F.A.Q.

F.A.Q.

Familial Hypercholesterolemia

Hypertrophic Cardiomyopathy

Stomach Cancer

Familial Hypercholesterolemia

What is Familial Hypercholesterolemia?

Familial Hypercholesterolemia is a genetic disorder which is linked to a deficiency in lipid metabolism. As a result, individuals with this disease present abnormally high levels of cholesterol in their blood. This disease represents a significant cause in Atherosclerosis, coronary disease and premature death. In Portugal approximately 200,000 people present high cholesterol levels.

How is Familial Hypercholesterolemia treated?

Early diagnosis is fundamental to both the prevention and treatment of this disease. Ready therapy exists and consists of lifestyle changes and drug use which lower cholesterol levels. Therapy should begin as early as possible.

What are the advantages of genetic diagnosis?

Application of clinical criteria without resorting to genetic diagnosis leads to a wrong diagnosis in approximately 25% of cases. This given, genetic diagnosis represents a fundamental tool. Genetic diagnosis is essential for:

  • Earliest and most precise diagnosis possible;
  • Genetic counselling for both the patient and family members.

Genetic screening is recommended by various international organisations like, for example, the European Atherosclerosis Society.

 
How is the test performed?

Genetest has developed an innovative new saliva testing method in Portugal for the diagnosis of this disease. The test is carried out by means of saliva samples which are easily and painlessly collected through the supplied testing kit. Alternatively, the test can also be performed by means of a blood sample.

Hypertrophic Cardiomyopathy

What is Hypertrophic Cardiomyopathy?

 Hypertrophic Cardiomyopathy is the single most common cause of sudden death in both young adults and athletes. It affects approximately 1 out of every 500 individuals. It is characterised by an increased thickness in the heart muscle and progressive loss of cardiac function.

Although many individuals with this disease are often asymptomatic, some may present symptoms such as shortness of breath, chest pain, palpitations and fainting.
A smaller percentage of individuals present high risk for cardiac arrhythmia, cardiac arrest and sudden death.
 
What causes Hypertrophic Cardiomyopathy?

In the majority of cases this disease is inherited, though it is not always possible to identify positive family history.

How is Hypertrophic Cardiomyopathy treated?

To date, no existing cure for Hypertrophic Cardiomyopathy has been identified. Despite this, many problems which are normally associated with the disease can be controlled depending on early diagnosis.

Individuals with Hypertrophic Cardiomyopathy should be accompanied by a cardiologist who should examine the patient regularly.
This procedure will evaluate progression of the disease and allow for a greater choice of available treatment options. These include the use of different medications, surgery or the implementation of a defibrillator.
 
What are the advantages of genetic diagnosis?

Genetic diagnosis can play an important part in:

  • Early and more precise and correct diagnosis of the disease: 
  • Genetic counselling of both the patient and family members;
  • Proper definition of surveillance strategies in pre-clinical patients, this is, patients who do not yet show signs of hypertrophy.

Genetic diagnosis can also be fundamental for the restriction of strained sport activity in youngsters.

 
How is the test performed?

Genetest has developed an innovative new saliva testing method in Portugal for the diagnosis of this disease. The test is carried out by means of saliva samples which are easily and painlessly collected through the supplied testing kit. Alternatively, the test can also be performed by means of a blood sample.

Stomach Cancer

What are Helicobacter pylori and which diseases are associated with such an infection?
Helicobacter pylori are bacteria which infect the human stomach.
Such an infection is associated with diverse lesions/diseases such as gastritis, gastric and duodenal ulcers and stomach cancer.
 
How is infection by Helicobacter pylori treated?

 In order to treat such an infection, a combination of two antibiotics is normally given, a gastric acid inhibitor and/or bismuth compounds.

Is treatment always effective?

Treatment is effective in 70% to 90% of registered cases. The most frequent cause of failure in the elimination of the infection is bacterial resistance to the antibiotics used in treatment. Generally speaking, this owes to patients’ previous contact to the antibiotics.

When treatment fails is it advisable to repeat treatment?

Scientific studies have shown that Helicobacter pylori can be of differing types. Genotyping of Helicobacter pylori allows distinguishing between the least and most pathogenic bacteria being that the latter are more associated with the development of gastric illness.

New treatment is especially advisable in individuals infected with the more pathogenic strain of bacteria. This treatment consists of an alternative combination of antibiotics. The choice of more effective antibiotics can imply performing an antibiogram.
 
Who should be doing the test?

Individuals with family history of stomach cancer and those who have previously attempted to treat infection, unsuccessfully, may consider, with clinical accompaniment, Helicobacter pylori genotyping.

How is the test performed?

In order to carry out Helicobacter pylori genotyping, a gastric biopsy or surgical specimen is necessary. The frozen, formalin-fixed and/or paraffin-embedded gastric specimen should be sent to Genetest where the test will be carried out.

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