The Medical News Report #45

October, 2015

www.themedicalnewsreport.com

samlamonte@yahoo.com

Welcome to FALL FEST, October 17, our signature Sky Valley fall event! Call City Hall for more info-706-746-2204. Free Admission. Car show, crafts, Bouncy House for the kids,waterfall tours, fire engine rides for kids, scarecrow row, and hay bale trail!

Just out!-the NIH (Nat’l Institutes of Health) has reversed its recommendation for maintaining a systolic BP of 140 mm to the lower value of 120 mm for people over 50 yrs. of age. At a systolic of 120mm, the cardiovascular mortality was reduced by one thirdcompared to a systolic of 140mm!!  I previously reported that for those over age 60, 150/90 was considered safer because of the risk of dizziness and falls from too aggressive BP lowering.  Check with your doctor, as these conflicting recommendations need individual consideration. NIH News Release

One more thing! I had a skin cancer (squamous cell carcinoma) removed from my lower leg and incidentally they found a suspicious pigmented spot above my elbow. It was an early melanoma. The message= see a dermatologist every year for a complete skin exam. Do it!!! There is no telling how advanced that melanoma would have gotten if I had not seen my dermatologist. My pigmented spot was not near as obvious as these more advanced melanomas seen below.

 

Remember the ABCDs in being suspicious of a Melanoma!

Sunscreen stinks, skin cancer stinks more!!

For an extensive discussion of melanoma and other skin cancers click on: Medical News Report #5, #10, #16, #19

Subjects for the October Report:

1.Gender Dysphoria— diagnosis, the psychology, and what it takes to transition-trans-sexual assignment surgery

2. The Obesity Series—Part 3—the Pathophysiology of the disease-Hunger Hormones (The stomach is an endocrine organ)

3. Deep Vein Thrombosis (DVT)--Part 1

4. Alzheimer’s Disease-diagnosis and current treatment

1. Gender Dysphoria/Transgender

Regardless of your personal opinion, it is still valuable to understand the health issues of sexual minorities.

The entire LGBT community (lesbian, gay, bisexual, transgender) has significant health issues, both mental and physical. This month, I report on transgender people and next month, I will report on the health issues of the LGBT community.

Definitions

Transgender refers to a person who does not identify with their biologically assigned sex. Transsexual refers to a person who has undergone sexual reassignment. A transvestite implies a cross dresser. Gender dysphoria refers toa person dealing with the difficulties of wanting to become the sex that the individual prefers to be. The people suffer tremendously because of this dilemma. This is the term the medical community prefers to use and there are actual ICD-9 codes for this for the physician to turn into the insurance companies for coverage. Transgender crosses all races, color, creed, and socioeconomic statuses.

  

Bruce “Caitlyn” Jenner—He has now had a California Supreme Court Judge rule that he is now legally a female, which allows “her” to have all identification, applications, and legal documents designated as a female.

   

I am sure many of you saw Diane Sawyer’s interview on ABC with Jenner.  Transgenders are now protected by federal laws and civil rights. She (Caitlyn) has not had sexual reassignment surgery yet, but it is pretty clear she is headed for this in the next year. In the meantime she is making a ton of cash on her own TV series. Not everyone in this community is thrilled with her, but it has accomplished its goal of bringing this issue into the public eye.

As a Clinical Associate Professor in the Dept. of ENT-Facial Plastic/Head and Neck surgery at the LSU Medical Center in New Orleans, Charity Hospital had a unique opportunity for local residents to have cosmetic surgery at no cost (except outpatient fee). This provided an large number of patients for the residents to operate on with careful supervision by the staff like myself. Although most of our patients were Charity Hospital nurses, another source came from a very famous bar on Bourbon Street called the Gunga Den, a transvestite bar who was famous for elaborate floor shows and beautiful “girls”. Most of the boys sought feminizing nose jobs, cheek and chin implants, chin shaves, liposuction, breast implants, “Adam’s Apple” shaves. This was in the 1980s.We did not question their motivation, but it was pretty clear most of them wanted to become the opposite sex.

     

Examples of Adam’s Apple shaving, rhinoplasty (nose), and breast augmentation in transgender patients.

