Personalised prescriptions according to your genetics

April 9, 2018, ScienceNordic
Personalised prescriptions according to your genetics
Angiotensin converting enzyme-inhibitors are commonly prescribed to patients with high blood pressure. In rare cases, this type of medication can cause severe, even life threatening, swelling to the head and neck area. Credit: Shutterstock

Approximately half a million Danes are currently prescribed some type of ACE inhibitor to reduce their blood pressure. Worldwide, that number is around 40 million.

This group of drugs, known as angiotensin converting enzyme-inhibitors, is commonly prescribed to patients with high or kidney problems due to diabetes, but in rare cases, it can cause some rather nasty side effects.

Of particular concern is a severe swelling of the head and neck area, which can become dangerous, even deadly in rare cases when situated in the mouth or windpipe. And even though these side effects are documented, they are still relatively unknown, even among doctors.

New research from Rigshospitalet and Odense University Hospital in Denmark in collaboration with Uppsala University Hospital in Sweden, has identified a new genetic mutation that increases the risk of this rare, but dangerous type of .

Knowing what factors contribute to these types of reactions could help doctors to prescribe the most suitable medication, according to each patient's unique genetic makeup, and reduce the risk of such severe reactions.

A rare but serious condition

Understanding these risk factors is particularly important, as in extreme cases the swelling can be deadly. Eighteen people are reported to have died from it between 1979 and 2014, according to previous research in the US.

And this is probably an underestimate, since there were 136 deaths attributed to swellings in the airways during that same period, and not all of the patient records contained information on which drugs the patients were taking.

In severe cases, the patient's throat can close, putting them at risk of suffocation and requiring intensive care on a ventilator until the swelling has subsided.

Unfortunately, there is no specific treatment for this particular type of swelling. And even though in most cases it usually subsides within 12-72 hours it can nonetheless be a very uncomfortable time. The patient will need to be admitted to a hospital for observation for potential airway problems, and eating, speaking, and drinking, can also be difficult.

Do not stop taking medication without medical advice

Even though it might seem like a frightening reaction, it is important to remember, that it is still rare and swelling only affects about 1 out of 200 patients prescribed this particular type of medication.

So, it is extremely important that patients do not stop taking the medication prescribed by the doctor without seeking medical advice first.

If the medication is stopped without proper replacement and assessment by a doctor, it can increase the risk of heart disease, stroke and other severe diseases.

In our research (which is not yet published in a scientific journal), we analysed genetic material from more than 500 patients who had experienced a swelling episode. We wanted to see if there was a genetic explanation as to why some patients treated with this type of medication experience swelling.

We identified one genetic change that could be associated with the reaction, and appeared to double the risk of a severe swelling reaction compared to people who did not carry this mutation.

In a previous study, we also found that elderly women are almost twice as likely to experience swellings as men, while patients with type 2 diabetes seem to be less likely to experience swellings.

What to look out for

The first swelling episode usually occurs within the first days or weeks after starting the treatment. However, it can occur suddenly but with significant delay, even after patients have been taking the medication for many years.

When that happens the doctor may not be aware of a connection between the drug and the swellings.

From our own, unpublished, data we know that more than 14 percent continue to take the medication even after they have been admitted to a hospital due to severe swellings.

Another complication is that the swelling looks much like a regular allergic reaction to food or insects. So it can be tricky to pinpoint the blood pressure medicine as the cause. And while research scientists know that this reaction cannot be treated with anti-allergic medication, more than 90 per cent of patients are nonetheless treated with such medication during hospital admissions.

Personalised prescriptions according to your genetics

There is still work to be done. Previous research has identified other genes of importance to this kind of , but larger studies including all of these mutations are needed to ensure that all of these findings apply to patients of different ethnicity, and not just the groups that have been studied so far.

We hope that in future, will take this kind of research into account and prescribe drugs to lower blood pressure according to each patient's genetic fingerprint.

This should minimize the risk of developing dangerous swellings and other side effects.

In the meantime, who are taking medication with names like ramipril, enalapril, lisinopril, captopril, trandolapril, or perindolapril, and who have had swellings of the face, mouth, or throat, should seek from the doctor who prescribed the in the first place, in order to establish a possible association between tablets and swellings.

Explore further: Third of people not taking their prescribed diabetes medication due to side effects

Related Stories

Third of people not taking their prescribed diabetes medication due to side effects

December 17, 2017
Diabetes patients who take the most commonly prescribed diabetes drug, metformin, are the least likely to follow medical advice regarding their medication due its side effects, a new article in the journal Diabetes, Obesity ...

New class of type 2 diabetes drug associated with rare, life-threatening outcome

June 7, 2017
A new class of drugs, known as SGLT2 inhibitors, is increasingly being prescribed for the treatment of type 2 diabetes, but may increase the risk of rare but serious complication known as diabetic ketoacidosis. In a new study ...

Home remedies: stung by a bee

August 11, 2017
In most cases, bee stings are just annoying, and home treatment is all that's necessary to ease the pain of bee stings. But if you're allergic to bee stings or you get stung numerous times, you may have a more-serious reaction ...

Side effect to blood pressure drugs is genetically determined for some patients, study finds

August 8, 2017
Some patients may have a genetic risk of developing a serious side effect to a type of medication commonly used to treat high blood pressure, research by clinicians and scientists at the University of Nottingham has found.

Genetic variation linked to drug-induced liver damage in some patients

February 22, 2017
Scientists have discovered an uncommon genetic variation that may identify patients with a higher risk of liver damage associated with a range of commonly-prescribed medications.

Listening to the patient's voice: A more patient-centered approach to medication safety

November 16, 2017
Communication between patients and clinicians that is patient-centered, taking into account patient concerns and preferences has important implications for patient safety.

Recommended for you

Researchers identify new genetic disorder

September 21, 2018
Researchers from Michigan State University College of Human Medicine and physicians from Spectrum Health have identified for the first time in a human patient a genetic disorder only previously described in animal models.

Test could detect patients at risk from lethal fungal spores

September 20, 2018
Scientists at The University of Manchester have discovered a genetic mutation in humans linked to a 17-fold increase in the amount of dangerous fungal spores in the lungs.

Researchers identify a new cause of childhood mitochondrial disease

September 20, 2018
A rapid genetic test developed by Newcastle researchers has identified the first patients with inherited mutations in a new disease gene.

Why some human genes are more popular with researchers than others

September 18, 2018
Historical bias is a key reason why biomedical researchers continue to study the same 10 percent of all human genes while ignoring many genes known to play roles in disease, according to a study publishing September 18 in ...

Class of neurological disorders share 3-D genome folding pattern, study finds

September 18, 2018
In a class of roughly 30 neurological disorders that includes ALS, Huntington's Disease and Fragile X Syndrome, the relevant mutant gene features sections of repeating base pair sequences known as short tandem repeats, or ...

Researchers resolve decades-old mystery about the most commonly mutated gene in cancer

September 18, 2018
The most commonly mutated gene in cancer has tantalized scientists for decades about the message of its mutations. Although mutations can occur at more than 1,100 sites within the TP53 gene, they arise with greatest frequency ...

0 comments

Please sign in to add a comment. Registration is free, and takes less than a minute. Read more

Click here to reset your password.
Sign in to get notified via email when new comments are made.