Alzheimer’s Disease | Dementia Diagnosis Breakthrough Hopeful, Expensive

Alzheimer’s disease was not what came to mind for Jill Hofstede when she first noticed changes in her mother’s behavior.

“We started to see compulsiveness. She was sending money to everyone and anybody who would ask for it,” Hofstede says. “I knew something wasn’t right, but we didn’t think Alzheimer’s disease from the get-go. I thought that would start showing more as memory problems, and for my mom, that wasn’t the initial sign.”

When her family learned the then 80-year-old was getting two post office tubs of solicitation mailings a day and nonstop calls from scammers because of her confused generosity, Hofstede was living 400 miles away from her mother.

“When she told me she was going to meet someone in the Walmart parking lot to give them money because she had won the lottery, we realized it wasn’t safe to leave her alone anymore,” she says.

So the Washington state mother of seven children moved her mom to her property. Over the next 2 to 4 years, Hofstede says, she saw frequent signs of declining thinking skills in her mom and often sought advice from doctors. But she says answers and help were hard to come by.

“It was amazing to me that even by the time we got pretty far into this and she clearly had memory problems, the doctors would say, ‘Yeah, there are some signs but it’s not definitive,’ ” she says.

After several years, a geriatric doctor finally gave them a diagnosis. But Hofstede says that is all they got.

‘The doctor says, ‘She has Alzheimer’s’ but never made a follow-up appointment or anything,” she says. “I was astounded. There is certainly education that could have been done about the path that this could take us on and support resources that should have been shared. That would have been enlightening, and none of that was done. She just handed us a pamphlet and basically said, ‘Good luck with everything.’ ”

The Alzheimer’s Association says 5.8 million Americans are living with Alzheimer’s disease, which is one brain disorder under the larger umbrella of dementia. Confirming that a loved one has this progressive and permanent brain disorder has been challenging for many families because a firm diagnosis can come only through an autopsy that identifies molecular changes in the brain.

But a new study of more than 11,000 patients published in TheJournal of the American Medical Association in April finds for the first time that technology can detect biological evidence of brain changes clearly linked to Alzheimer’s.

The Imaging Dementia — Evidence for Amyloid Scanning (IDEAS) study involved people enrolled by nearly 1,000 dementia specialists across the country, and all had been diagnosed with either mildly impaired thinking skills or dementia in the last 2 years.

“As in any other field of medicine, a clinical history and a physical exam is very important, but being able to directly visualize the biology of the organ involved in the disease process is really essential to make an accurate diagnose,” says lead study author Gil Rabinovici, MD, a professor at the University of California, San Francisco’s Memory and Aging Center.

What We Are Learning About Alzheimer’s

Alzheimer’s disease is defined by two kinds of protein deposits that build up in the brain: amyloid plaques and tangles, called tau. As Alzheimer’s advances, these proteins destroy neurons in the brain, affecting thinking skills at first, and eventually making the disease fatal.

This new study used amyloid positron emission tomography, more commonly called PET scans, to detect amyloid plaques in the brain, which all people with Alzheimer’s have.

“We’ve had technology to help us visualize other organs in the body for a long time, and in the brain, we’ve been able to visualize structural changes. But this technology is a paradigm shift because it allows us to directly detect the molecular changes of the plaques involved in Alzheimer’s disease,” Rabinovici says. “Adding that information into a careful clinical assessment can provide patients with an earlier and more accurate diagnosis.”

Looking at plaques in this study produced several interesting findings. For starters, the PET scans discovered misdiagnoses in about one-third of patients.

Before study participants were scanned in this study, Alzheimer’s disease was the leading cause suspected for cognitive impairment in 76.9% of patients. But the PET scans read as positive only for Alzheimer’s in 55.3% of patients in this study with mildly impaired thinking skills, and 70.1% of those with dementia. Other causes of dementia can include Lewy body disease, frontotemporal lobar degeneration, or vascular disease — caused by stroke or damage to blood vessels.

This study also shows the results of these PET scans led to changes in patient care with doctors, altering the way they managed 60.2% of patients with mildly impaired thinking skills and 63.5% of patients with dementia — double the rate researchers were expecting.