     

     

Christine Jorgensen made news regarding this subject in 1952. Renee’ Richards, the tennis player, did in the early 80s, but as an open topic, it has exploded with Bruce Jenner’s notoriety with the infamous Kardashians.

Don’t think these transgender surgeries can’t fool the average person. With proper hair style and makeup, these “girls” are very beautiful. The sexual genitalia surgery has just become popular over the past couple of decades.

For years, all of the transgenders were thought to be gay. However, although a significant percentage of these people are gay, many do not declare themselves to be such. Preference for having sex and transgender are different.The research is not sufficient to define this as a hereditary or genetic mutation condition.

These people are serious about their transition. One study stated that 1 in 100 Americans have gender identity issues. A review of articles on this subject appears to lend credence that there may be some biologic basis for gender dysphoria. These young people really feel that they were born with the wrong sex genetically and it is contrary to their sexual preference personally.

Since the medical community has defined this as a disorder, it essentially opened the door for the VA, Medicaid, and Obamacare recipients to be evaluated and treated including having surgery covered by insurance. 

As transgender issues exploded, it opened up a whole new field of medicine—Transgender Medicine. Psychiatrists, psychologists, gynecologists, urologists, and plastic surgeons were the first on the scene in this phenomenon. Cosmetic genital surgery has become common place for transgender patients. It is also common with straight people as well. That is another subject.

Children as early as 5 years of age may desire to dress as the opposite sex, and were thought to be “so cute” by their families, but there was a subset who were very serious about wanting to “switch”. Most transgender people begin mentally dealing with this before puberty begins. It is the same issue that gay and lesbians begin to deal with….realizing they are attracted the same sex. It is a real identity crisis, which creates severe psychological problems.

Sexual reassignment surgery has become commonplace. A clinic in San Diego saw a 200% increase in surgeries between 2012 and 2013. There is large clinic at the University of California at San Francisco. You can google

this subject at that university if you really want more details. These surgeries in the UK have quadrupled in just the last 10 years. The liberalism of the world has opened the doors and closets!

Gay Muslim men by the hundreds are seeking sexual reassignment and cosmetic surgeries to hide their actual sexual identity to prevent them from facing death due to strict Sharia laws. Declaring one is gay is subject to the death penalty in those countries.

Transgender people have sex with those they are attracted to, not necessarily who they identify with. There is an increased risk of STDs (sexually transmitted diseases) because of the numbers of sexual encounters. I will begin a series on STDs also next month.

Some transgender people will stay in a marriage and keep it under wraps, but many divorce as Jenner did.

This condition is uncommon, at least by stats accumulated so far. 1/71 to 1/200 in male adults and 1/333 to 1/500 females are considered gender dysphoric, whether they act on their desires or not. Until U.S. Census Bureau includes this identity (it won’t be long), we will not know how many people are transgender by choice.

Gender management clinics have popped up all over the world with more social acceptance and popularity.

Many of these patients come forward and request that puberty be delayed to prevent obvious secondary sexual characteristics from becoming obvious. Hormones of the opposite sex can prevent puberty. Drugs such as leuprolide are used to delay these secondary sexual characteristics.

Most children who disavow their sexual appearance are actually normal. Playing with dolls as a male child does not mean they are “queer” or strange. Tomboys are common, but there is a percentage that decide they want to switch genders, and about 20% become transgender eventually.  The stronger gender dysphoric a child is, the more likely they are to become transgender. They are more likely to voice their feelings if their families support them with this issue. If they support the issue, it is much easier on the person even though the family suffers a great deal until they reconcile with the issue.

The Win Institute at UCLA estimate there are 700,000 people in the U.S. that are gender dysphoric. The World Professional Association for Transgender Health provides information and referrals for expert help. Androgens for females and estrogens for males will alter the human body in the desired direction. It may take as long as 5 years of hormone manipulation to create the desired body changes (i.e. A-cup for breasts take about 2-3 years).

There are side effects from taking alternate sex hormones to consider such as hypertension, weight gain, obstructive sleep apnea, abnormal liver enzymes, blood clots, etc.

