Rare Disease Day February 29th, cystic fibrosis, abdominal aortic aneurysm, Ehlers-Danlos syndrome, and temporal arteritis

Tomorrow, February 29, 2016, is a rare disease day, which highlights some illnesses such as cystic fibrosis, abdominal aortic aneurysm, Ehlers-Danlos syndrome, and temporal arteritis. It’s important to bring awareness to these diseases in order to not only make the public more informed, but that more research on these diseases can continue growing so that better treatment options and, hopefully one day, a cure can be developed.

Here are some of Bel Marra Health’s news stories regarding rare diseases so that you can better educate yourself on these conditions and become aware of the associated risk factors to better protect you or your loved ones.

Cystic fibrosis exercise benefitsCystic fibrosis (CF) patients suffer from infection and inflammation, exercise can enhance quality of life


Cystic fibrosis (CF) patients suffer from infection and inflammation, but exercise has been shown to help enhance quality of life. There are numerous benefits from exercise for overall good health, but more so for those with cystic fibrosis.

Cystic fibrosis is a fatal genetic disease that currently does not have a cure. CF mainly affects the digestive system and the lungs, and its severity and involvement varies from person to person. Over time, cystic fibrosis causes destruction of the lungs, contributing to loss of lung function, which ultimately leads to death.

A study has found that exercise could have anti-inflammatory effects in cystic fibrosis patients. When a healthy person without CF exercises, the immune cells become activated and enhanced. When exercise is completed, the cells go into a tolerizing phase, where there is a reduction in responsiveness in immune cells.

Exercise has been shown to exert anti-inflammatory effects and is associated with a reduction in disease incidence and viral infection susceptibility.

Cystic fibrosis patients have a limited respiratory function due to inflammation and infection – this may limit patient’s ability to exercise. And yet, patients are still encouraged to partake in regular exercise, as it has been shown to help improve CF outcome, along with boosting quality of life and pulmonary function, and improving overall health. Continue reading…

Abdominal aortic aneurysmAbdominal aortic aneurysm treatment improved using virtual reality images

Virtual reality images can now be used to help improve treatment of abdominal aortic aneurysms due to a technology developed by a group of experts at the University of Montreal Hospital Research Centre.

Abdominal aortic aneurysms are serious. If you have an abdominal aortic aneurysm, it means the lower part of your aorta is enlarged. The aorta is the major blood vessel supplying blood to the body. The aorta runs from your heart through the middle of your chest and abdomen. A ruptured abdominal aorta can lead to life-threatening bleeding.

Aortic aneurysms in the United States caused just over 10,000 deaths in 2009, according to the Centres for Disease Control and Prevention. Although we can’t say for certain why, about two-thirds of people who have an aortic problem are male. The size and rate at which the abdominal aortic aneurysm grows determines the treatment. With some patients, emergency surgery is the obvious approach.

One of the biggest challenges in addressing abdominal aortic aneurysms has been the inability to clearly see the area that needs to be treated. Using virtual reality is a way to significantly improve visibility.

Virtual models can now be created in the angiography room with the approach developed by the researchers in Montreal. This allows for a more detailed look at the abdominal aorta. Even though there have been advances in imagery that improved surgery in recent years, the team in Canada indicated that they wanted to develop new software to maximize images from ultrasound scanners, as well as magnetic resonance imaging technologies, so that doctors can provide personalized treatment to patients. Continue reading…

ALSAmyotrophic lateral sclerosis (ALS) risk affected by BMI, dietary intake, and alcohol consumption

Amyotrophic lateral sclerosis (ALS) risk is affected by body mass index (BMI), dietary intake, and alcohol consumption. Although the exact cause of ALS is still not understood widely, dietary intake is a modifiable factor, which may play a role in ALS.

Researchers from the University Medical Center Utrecht used a 199-item food frequency questionnaire in order to study dietary intake and the risk of ALS.