“If they have PET scans, they will make better diagnoses,” says Clifford Jack Jr., MD, a noted Alzheimer’s researcher and radiologist at the Mayo Clinic in Rochester, MN, and the lead author of an editorial published alongside Rabinovici’s study. “That is what the PET scan did. It told the clinician what the likely underlying pathology was.”

The changes doctors made to patient care often centered on medications. No medicines can stop the disease or keep it from getting worse. But the FDA has approved six drugs intended to help manage symptoms by boosting neurotransmitters in the brain.

And in this study, positive PET scan results increased the use of drugs to manage Alzheimer’s disease symptoms from 40.4% in patients with mildly impaired thinking skills to 81.5%; and from 63.2% to 91.2% in patients with dementia. Reductions in the use of these drugs for patients with a negative scan were more modest but still significant. Rabinovici says these changes are important because some drugs that can ease symptoms of Alzheimer’s can worsen symptoms of other neurological conditions.

The study found the PET scans also influenced the counseling doctors gave patients and families on practical and safety issues, including living alone, the ability to manage their medications on their own, driving, and the need for advanced directives or powers of attorney for financial decisions, which Rabinovici says also are important.

“In dementia care, especially in the early stages, if we are uncertain about a diagnosis, doctors might take a watch-and-wait approach and not give a definitive diagnosis to families or clear guidance about what to expect and do,” he says. “As a medical system, unfortunately, our responses are often reactive. We don’t do anything until a crisis comes up. So if we can give patients and families a more definitive diagnosis at an early stage, maybe we can recommend, and they will implement important safety precautions.”

Price Can Make PET Scans Hard to Get

The downside for patients is that PET scans are out of reach for most because they are expensive and aren’t currently covered by Medicare or most insurance plans. In this study, Rabinovici says, the cost of the scans was covered by the Centers for Medicare & Medicaid Services and additional study expenses were paid for by the Alzheimer’s Association, the American College of Radiology, and industry partners.

He says the next step for his team is studying whether the changes that doctors made in managing their patients as a result of these scans can mean better medical outcomes.

“Our hope is when we complete the second phase of the study, we will be able to show the scan not only changes management but improves outcomes, and that will lead Medicare to reconsider covering scans at least in some situations,” Rabinovici says. “The short-term goal is to have this technology accessible and reimbursed at least for early stage and difficult-to-diagnose situations.”

“Amyloid PET scans are expensive ($3,000-$4,000), and until they are covered by Medicare and Medicaid, they will be unavailable to most people,” says Maria Carrillo, PhD, chief science officer at the Alzheimer’s Association. “We look forward to the Centers for Medicare & Medicaid Services re-evaluating the second aim of the IDEAS study, which is expected to read out in 2020.”

Why Is Alzheimer’s Disease So Hard to Diagnose?

Even though researchers are learning more about Alzheimer’s, there’s no question it’s still tough to diagnose.

“People with concerns about their or a loved one’s cognition should seek a diagnosis from a specialist, such as a neurologist, or some other clinician who is very experienced with observing, assessing, and diagnosing the cognitive concerns and changes of older people,” Carrillo says.

She says if the diagnosis points to dementia and the cause of the dementia is unclear, there are ways to help clinicians determine next steps.

But many experts say in reality, terms aren’t always used precisely. “Alzheimer’s disease is used as a blanket term for dementia in the elderly, but we are realizing there are more disorders that contribute to dementia than Alzheimer’s biology,” says Walter Koroshetz, MD, director of the National Institute of Neurological Disorders and Stroke, a part of the National Institutes of Health.

“Many are told in life they have Alzheimer’s disease based on clinical symptoms alone, which is incorrect. That has been a real problem,” Jack agrees. “The same clinical presentation of progressive memory problems that ultimately leads to dementia can be caused by other brain diseases and conditions other than Alzheimer’s disease.”

He says there is clearly a demand for more answers about the disease. And, he says, this latest study demonstrated that by its large number of people who took part in it and their rapid enrollment. In 19 months, more than 16,000 registered to participate and 11,400 actually did.