Only 25% of the transgender people seek genital reassignment surgery. The patient must be on hormones for at least 1 year and preferably under counseling to qualify for transition. To transition (remove gonads, create vaginas using scrotal skin, enhance the clitoris, penile creation using free microvascular tissue transplants, breast implants, mastectomies, etc.) may require several surgeries and refinements before a successful result is attained. These transgender procedures aremuch more common for males who want to transform to a female outward appearance, and they are easier and more successful.

If you are interested in the details watch these surgical videos-click on:

www.youtube.com/watch?v=sB1cWPDUMLM  (phalloplasty)

https://www.youtube.com/watch?v=Y1vKT4JEcDc (vaginoplasty)

The vaginoplasty uses the outer skin of the penis inverted with blood vessels and nerves for blood supply and sensation from the groin.

A phalloplasty utilizes a musculocutaneous (muscle and skin) microvascular flap from the latissimus dorsi muscle from the back of the patient.As the drawing below shows, a microvascular flap is taken from the forearm or back. The vessels are connected to nearby vessels for vitality and some sensation. How functional these gender surgeries are is hard to get reliable data on, but dilation of a new vagina or placement of a penile prosthesis is part of the process. For these patients, looking like the sex they prefer to be is the most important issue.

  

Outward appearance of transgender surgery in the best case scenario!

Do many regret these transgender procedures? The stats I read say only 1/100 regret their transition surgery. 

The medical criteria for a diagnosis of transgender include:

1) symptoms for at least 6 months, 2) consistently say they declare they are the opposite sex, 3) strongly prefer friends of the sex with which they identify, 4) reject clothing, toys, or games typical for their sex, 5) refuse to urinate standing or sitting depending on their sexual preference 6) want to get rid of their sex organs and or have their genitals altered, 7) even if they look male or female, they state they intend to grow up the opposite sex, 8) extreme distress about body changes during puberty, 9) as a teen feel their true gender is not aligned with their body appearance, 10) show disgust for their genitals, 11) avoid showering, changing clothes, or having sex in order to avoid seeing or touching their genitals.

It is estimated that 71% have a mental health condition and should be counseled and treated…48% in the UK and 41% in the U.S. who are transgender attempt suicide. Discrimination and poverty are commonplace and yet these people “come out” anyway.

In no more than 20% of children who exhibit signs of dysphoria will persist into puberty. In other words, don’t freak out as a parent if your child is demonstrating some of these traits.

There are risks for anyone who follows alternative life styles including bullying, discrimination, suicide, and employment bias, and poverty.

It is estimated that of the 2.1 million military, 12,000 are transgender. The VA is currently paying for hormonal therapy, mental healthcare, pre- and post-operative long term follow up including sexual reassignment surgery.

President Obama recently assigned a transgender person to the White House Staff to show support for this issue.

There are many issues such asbathroom rights in public places, gyms, prisons, and schools. Participating in male and female competitive sports will be challenged. This will revolutionize public facilities just as it did to provide access for the disabled person.

There is already a movement to strike the names male and female from the books. What a world!

  

(The National Center for Transgender Equality).

The Tampa Police are now required to take sensitivity classes regarding how they are to handle these people. I am sure the government will create a whole new set of rules for these minorities.

Reference—The National Center for Transgender Equality

For much more info on transgender visit The University of California at San Francisco at: http://www.transhealth.ucsf.edu/trans?page=protocol-00-00

Next month, I will continue with the most common alternative lifestyles—gay, lesbian, and bisexual and their health issues.

  

Renee Richards (circa 1980)—professional tennis player

 

Chaz Bono (Cher’s daughter)

Top Model

2. The Obesity Series—Part 3---The Pathophysiology of Obesity—a complex mechanism-- “hunger” hormones

Weight categories for BMI

Being obese is overcoming being overweight in the U.S. with 35% of Americans being obese.

The pathophysiology of obesity involves a large number of chemicals that influence every aspect of why we are hungry and why we are satisfied.

I have already explained the genetic connection to obesity. The FTO mutant gene has the greatest association with obesity by suppressing thermogenesis (fat burning of the fat cell). There are also many environmental factors, which I have previously discussed.

Hormonal influence is more important than once thought. The stomach and the fat cells (adipocytes) are endocrine organs by definition and produce pro-inflammatory chemicals that are part of the reason why overweight patients have a 2-fold risk of certain cancers (discussed in December 2015), increased diabetes, and cardiovascular disease.

