Genetic Disorder Mapping

Genetic disorders are something to be really concerned about. When a genetic disorder affects the heart, the brain, or the nerves, it can be something horrendous. With factors such as age already being a big concern it’s not nice to have to think so much about health. So is there some sort of technique that allows us the ability to battle these issues?

There is a new MRI technique that does provide the ability to detect a disorder that actually attacks the nerves, heart, and brain.

Let’s start by understanding this particular triple threat disorder. The disorder is known as Fabry disease. Some things to keep in mind about Fabry disease are the following:

• Kidney Problems- GL-3 accumulation in the kidneys may lead to impaired function and may ultimately lead to kidney failure. Treatment depends upon the progression of the disease and the amount of kidney damage. If the problems are severe, dialysis (a system where an external machine filters the blood) or a kidney transplant may be required.
• Heart Problems- GL-3 accumulation can lead to several different types of heart problems, including enlarged heart and heart valve abnormalities. Heart problems are usually managed with medication, depending on how severe they are. If medication is not sufficient, other steps may be taken.
• Brain Issues- Significant GL-3 accumulation can thicken small arteries in the brain. To help reduce the risk of stroke, physicians may prescribe medication.
• Possible Psychological Problems- Patients with Fabry disease may demonstrate psychosocial trends common to other chronic illnesses, including clinical depression, denial of clinical symptoms, and feelings of alienation and loneliness.

This is a particularly difficult disease and being able to map it and figuring out a way to see it coming is vital to a patient’s well being. It was stated in medicalimaging.net that “The MRI technique known as T1 mapping, which can identify heart damage and changes at early stages, earlier than regular MRI scans or ultrasound. When this type of MRI technology is used on patients with Fabry disease, the scans can detect both the disease and the degree of damage to the heart. The T1 mapping technology developed by the group can be easily programmed onto MRI scans worldwide.”

The MRI is the gold standard of diagnostic imaging when dealing with multiple issues. It doesn’t matter the problem, everything from cancer to heart disease has some manner of MRI that helps in detection and proper treatment. It’s good to see that a complex condition that’s so serious can be properly spotted and taken out before it becomes an issue.

The article stated that “Fabry disease can look like other diseases if you only look at the whole heart structure or function, but this T1 mapping test, that can detect the tiniest changes in the heart, could identify all the patients with Fabry disease. It is very likely that this technique will become a key part in clinical examination of patients with Fabry disease. This finding will advance the clinical care of these patients around the world. The implications will be widespread. Heart disease is the number one cause of death for patients with Fabry disease. The earlier the disease can be pinpointed, the sooner treatment can start. The treatment for the disease halts the condition and prevents serious damage to the heart.”

Avoiding damage to the heart is important in any situation. Often the side effects of strong medications or other conditions include damage to the heart. While damage to the heart may not initially be seen or oven a concern, over time they can be disastrous and irreversible.

It’s important that this type of effective usage of diagnostic image technology be allowed to flourish and further enhance the profile of diagnostic imaging. Hopefully the future will see major improvements that will only aide the patient.

If you have any questions about diagnostic imaging procedures please feel free to give us a call. Our dedicated team of imaging experts looks forward to answering all your questions and aiding you in all your diagnostic imaging needs.

Charla Hurst

General Operations Manager

Charla@ClermontRadiology.com  
352-241-6100 

www.ClermontRadiology.com  

References: http://www.fabrycommunity.com/en/Patients/Managing/Symptoms.aspx?gclid=CPPIkZ2IoboCFdJ9Ogod71UAaw&ef_id=UbXiBQAABezJknEX:20131018185804:s

http://www.medimaging.net/mri/articles/294748668/mri_t1_mapping_technique_diagnoses_genetic_disorder_that_attacks_the_heart_brain_and_nerves.html