“It tells me that there is a huge, pent-up demand on the part of both patients and dementia experts for access to the tools, in this case PET scanning, that will enable them to know what is going on in the brains of their patients.” Jack says.

Experts say better understanding of what is happening in patients’ brains is crucial to families, needed by doctors to manage cases, and especially critical for research that works toward treatments that are usually condition-specific.

“These advances in diagnostics are really opening the window towards early detection and intervention, and the hope is that one day, we can delay or even prevent the onset of symptoms in many people,” Rabinovici says.

What Can Families Do?

The latest facts and figures from the Alzheimer’s Association show that people over 65 live an average of 4 to 8 years after a diagnosis of Alzheimer’s dementia, but some can live up to 20 years with the disease.

“The current situation we have now is that unfortunately, there aren’t any treatments that have been shown to reverse the process once it is started. So management of the patient is still an ongoing relationship between the doctor and the family in terms of how to manage the day-to-day, week-to-week, year–to-year issues,” Koroshetz says. “A lot of what a doctor does is treat the patient in front of them, which has less to do with the precision of the biology of the brain.”

In its 2019 summary of the latest research on the disease, the Alzheimer’s Association cites research to suggest that memory and thinking skills in people with Alzheimer’s may be improved through exercise and brain stimulation activities and exercises, though the advocacy group stresses more information is needed to fully understand potential benefits.

As for Hofstede, it’s been 4 years since she got the diagnosis for her mom, who just turned 90, and she says these last 8 years as a caregiver have been the hardest of her life.

“Alzheimer’s disease steals her life, and it’s stealing mine as well,” she says.

The Washington state resident says she feels it is very important that she cares for her once vibrant, outgoing mother now that she’s in decline. But she admits that is often emotionally draining and a real challenge to plan.

“She doesn’t understand when you explain things. There is no reasoning with someone who has Alzheimer’s disease, and she can get really upset,” Hofstede says.

But the caregiver says she’s learned that she and others like her have access to helpful resources.

“There is management. There are medications that slow down the progression of Alzheimer’s. There are medications for behavior challenges or mood swings that can occur, and there is certainly education that could have been shared about the path that this could take us on,” Hofstede says. “That would have been enlightening.”

She’s found a caregiver support group to be especially helpful, and she now drives 35 minutes each way to get to hers. “For us, that has been much more helpful for gaining information than anything she had gotten from the physicians,” she says.

And every day, Hofstede says, she hopes for a breakthrough or a discovery to prevent the disease or cure it — for her mother’s sake, her own, and her family’s. “And I would do anything I could to prevent this from happening to my family,” she says.

The Alzheimer’s Association offers a variety of resources for caregivers on its website (https://alz.org/help-support/caregiving) and through the group’s 24/7 helpline at 800-272-3900. The Alzheimer’s Association’s “10 Early Signs and Symptoms of Alzheimer’s” is also a helpful resource for those wondering if their memory issues may be a symptom of Alzheimer’s or other dementia.

 

  • Jennifer Clopton

 

 

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Fibroids: All The Bits And Particulars, From Types To Complications

Uterine fibroids are non-cancerous tumors that grow from the muscle layers of the womb. These benign growths of smooth muscle can vary from the size of a bean to being as large as a melon.

They are also known as leiomyomas and myomas.

Fibroids affect around 30 percent of all women by the age of 35 years, and from 20 to 80 percent by the age of 50 years.

They usually develop between the ages of 16 to 50 years. These the reproductive years during which estrogen levels are higher.

This MNT Knowledge Center article will look at the types of fibroid, their effects on the body, what causes them, how they are discovered, and what women can do to treat them.

Fast facts on fibroids:Here are some key points about fibroids. More information is in the main article.

  • Fibroids are most common during the reproductive years.
  • It is unclear exactly why they form, but they appear to develop when estrogen levels are higher.
  • Most people experience no symptoms, but they can include lower backache, constipation, and excessive or painful uterine bleeding leading to anemia.
  • Complications are rare, but they can be serious.

