educated about your condition and its treatment options.

Marco A. Ramos MD

Take a look at www.smopinions.com

The Importance of Organ Donation

Organ donation is extremely important. Many people are currently in waiting lists for kidney, liver, heart, lung, pancreas and intestine transplants. A significant percentage of these patients, pass away before receiving the transplant.

The situation for every organ is different. While people in need for a kidney transplant or a liver transplant can receive an organ (or part of it) from a living donor (provided that the donor is immunologically compatible with the recipient), the other organs need the donor to be a deceased person. Also, while people with kidney insufficiency can undergo dialysis treatments while waiting for a kidney transplant, the situation is different for the other organs because besides medical treatment, there is no effective way of replacing the organ functions. 

How to become an organ donor? There are a couple of ways. Any person, at the time of registering for an state ID or (renewing it) can register as an organ donor. In addition, there are state organ donation registries, accessible through the internet. It is important to carry a card that can provide consent for a donation of organs in the event of sudden death. Living donation is also possible in the event of a friend or relative needing an organ. There are also “paired donation programs” by which, in the event the donor is not compatible with the intended recipient, there could be a “cross donation” by which an organ will be given to a compatible recipient provided that this recipient has a donor compatible with the first recipient.

There are medical conditions that a living donor must not have in order to qualify to donate an organ . These are HIV disease, diabetes mellitus, malignancies or any chronic infectious problem. Also, the donor must not have any condition that may be worsened by organ donation like, for example, chronic kidney disease.

Finally, it is important to say that for the transplant recipient, the problems are not over after receiving the donated organ. They have to continue with lifelong immunosuppressive therapy which has risks of their own. However, overall, it is a second chance for enjoying life.

For further information visit: www.organdonor.gov

Marco A. Ramos MD

The Importance of Individualized Medical Care

In our days, due to the pressures of the health insurance companies (private and public), the legal system, the physician shortage and academia there is a push towards standardizing the medical care at all levels. This would work well if everyone of us were genetically and culturally equal, with the same responses to infectious agents, dietary habits  and the stresses of life in general. However, as you probably already concluded, this is not the case.

Health insurance companies base their profit models in statistics. They use averages, standard deviations and trends in order to make decisions. An individual with a unique problem, who does not fit in the pattern usually creates some degree of stress in the system that needs time to be solved. In many occasions, neither the physician nor the bureaucrats have the time to actually solve the issues.

The legal system uses the “standard of care” as the standard to compare the practicing behaviors of physicians with at the time of malpractice litigation. Because of this, the practicing patterns of physicians tend to be similar regardless of the patients’ uniqueness. This is one of the characteristics of “defensive” medical practice, which increases the cost of care without necessarily increasing its effectiveness.

The physician shortage has created a situation by which physicians do not have enough time to analyze the situation of a particular patient, specially if the problem is complex. This is one of the reasons, why diagnoses of rare conditions can take longer than they would if the physicians had the necessary time to study the rare and complex cases.

Academia has pushed for the practice of “evidence-based medicine”. While this is a great concept specially at the time of gathering knowledge, it can become a problem if the practitioner applies the conclusions of research to patients who do not fit the inclusion criteria of the same research.

There is no simple fix for the healthcare system as a whole. Individuals have to take responsibility of their own healthcare and use the available resources in order to solve their problems, specially if they are complex. for example,there are the private-pay “concierge” practices. These physicians can offer more time to patients and they would definitely make the patient understand his or her own issues. There are also several second medical opinion services, which can provide access to specialists who can dedicate their time to analyze the patient’s case in detail. These services, I believe, understand better the need for individualized medical care.

Marco A. Ramos MD

Why a Second Medical Opinion?

The doctor-patient encounter has traditionally been a strict relationship between a physician and the patient requesting the services. However, there were always concerns regarding the cost of the services and how accessible the services were. Starting some decades ago, insurance companies (private and government owned) started to participate in the relationship in an effort to make it more efficient. This had the consequence of spreading the risk and making healthcare more available to people. 

As time passed, healthcare became more dependent on the wellbeing of the insurance programs or companies. In order to be able to provide for all enrollees, the reimbursements to the providers started to decrease and, as a consequence of that, the time that the providers give to the patients also started to decrease (because they had to see more patients in less time so as to pay for overheads and remain profitable.) 

The natural result of this is that people remain with more unanswered questions and more doubts regarding their conditions or diseases. In this current world of gigantic leaps in the development of pharmaceuticals, surgical techniques, gene therapy, amongst others, the explanations that professionals (primary care providers and specialists) need to give their patients are complex. Many patients try to enhance their knowledge by using the internet. This is risky. The internet is filled with unreviewed information posted by un-credentialed people who might confuse or even misguide the patient who needs more answers.

A second medical opinion is a tool that will enable patients to be better informed, to be more reassured regarding their conditions and to bring up the possibility of more educated and effective communication with their doctors. For complex problems, two minds are better than one.

Marco A. Ramos MD