The pro-inflammatory products include interleukin cytokines, tumor necrosis factor, and chemo-attracting protein (MCP-1). These are well known for playing a significant role in many diseases.

Other products that play a role are chemicals that influence cardiovascular disease, blood clotting, appetite regulation, influence whether fat cells store fatty acids or burn them up, and insulin sensitivity. These discoveries have led to understanding why obesity is so harmful.

The main “hunger” hormones are leptin and ghrelin Ghrelin is produced by certain areas of the stomach and is the chief hunger hormone.

Leptin also is secreted by the stomach but also by skeletal muscle and the placenta. It is one of the main regulators of appetite through regulation in the hypothalamus (brain) and limbic center of satiety.  It is known that obese individuals are leptin-resistant much like diabetics are insulin resistant, and therefore they do not feel satisfied when eating normal amounts of food.

The other hormones include glucagon-like peptide (GLP-1), neuropeptides, melanocortin, cholecystokinin, and pancreatic amylin all are satiety (satisfaction) hormones. These make you feel full. Developing medications that regulate these hormones will be a welcome addition in treating this disorder. In the meantime, when we feel the slightest bit full, we need to stop eating.

Eating Disorders

There is an eating disorder called “night-eating syndrome” that is characterized by insomnia, excessive hunger at night and not hungry during the day. The levels of melanin and leptin are lower and the circadian levels of cortisol are higher causing these patients to wake up and find themselves quite hungry, hitting the “frig” each time they wake up increasing their intake by 52% per day.

It is the balance of these hormones that will determine overstimulation of hunger or being satisfied. There will always be an emotional component and motivation to recalibrate this process. This is the main problem with the most common eating disorder.  I lost 25 pounds over the past 9 months (I gained 5 back), and found it easier to lose with time, but it still took discipline. Medications that could manipulate these hormones in the management of this disease will enhance our ability to be successful in weight control, but it will always come down to desire to lose and the discipline to stick to a program of reasonable weight loss over time.

The main eating disorders include bulimia, anorexia nervosa, and binge eating. Binge eating is characterized by overeating with lack of control for the amount, purging, excessive physical activity, or fasting. This usually appears in the teen years. In males, body dysmorphia is not uncommon seeing themselves as smaller than they really are. They pump iron to increase muscle mass. Eating by oneself is a hint that binging might be a problem. These people are often obese and filled with guilt and shame about binge eating. Cognitive psychotherapy is the hallmark of treatment trying to reverse their behavior.

Odor aromas (intensity of smell) detection plays a role as well. Increased insulin in the body actually can decrease the smell capacity potentially reducing the reward for eating.

Next month, I will discuss the organ diseases that are at an increased risk with being overweight or obese.

You can search the Mayo Clinic for eating disorders.

Click on www.nationaleatingdisorders.org/ for help and a helpline.

 

 

3. Blood Clots from Leg Veins—Part 1-blood clotting and deep vein thrombosis (DVT)

Here is an outline for the next 2 months regarding DVT and pulmonary embolism.

Part 1-This month:

1. Why does our blood abnormally clot?  What makes our blood clot?

2. What factors increase our risk of forming an abnormal blood clot?

3. What are the early signs of developing a clot in the lower extremity? What signs and symptoms are present when a blood clot moves from th e lower leg to the lungs?

4. What studies are used to diagnose DVTs?

Part 2-Next Month:

5. What is anpulmonary embolism, how is it diagnosed and treated?

6. What can a patient do to prevent future blood clots?

Blood clotting-normal and abnormal!

  

Representation of mild clotting and a larger clot in the leg! Normal clotting (coagulation) of blood is vital to maintain life. The blood contains red cells, white cells, and platelets.The platelets are circulating cells that provide normal and abnormal clotting.

When a leak in a vessel occurs from trauma, a cascade of blood factors must be activated to stop bleeding by forming a semisolid gel (clot) at the site of bleeding. If that occurs in the lower leg deep veins, it can dislodge and form an embolus, which will move to the lungs.