The study included newly diagnosed patients with ALS, and their final analysis included 674 patients and 2,093 control patients without ALS.

The researchers uncovered presymptomatic total calorie intake in patients with ALS was higher, compared to the healthy controls. Additionally, presymptomatic BMI was lower in patients, compared to the controls as well.
Further analysis found higher premorbid intake of total fat, saturated fat, trans-fatty acid, and cholesterol was linked with an increased risk of ALS, and alcohol intake was linked with a reduced risk.

The authors of the study concluded, “The combination of independent positive associations of a low premorbid body mass index and a high fat intake together with prior evidence from ALS mouse models … and earlier reports on premorbid body mass index support a role for increased resting energy expenditure before clinical onset of ALS.” Continue reading…

Ehlers-Danlos syndrome Ehlers-Danlos syndrome (EDS), group of inherited tissue disorders, affecting skin and joints

Ehlers-Danlos syndrome (EDS) is a group of inherited tissue disorders that affect the skin and the joints. Symptoms of Ehlers-Danlos syndrome stem from defects in connective tissues that support the skin, bones, blood vessels, and other organs and tissues in the body. Symptoms can be mild, severe, or life-threatening.

There is no cure for Ehlers-Danlos syndrome, but there are treatments to better help manage symptoms. The typical treatment is a combination of physical therapy and medication.

Prior to 1997, there were 10 types of Ehlers-Danlos syndrome categorized by Roman numerals. In 1997, the classification system of the different types of EDS became simpler and the types were given descriptive names instead.

As mentioned, classification of Ehlers-Danlos syndrome has since been simplified into six different types. The six types of Ehlers-Danlos syndrome include:

Classical type (formerly types I and II) – type V collagen is affected and type I, resulting in occasional organ fragility.

Hypermobility type (formerly type III) – most widespread type in which a biochemical collagen has not been identified.

Vascular type (formerly type IV) – structural defects in the proa1 (III) chain of collagen type III and encoded by the COL3A1 gene. Characterized by fragile arteries, intestines, and other internal organs.

Kyphoscoliosis type (formerly type VIA) – deficiency of lysyl hydroxylase (procollagen-lysine 5-dioxygenase, or PLOD), which is a collagen-modifying enzyme. Very rare form of EDS characterized by fragility of eyes and arteries. Can be diagnosed by urine test.

Arthrochalasia type (formerly types VIIA and VIIB) – mutations leading to deficient processing of the amino-terminal end of proa1(I) [type A] or proa2(I)[type B] chains of collagen type I. Very rare form, can be diagnosed by skin biopsy.

Dermatosparaxis type (formerly type VIIC) – deficiency of procollagen I N-terminal peptidase. Also very rare, and can be diagnosed by skin biopsy, too. Continue reading…

Temporal arteritisTemporal arteritis (giant cell arteritis) risk, relation to polymyalgia rheumatica


Temporal arteritis, also known as giant cell arteritis or GCA, is a rare autoimmune disease, but for the roughly 500,000 Americans who currently suffer from it, the condition can be further aggravated by its relation to another immune disorder.

Temporal arteritis or giant cell arteritis is inflammation and damage to the blood vessels that supply blood to the head, neck, upper body, and arms. It can impact medium to large arteries. The inflammation, swelling, and tenderness that come as a result of giant cell arteritis can be overwhelming.

In the majority of cases, giant cell arteritis occurs in the arteries around the temples that branch off from the carotid artery, which is in the neck. There are cases where the disorder can occur in the arteries in other parts of the body.
Temporal arteritis (or giant cell arteritis) and polymyalgia rheumatica, which is another inflammatory condition, have been linked. Medical data shows that polymyalgia rheumatica happens in an estimated 50 percent of people who suffer from giant cell arteritis. About 15 to 30 percent of people who start out with a diagnosis of polymyalgia rheumatica are later diagnosed with giant cell arteritis. Continue reading…