 

Types

Fibroids
Fibroids are non-cancerous tumors that appear in the tissues around the womb. 

There are four types of fibroid:

  • Intramural: This is the most common type. An intramural fibroid is embedded in the muscular wall of the womb.
  • Subserosal fibroids: These extend beyond the wall of the womb and grow within the surrounding outer uterine tissue layer. They can develop into pedunculated fibroids, where the fibroid has a stalk and can become quite large.
  • Submucosal fibroids: This type can push into the cavity of the womb. It is usually found in the muscle beneath the inner lining of the wall.
  • Cervical fibroids: Cervical fibroids take root in the neck of the womb, known as the cervix.

The classification of a fibroid depends on its location in the womb.

Symptoms

Around 1 in 3 women with fibroids will experience symptoms.

These may include:

  • heavy, painful periods, also known as menorrhagia
  • anemia from heavy periods
  • lower backache or leg pain
  • constipation
  • discomfort in the lower abdomen, especially in the case of large fibroids
  • frequent urination
  • pain during intercourse, known as dyspareunia

Other possible symptoms include:

  • labor problems
  • pregnancy problems
  • fertility problems
  • repeated miscarriages

If fibroids are large, there may also be weight gain and swelling in the lower abdomen.

Once a fibroid develops, it can continue to grow until menopause. As estrogen levels fall after menopause, the fibroid will usually shrink.

 

Causes

It remains unclear exactly what causes fibroids. They may be related to estrogen levels.

During the reproductive years, estrogen and progesterone levels are higher.

When estrogen levels are high, especially during pregnancy, fibroids tend to swell. They are also more likely to develop when a woman is taking birth control pills that contain estrogen.

Low estrogen levels can cause fibroids may shrink, such during and after menopause.

Genetic factors are thought to impact the development of fibroids. Having a close relative with fibroids increases the chance of developing them.

There is also evidence that red meat, alcohol, and caffeine could increase the risk of fibroids, and that an increased intake of fruit and vegetables might reduce it.

Being overweight or obese increases the risk of fibroids.

Childbearing lowers the risk of developing fibroids. The risk reduces each time a woman gives birth.

 

Diagnosis

As fibroids often do not show symptoms, they are usually diagnosed during routine pelvic examinations.

The following diagnostic tests can detect fibroids and rule out other conditions:

  • A doctor can create ultrasound images by scanning over the abdomen or by inserting a small ultrasound probe into the vagina. Both approaches may be needed.
  • An MRI can determine the size and quantity of fibroids.
  • hysteroscopy uses a small device with a camera attached to the end to examine the inside of the womb. The device is inserted through the vagina and into the womb through the cervix. If necessary, the doctor can take a biopsy at the same time to identify potentially cancerous cells in the area.
  • A laparoscopy may also be performed. In a laparoscopy, the doctor makes a small opening in the skin of the abdomen and inserts a small tube with a lighted camera attached through the layers of the abdominal wall. The camera reaches into the abdominopelvic cavity to examine the outside of the womb and its surrounding structures. If necessary, a biopsy can be taken from the outer layer of the womb.

 

Treatment

Birth control medication an be used to shrink fibroids.
Birth control medication can be used to shrink fibroids. 

Treatment is only recommended for those women experiencing symptoms as a result of fibroids. If the fibroids are not affecting the quality of life, treatment may not be necessary.

Fibroids can lead to heavy periods, but if these do not cause major problems, one may choose not to have treatment.

During menopause, fibroids often shrink, and symptoms often become less apparent or even resolve completely.

When treatment is necessary, it can take the form of medication or surgery. The location of the fibroids, the severity of symptoms, and any future childbearing plans can all affect the decision.

Medication

The first line of treatment for fibroids is medication.

A drug known as a gonadotropin-releasing hormone agonist (GnRHa) causes the body to produce less estrogen and progesterone. This shrinks fibroids. GnRHa stops the menstrual cycle without affecting fertility after the end of treatment.

GnRH agonists can cause menopause-like symptoms, including hot flashes, a tendency to sweat more, vaginal dryness, and, in some cases, a higher risk of osteoporosis.