The mechanism of coagulation starts with blood coming into contact with damage to the endothelium (lining) of a blood vessel. This damage immediately causes the initiation of 2 components: a) platelet activation b) protein activation of a tissue activator just under the lining activating Factor VII, which ultimately leads to fibrin formation through a cascade of factors. Platelets clump together and with the tissue factor activation forms a plug at the site of the injury.

Platelets are constantly circulating in the blood, so they are ready to go to work in an instant. This is a summary of the clotting pathway for those inquiring minds:

Coagulation tests are based on these factors, such as the prothrombin time (PT/INR), which is used to follow the level of anticoagulation when usingCoumadin. Vitamin K is stored in the liver and can reverse the effects of Coumadin.

 Other tests you may be familiar with are the partial thromboplastin time, and the bleeding time. These can be tested prior to surgery to be sure a patient will not have an abnormal risk of bleeding. The platelet count (normal is 150,000-400,000) can measure that adequate numbers of platelets are present to create a clot (hemostasis).

Deficiencies of platelets and clotting factors will be discussed when I discuss diseases such as hemophilia, thrombocytopenia, Christmas disease, and the blood malignancies that interfere with the clotting mechanism.

The next step is to understand a normal clot from one that can form in a vessel abnormally and clog the flow of blood. This abnormal clot is called thrombosis!

Thrombosis from veins and arteries

Thrombosis of a veinmost commonly occurs in the deep veins of the leg (DVT-deep vein thrombosis). 500,000 Americans have this DVT per year.  This can occur due to gravity, pooling of blood in thelower extremities (lack of activity, prolonged sitting with the leg bent or crossed) blocking normal venous flow. Thrombosis can occur in any vein and if it dislodges, that clot as it travels to another location is called an embolus.

Thrombosis occurs in arteries also(coronary, carotid, and cerebral thrombosis). I have previously reported on arterial thromboses and can be found in the subject index on my website. I am excluding arterial thromboses in this series.

Deep vein thrombosismay not create anyearly signs in as many as 50% of the cases. Patients may not have pain or obvious swelling of the calf initially. There may or may not warmth in the calf.

Superficial varicose veins can clot off too and lead to phlebitis, but rarely dislodge and create an embolus. This photo below is an example of superficial thrombophlebitis. This can be confused with lymphangitis (inflammation of a lymph vessel) usually from an infection on an extremity. Phlebitis implies inflammation and usually causes visible redness. 

Superficial thrombophlebitis

 

Below, in DVT, notice that the right calf is larger than the left one. This may be the only evidence externally of a blood clot in a deep leg vein.  The doctor may squeeze the calf to elicit pain(a positive Homan’s sign), but it is only valuable some of the time. Pain, swelling, pressure, or a fullness sensation all may be symptoms of a DVT. Discoloration may also be present.

  

Doppler ultrasound to diagnose a clot in the leg vein.

The D-dimer test is a blood test to confirm an abnormal clot somewhere in the body. It measures a substance (fibrin fragment) that is released by a clot in DVT, an embolus, or in a stroke. It is helpful in diagnosing or ruling out a clot. If there is a positive D-dimer test, other tests such as an ultrasound, CT, or angiogram may be ordered to define where the clot is located.

This photo demonstrates a clot in a deep leg vein using enhanced ultrasound. The clot is just above the red flowing blood blocking about half the vessel lumen.

 

    

These are classic varicose veins in the superficial venous system. The drawing shows the deep and superficial venous system of the leg. There are communicating vessels between the 2 systems with valves to prevent backflow. Varicosities indicate those valves are faulty.

There is an increased risk of thrombosis in the following people:1) cancer patients2) older Americans  3) those on bed rest  4) smokers  5) those who sit for long periods of time at work  6) those who are overweight or obese  7) pregnant women  8) those on estrogen8) have heart failure 9) suffer inflammatory bowel disease10) and  varicose veins.

Treatment

Superficial thrombophlebitis is treated with warm compresses, leg compression with hosiery, and anti-inflammatory medication such as ibuprofen or Aleve.

Deep vein thrombosisrequires anticoagulation to lessen the clot and prevent an embolus. I will discuss all the anticoagulants in the future. Plavix, Xarelto, Eliquis, etc. with aspirin may be recommended in less serious cases. If hospitalization is necessary and a pulmonary embolism is diagnosed, IV heparin usually is prescribed since it is effective immediately. This is usually followed in a few days by oral Coumadin depending on how the patient is progressing. Today, the new oral anticoagulants such as those mentioned above may be used instead of Coumadin.

