We should not all equal on the subject of cancer. Some people even have a number of abnormalities of their genetic makeup that favor certain cancers, called “pathogenic variants.” These are abnormalities (a number of mutations inside a selected gene) often passed down from certainly one of the 2 parents, and are present from the primary day of life to the last.
These pathogenic variants are frequently not found by probability: they've already been identified in a patient with cancer. Family members can then undergo a genetic test to find out in the event that they are also carriers, as a part of a specialist's consultation.
After genetic screening, some people find themselves at a big risk of developing cancer within the years to come back. The query of surgery can then be asked: Should we, to avoid wasting ourselves, consider removing a whole organ – for instance the stomach, thyroid, breast or ovary?
The query is more serious because these individuals are, on the time they must make this selection, in perfect health and the cancer doesn't necessarily break out. This known as prophylactic surgery. Here are essentially the most symbolic examples.
Stomach cancer…
are related to pathogenic variants in genes. Increased risk of developing a type of stomach cancer called diffuse, or “loose cell” gastric cancer.. The risk begins in young adults and increases to 30-40% over the course of a lifetime. This cumulative risk is taken into account sufficient to justify surgery, especially since screening means are limited.
Encodes an adhesion protein, E-cadherin, whose role is to make sure the integrity of gastric tissue. In the case of a pathogenic variant on this gene, the protein now not functions normally and the integrity of the organ tissue is compromised, resulting in uncontrolled cell proliferation.
Screening for diffuse gastric cancer is difficult. In fact, this cancer shouldn't be all the time visible during a gastroscopy, a procedure that involves inserting a tube equipped with a camera into the stomach. And that is despite the undeniable fact that the performance of gastroscopy has greatly improved in recent times, thanks specifically to virtual staining and magnification techniques.
Should surgery be considered? The selection of intensive surveillance can't be ruled out, especially when the danger of cancer is lower than 100%, not to say the hope of short-term improvements in screening. However, only prophylactic surgery guarantees protection against gastric cancer. It is taken into account from the age of 20.
…then living with out a stomach
Adult life with out a stomach is entirely possible…but at the fee of a change in quality of life and long-term medical and dietary monitoring.
Of course, surgeons reconstruct a “reservoir” from a bit of intestine, but this only partially compensates for the organ's absence. Approximately 15% body weight reduction is observed within the 12 months following the operation. Some describe the disappearance of the sensation of hunger and the pleasure of eating.
Staying flat requires you to portion out your food, so eat smaller amounts but more often. Pain may occur while eating.
Early discomfort is expounded to the undeniable fact that the bolus of food is not any longer stored within the stomach and that the intestine shouldn't be designed to accommodate large amounts in a brief time frame. Later, we may observe episodes of hypoglycemia: the rapid passage of food into the bloodstream first rapidly raises blood sugar, causing the body to release large amounts of insulin… which This causes blood glucose levels to drop rapidly and sometimes excessively.
Absence of the stomach also results in a deficiency of vitamins and other essential elements: for instance, the factor secreted by the stomach is crucial for the absorption of vitamin B12, which is involved in red blood cell production and nerve function. Is. Surgical assembly and the rapid passage of digested food through the digestive system also compromise the absorption of vitamin D and calcium (essential for skeletal strength) and iron (essential for red blood cell production).
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Children are sometimes affected.
Age shouldn't be all the time, unfortunately, a relevant factor: there are genetic predispositions that require early surgery.
Such Multiple endocrine neoplasia type 2 An inherited disease is defined by the presence of pathogenic variants of a gene. It can affect three endocrine glands (secreting hormones within the body): thyroid, adrenal and parathyroid medulla. But it is principally characterised by the danger of aggressive thyroid cancer, medullary cancer.
The risk varies depending on the position of the pathogenic variant within the gene. For some types, the danger begins in the primary years of life and reaches 100% in maturity. So it's strongly beneficial. Remove the thyroid, sometimes in very young children. Thyroid hormone alternative is then administered, and for all times. This alternative prevents the results of hypothyroidism: growth retardation and growth retardation in children, fatigue, decreased psychomotor speed, weight gain and cold intolerance in adults.
Christophe Archambault/AFP
We have presented two particularly striking examples of the genetic predisposition to cancer, the final result of surgery and the age at which it's performed. But these examples are rare: it's estimated that just one in 5,000 people carry a pathogenic variant of the gene.
Let us now turn our attention to a trend that is nearly definitely relevant right now. 1 in 500 people: genetic predisposition to breast and ovarian cancerPromoted by Angelina Jolie for ten years.
Breast and ovarian cancer
Before she turned 40, the American actress had her breasts after which her ovaries removed as a precautionary measure. She is definitely carrying a pathogenic strain in her.
and are vital susceptibility genes for breast and ovarian cancer. Lifetime risk to the carrier is approx. 70% for breast cancer, and 20-40% for ovarian cancer. Prophylactic breast surgery consists of removal (mastectomy) followed by reconstruction by a plastic surgeon.
It is significant to make clear here that breast removal is an option, as there are effective technique of screening. Surgery is due to this fact discussed as is annual surveillance with radiological examinations, magnetic resonance imaging (MRI) and mammography.
If a girl desires to rid herself of this high risk of breast cancer, or finds surveillance prohibitive and troublesome, she decides to undergo surgery. Surgery is feasible from the age of 25-30 years.
For the ovaries, nevertheless, prophylactic surgery is strongly beneficial, and from the age of 40-45. Unlike breast, there's currently no effective screening tool for ovarian cancer.
Ovarian surgery leads to premature menopause, as the lady loses her major source of female hormones. Hormonal alternative therapy is obtainable under certain conditions.
It is significant to do not forget that men who've pathogenic variants or are in danger for breast cancer. Carriers are also in danger for prostate cancer. Generally there is no such thing as a query of prophylactic prostate surgery, although this possibility has already been considered. The results might be severe, mainly impotence and incontinence. There are also technique of screening by measuring blood markers, and maybe soon by MRI.
A social and psychological effect
The selection of prophylactic surgery is influenced by the perception of the genetic syndrome and the private and family history of the person concerned.
Before surgery, it might be helpful to present yourself time to think, seek the advice of patient associations, and seek help from a mental health skilled. Indeed, the impact of surgery shouldn't be only physical: it is typically social and psychological as well.
For an invisible organ just like the stomach, post-operative weight reduction is clear and might result in comments and questions. Sharing food and feeling sick can affect social life. A lady who's considering having her breasts and ovaries removed sometimes fears losing a part of her femininity. Breast reconstruction often provides excellent results. However, it also happens that the brand new breast doesn't conform to the one before the surgery after which you will have to adapt to the brand new body image.
Advances in screening
Nevertheless, one of the best solution to protect yourself from certain cancers is prophylactic surgery, in case of a prognosis.
We can hope for progress in screening within the medium term, thus offering safer alternatives. Young carriers will then protect their stomachs with complete peace of mind, allowing them to eat as much as they need and without the danger of malnutrition. Women of their 40s or 45s retain their ovaries, and even in the event that they are attached, and naturally undergo menopause of their fifties…
Medicine is evolving. See you in a number of years for brand new insights into prophylactic surgery?