Nav: Home

Improved chances of discovering hereditary transthyretin amyloidosis

January 26, 2016

New insights in hereditary transthyretin amyloidosis (ATTR) improve the chances of diagnosing the genetic disease using ECG and ultrasound. In a new doctoral dissertation by Sandra Arvidsson at Umeå University in Sweden, an explanation to the varying symptoms in patients with ATTR is explored. Of particular interest is why the disease only affects the heart in some patients -- pinpointing age and gender as important explanations.

ATTR is a lethal disease characterised by pain, paraesthesia, muscular weakness and autonomic dysfunction. The disease is endemic in Portugal and northern Sweden where 200-300 patients are diagnosed with the disease, but affects people across the globe. ATTR is in many cases difficult to diagnose and can affect tissues throughout the body by changing the hereditary character of the protein transthyretin, which results in varying symptoms.

In some patients, most symptoms affect the stomach and intestines, and the nervous system, whilst others are almost only affected by a thickening of the myocardium -- the heart muscle, which leads to heart failure. The study shows that the varying symptoms partly depend on age and gender, and that older male patients develop more severe effects on the heart.

ATTR can be discovered by heart screening, where a thickening of the myocardium can be a sign of the disease. However, other diseases can also result in the same symptom, which means distinction between diseases can be difficult using ultrasound screening alone.

"I have discovered specific measurements that better identify a thickening of the myocardium caused by ATTR. By measuring the results of the ECG and the left ventricular thickness in the ultrasound, a more accurate suspicion of the disease can be confirmed," says Sandra Arvidsson, doctoral student at the Department of Public Health and Clinical Medicine at Umeå University and author of the dissertation.

"We found that patients with ATTR had reduced amplitudes on the ECG and a relatively symmetric wall thickening of the heart in comparison to patients where the thickening of the myocardium was due to other reasons," she continues.

In the study, ECG and ultrasound was used -- two easily accessible and in general well-used screening methods to investigate suspected heart disease. The use of these two methods can increase the probability for patients with ATTR to receive correct diagnosis at an early stage of the disease.

Another decisive factor for the symptoms of ATTR can be found by looking at the composition of the protein transthyretin in the patient. Previous studies have shown that patients with ATTR have had two different kinds of protein composition. Many patients have full-length transthyretin molecules, whereas the proteins are fragmented in other patients.

The study shows that patients with partly fragmented transthyretin to a larger extent show signs of a thickening of the myocardium and also deteriorated in their heart disease as a consequence of liver transplant.

Liver transplant is a common treatment of ATTR. In many cases, the results are successful. However, in other cases, the disease continues to develop first and foremost in the form of continued negative impacts on the heart.
Sandra Arvidsson grew up in Lögdeå in northern Sweden. She is a registered biomedical scientist and doctoral student in the field of public health and clinical medicine at Umeå University.

Umea University

Related Heart Disease Articles:

Where you live could determine risk of heart attack, stroke or dying of heart disease
People living in parts of Ontario with better access to preventive health care had lower rates of cardiac events compared to residents of regions with less access, found a new study published in CMAJ (Canadian Medical Association Journal).
Older adults with heart disease can become more independent and heart healthy with physical activity
Improving physical function among older adults with heart disease helps heart health and even the oldest have a better quality of life and greater independence.
Dietary factors associated with substantial proportion of deaths from heart disease, stroke, and disease
Nearly half of all deaths due to heart disease, stroke, and type 2 diabetes in the US in 2012 were associated with suboptimal consumption of certain dietary factors, according to a study appearing in the March 7 issue of JAMA.
Certain heart fat associated with higher risk of heart disease in postmenopausal women
For the first time, researchers have pinpointed a type of heart fat, linked it to a risk factor for heart disease and shown that menopausal status and estrogen levels are critical modifying factors of its associated risk in women.
Maternal chronic disease linked to higher rates of congenital heart disease in babies
Pregnant women with congenital heart defects or type 2 diabetes have a higher risk of giving birth to babies with severe congenital heart disease and should be monitored closely in the prenatal period, according to a study published in CMAJ.
Novel heart valve replacement offers hope for thousands with rheumatic heart disease
A novel heart valve replacement method is revealed today that offers hope for the thousands of patients with rheumatic heart disease who need the procedure each year.
Younger heart attack survivors may face premature heart disease death
For patients age 50 and younger, the risk of premature death after a heart attack has dropped significantly, but their risk is still almost twice as high when compared to the general population, largely due to heart disease and other smoking-related diseases The risk of heart attack can be greatly reduced by quitting smoking, exercising and following a healthy diet.
Citrus fruits could help prevent obesity-related heart disease, liver disease, diabetes
Oranges and other citrus fruits are good for you -- they contain plenty of vitamins and substances, such as antioxidants, that can help keep you healthy.
Gallstone disease may increase heart disease risk
A history of gallstone disease was linked to a 23 percent increased risk of developing coronary heart disease.
Americans are getting heart-healthier: Coronary heart disease decreasing in the US
Coronary heart disease is one of the leading causes of death in the United States.

Related Heart Disease Reading:

Best Science Podcasts 2019

We have hand picked the best science podcasts for 2019. Sit back and enjoy new science podcasts updated daily from your favorite science news services and scientists.
Now Playing: TED Radio Hour

Climate Crisis
There's no greater threat to humanity than climate change. What can we do to stop the worst consequences? This hour, TED speakers explore how we can save our planet and whether we can do it in time. Guests include climate activist Greta Thunberg, chemical engineer Jennifer Wilcox, research scientist Sean Davis, food innovator Bruce Friedrich, and psychologist Per Espen Stoknes.
Now Playing: Science for the People

#527 Honey I CRISPR'd the Kids
This week we're coming to you from Awesome Con in Washington, D.C. There, host Bethany Brookshire led a panel of three amazing guests to talk about the promise and perils of CRISPR, and what happens now that CRISPR babies have (maybe?) been born. Featuring science writer Tina Saey, molecular biologist Anne Simon, and bioethicist Alan Regenberg. A Nobel Prize winner argues banning CRISPR babies won’t work Geneticists push for a 5-year global ban on gene-edited babies A CRISPR spin-off causes unintended typos in DNA News of the first gene-edited babies ignited a firestorm The researcher who created CRISPR twins defends...