Prevention of lower extremity thrombosesincludes not sitting for prolonged times, not crossing the legs, taking breaks when driving long distance. Wearing compression stockings, taking aspirin, and monitoring the legs for subtle changes are very necessary. Deep vein thrombosis recurrences are not uncommon.

Asyndrome may follow having deep vein thrombosis called post-phlebitic syndrome, characterized by continued swelling of the leg, leg pain, skin discoloration, and leg ulcers from continued poor circulation.

Next month, I will discuss pulmonary emboli, which is a serious life threatening disease. A discussion of all the new anticoagulants will require a separate discussion the following month.

 

4.Alzheimer’s Disease (AD)—current status

Two friends of mine (and many of our reader’s) were lost to this disease this past month (George and Richard). There are many diseases that are just plain mean, but I cannot think of an aging disease worse than Alzheimer’s disease.

I wish there was a cure right around the corner, but we are making great strides in coming closer to understanding this disease, the risk factors, and eventually treatments thatcan slow and eventually prevent the progression of this degenerative disease.

This disease is currently costing the taxpayer $200 Billiona year to diagnose and treat some of the symptoms and consequences of it. With the aging of our society, this disease will continue to escalate in numbers.

 

The different types of dementia:

1. Alzheimer’s disease-60-80% of all dementia cases. Hereditary incidence is rare!

2. Vascular dementia(10% of cases) as a result of multiple minor strokes that account for about 10% of dementia. Impaired judgement from the beginning is much more common in this type of dementia. Of course, there is overlap in some patients.

3. Dementia with Lewy Bodiesbegins with sleep difficulties, visual hallucinations and some of the body movements similar to Parkinson’s disease.

4. Mixed—more common than previously thought.

5. Parkinson’s disease(I will report on this disease in the future).

6. Frontotemporal dementia includes a group of dementias that include primary progressive aphasia with marked personality changes and difficulty with speech.

7. Others: Creukfeldt-Jacob disease (mad cow disease-rapidly fatal), Huntington’s disease-hereditary, Korsakoff syndrome (alcohol abuse with thiamine deficiency), and normal pressure hydrocephalus. These are discussed under the Alzheimer’s Association website.

 

Classic brain changes in AD

AD causes shrinkage of the cerebral cortexespecially the hippocampus, with enlargement of the brainventricles. The hippocampus is a small area in the temporal lobe of the cortex. It is part of the limbic system which regulates emotion and is the main area involved with long term memory.

  

The ventricles are the passages for cerebrospinal fluid. Transmission of information from one part of the brain to another is an enormously complex process. When that process is interrupted, neurological symptoms are the result.

 

Here are a few sobering facts about AD:

Although it is known there is considerable degeneration in certain parts of the brain, it is not known what causes AD. Not long ago, it was called senile dementia, but today it is known as AD. This is not normal aging of the brain or atherosclerosis of the aging brain. It is a degenerative brain disease of unknown cause. It is becoming more commonly diagnosed as our understanding of the disease is understood and the known fact that the country is aging. Even though this comes on in the 60s, there is an early stage AD, which has some hereditary implications.

 

Diagnosis of AD

AD is diagnosed analyzing the clinical history and physical exam. Special tests can confirm the possibility of AD. AD causes memory loss, difficulty thinking, and behavior abnormalities.How do we differentiate normal aging issues from AD?

The Alzheimer’s Association states there are 10 warning signs for AD:

1.  Memory loss that interrupts daily life especially recent memory. Patients begin to rely on reminders, electronic memory aids and others and may complain of memory problems but only if asked.

2. Challenges in making plans or solving problems. Working with numbers and electronic media can become difficult. Difficulty concentrating is increasingly difficult.

3. Difficulty in performing familiar tasks, following recipes, driving to a familiar location, or remembering the rules of a familiar game.

4. Confusion with time or place; difficulty with knowing where they are or how they got there. Getting lost!

5. Trouble understanding visual images and spatial relationships. There can be difficulty with reading, judging distances, or recognizing colors and contrasts.