They may be given before surgery to shrink the fibroids. GnRH agonists are for short-term use only.

Other drugs may be used, but they may be less effective when treating larger fibroids.

These include:

  • Non-steroidal anti-inflammatory drugs (NSAIDs): These include mefenamic and ibuprofen. Anti-inflammatory medications reduce the production of hormone-like lipid compounds called prostaglandins. Prostaglandins are associated with crampy periods, and they are thought to be associated with heavy menstrual periods. For those with fibroids, an NSAID may be effective at reducing fibroid pain, does not reduce bleeding from fibroids, and does not affect fertility.
  • Birth control pills: Oral contraceptives help regulate the ovulation cycle, and they may help reduce the amount of pain or bleeding during periods.
  • Levonorgestrel intrauterine system (LNG-IUS): This plastic device is placed inside the womb. It then releases a hormone called levonorgestrel over an extended timeframe. The hormone stops the inside lining of the womb from growing too fast, which reduces menstrual bleeding. Adverse effects include irregular bleeding for up to 6 months or longer, headaches, breast tenderness, and acne. In some cases, it can stop periods.

Surgery

Severe fibroids may not respond to more conservative treatment options, and surgery may be necessary.

The treating doctor may consider the following procedures:

  • Hysterectomy: A hysterectomy is the partial or total removal of the womb. This is considered for treating extremely large fibroids or excessive bleeding. A total hysterectomy can prevent the return of fibroids. If a surgeon also removes the ovaries and fallopian tubes, side effects can include reduced libido and early menopause.
  • Myomectomy: This is the removal of fibroids from the muscular wall of the womb. It can help women who still want to have children. Women with large fibroids, or fibroids located in particular parts of the womb, may not benefit from this surgery.
  • Endometrial ablation: Removing the lining inside of the womb may help if fibroids are near the inner surface of the womb. Endometrial ablation may be an effective alternative to a hysterectomy for some women with fibroids.
  • Uterine artery embolization (UAE), more specifically uterine fibroid embolization (UFE): Cutting off the blood supply to the area shrinks the fibroid. Guided by fluoroscopic X-ray imaging, a chemical is injected through a catheter into the arteries supplying blood to any fibroids. This procedure reduces or removes symptoms in up to 90 percent of people with fibroids but is not suitable for women who are pregnant and typically not for those who still wish to have children.
  • MRI-guided percutaneous laser ablation: An MRI scan is used to locate the fibroids. Fine needles are then inserted through the skin and body tissues of the patient and pushed until they reach the targeted fibroids. A laser fiber device is inserted through the needles. A laser light is sent through the device to shrink the fibroids.
  • MRI-guided focused ultrasound surgery: An MRI scan locates the fibroids, and high energy ultrasound waves are delivered to shrink them.

Natural treatments

There is no proven natural treatment for fibroids. However, keeping weight down through exercise and a healthful diet may help to moderate estrogen levels.

 

Complications

Fibroids infertility<!--mce:protected %0A-->
In severe cases, fibroids can lead to infertility

Fibroids do not normally result in complications, but if they occur, they can be serious and even life-threatening.

Complications may include:

  • Menorrhagia, also called heavy periods: This can sometimes prevent a woman from functioning normally during menstruation, leading to depression, anemia, and fatigue.
  • Abdominal pain: If fibroids are large, swelling and discomfort may occur in the lower abdomen. They may also cause constipation with painful bowel movements.
  • Pregnancy problems: Preterm birth, labor problems, and miscarriages may occur as estrogen levels rise significantly during pregnancy.
  • Infertility: In some cases, fibroids can make it harder for the fertilized egg to attach itself to the lining of the womb. A submucosal fibroid growing on the inside of the uterine cavity may change the shape of the womb, making conception more difficult.
  • Leiomyosarcoma: This is a rare form of cancer that is thought by some to be able to develop inside of a fibroid in very rare cases.

Other serious complications include acute thromboembolism, deep vein thrombosis (DVT), acute renal failure, and internal bleeding.

A woman with fibroids who suddenly develops severe abdominal pain should contact her doctor immediately.