6. Trouble with new words and phrases; difficulty carrying on a conversation, difficulty with writing; difficulty finding the right words.

7. Misplacing things and not remembering how to retrace their steps to find things. Start accusing people of stealing their personal clothing or valuables is common.

8. Decreased or poor judgement.

9. Withdrawal from work, social or recreational activities.

10. Confusion, depression, suspiciousness; becoming irritable when a routine is broken; anxious or confused when out of their comfort zone; easily provoked when anxious or confused.

VERY IMPORTANT! For friends to notice these abnormalities may require close contact with these individuals over a considerable period of time. Most acquaintances would not be able to measure the severity of symptoms and “would swear they are just fine”.  No one can experience what is really going on or understand how severe a patient with AD is without living day to day with them. It is human nature to under-estimate the severity of someone’s problem especially if they are emotionally attached to them, especially if they only see them from time to time. How each and every AD patient progresses is quite individual. The patient will likely underestimate their cognitive trouble unless directly asked.

Caregivers experience the horrible truth of watching someone lose what most of us take for granted. 

Many doctors are unwilling to give their patient a diagnosis of AD. Only 40% of patients report they were given the diagnosis of AD. It is up to the relatives and caregivers to SEEK a consultation with a neurologist, psychiatrist, psychologist, or geriatrician, to begin the process of diagnosing AD.

Pathophysiology

  Many have heard about the protein beta amyloid. This is a breakdown product of protein. Have you heard of the protein tau? These two polypeptides (proteins) are thought to be causal in this neurodegenerative disease because it accumulates in increasing amounts in certain areas of the brain as the patient progresses.

Beta amyloid (amyloid beta peptide) is thought to accumulate in the brain cells of AD patients and form clumps and form plaquesthat deposit in brain cells and blood vessels. This protein breakdown product is toxic to neuronal cell metabolism and causes dysfunction at the synaptic level, where nerve cells transmit to each other. 

This drawing demonstrates a nerve synapse where chemicals translate information from one neuron to one another. This process is interfered with by beta amyloid.

 

Tau is the other protein which interacts with beta amyloid. It is thought that beta amyloid interferes with the signaling pathways of a nerve. The result of this interference causes accumulation of tau protein in the form of neurofibrillary tangles that are toxic to the function of neural cell function.

These are actual photos of neuritic plaques and neurofibrillary tangles.

 

This drawing represents normal neurons (nerve cells) on the right and the plaques and tangles in AD.

 

There is intense research on the proteins beta amyloid and tau trying to discover therapeutic help for AD patients. 

Stages of Alzheimer’s disease:

A PET scan with a special tracer (Amyvid) scan is able to identify amyloid and is now able to diagnose AD:

www.ahrmemory.com/memory-baseline/

 

Risk Factors for AD:

1. Age

2. Family history—If a family member (father, mother, child, or sib), there is an increased risk.

3. Genetic factors

There are two types of genes involved with AD:

     A. Risk gene-the APO-e4 gene is a risk gene (apolipoprotein gene involved in lipids) and may be involved in as many as 40% of cases. Having this gene DOES NOT mean you will develop AD. It means there may be an increased risk.

     B. Deterministic gene-fortunately rare, this AD gene codes 3 proteins (amyloid precursor protein, presenilin-1, and presenilin-2). If a person has this gene, this is considered an autosomal dominant form of AD fortunately found in just a few hundred families around the world.

4. Head Trauma

5. Brain/Heart health—there is a connection between these two organs, therefore, keeping one organ healthy may help keep the other one healthy as well. Risks for heart disease are hypertension, elevated cholesterol, and Type 2 diabetes (the metabolic syndrome once again).

6. Can it be transmissible? No! But it has been discussed by researchers who have surgically removed pituitaries for injections of HGH (human growth hormone) in certain patients. Beta amyloid is found in the tissue. It is not infectious and not transmissible. (Nature Journal, 2015)

7. Low levels of Vitamin D. There have been many studies to demonstrate increased memory and cognitive loss in people with low levels of Vitamin D. 40% of Americans have low levels of this vitamin, especially Hispanics and Blacks, according to recent studies. JAMA-Neurology 2015

8. There is a subtype of AD that has low levels of zinc. This subtype is called cortical AD (the other 2 are inflammatory and non-inflammatory), which presents with little memory symptoms. Testing the zinc levels in the blood may be indicated in the workup of patients with dementia. This is an example of the intense amount of research being undertaken on AD. Ref: The journal Aging, 2015

There are numerous ongoing studies looking at a host of medications and how they might lower the risk. 2 specific categories of blood pressure medicine (ACE inhibitors and ARBs) were found to lower the risk by 65%. I covered these blood pressure categories in a previous report: Report #8

Caregiver Issues

Caregiver counseling is strongly recommended in support groups or individual therapy. Having studied caregiver difficulty in those who care for cancer patients, these people suffer along with the patient with  acceleration of their own diseases, neglect of screening for health issues, missing routine doctor visits, and suffering from significant emotional difficulty. If the caregiver has pre-existing mental or physical issues, they must not ignore them to be an effective support person for a patient with AD.

For caregiver supportturn to the Alzheimer’s Association Website: www.alz.org/care/alzheimers-dementia-support-help.asp

Also there is a general website for caregivers taking care of patients with chronic progressive diseases: www.medicinenet.com/caregiving/article.htm

TREATMENT

There is no cure! The goal is to help slow the symptoms of mental dysfunction—memory loss, etc.

 The 4FDA approved medications for early to moderate AD:

1. (Aricept)—doneprezil

2. (Razadine)—galantamine

3. (Exelon)—ravastigmine

These 3 are cholinesterase inhibitors. Acetylcholine is a chemical messenger responsible for learning and memory. Keeping these levels high by inhibiting the breakdown of this chemical will keep nerves communicating with each other. They may delay symptoms in about half the patients for 6-12 months. These are well tolerated but can cause some gastrointestinal complaints and loss of appetite.

4. (Nemenda)—memantine

 This 4th medication acts differently than the others in that it blocks the action of excessglutamate believed to be linked to the symptoms of AD. Glutamate is a neurotransmitter vital to the function of brain cells.

Treating symptoms of AD

Treating the symptoms of AD will be decided by the physician based on clinical features. For instance, if depression is a major factor, treatment necessarily requires treating the depression with anti-depressants and/or psychotherapy. Insomnia is another problem that can be addressed. Patients trying to cope with this disease is a key issue, not only for the patient, but the family and close friends.

There are other forms of supportive care: exercise, control of diabetes and vascular disease, control of lipids, ingestion of antioxidants, and cognitive training. A recent study in the journal Neurology cited significant reduction of amyloid in the blood and CSF of those who consumed resveratrol (found in red wine and chocolate) up to 2000mg a day. This was a phase 2 study and needs further investigation.

Any drug that claims it can stop the progression or cure AD is a fraud!

Clinical Trials

There are important clinical trials that should be considered. A major study is occurring at Harvard Medical School and there are cooperative studies throughout the U.S.  The Alzheimer’s Foundation of America (AFA) has a website to find a clinical trial near you:

www.alzfdn.org/ClinicalTrials/findatrial.html

By 2050, it is estimated there will be 28 million baby boomers in the U.S. diagnosed with AD; nearly 25% of Medicare spending will go toward taking care of those with this disease by 2040. This does not include the cost of home care, nursing home care. There are 80 million baby boomers currently in the U.S.!

The future for AD depends on being able to diagnose AD earlier with some simple tests, and discover a medication that will stop the progression of this disease in its tracks. Also, it is clear that physicians are not addressing the early signs of AD either, and they must be proactive in asking the right questions for those aging.

This completes the October report. Please remember this is breast cancer awareness month and is a reminder to schedule that mammogram. The American Cancer Society will soon be publishing the new guidelines for breast cancer screening (I am proud to be a member of that Guidelines Committee).

Next month, I will report on the rising costs of healthcare, more on the obesity series (effect on organs), STDs (sexually transmitted diseases-part 1), health risks for LGBTs, and pulmonary emboli (blood clots to the lungs).

GET YOUR FLU SHOT! Pneumonia shot! Shingles shot! This year the coverage will be much better.

STAY HEALTHY AND WELL, MY FRIENDS!

Dr. Sam