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Prof. Nicoleta Berbec: Thrombophilias are an enormous problem, each by way of prognosis and affected person administration

Prof. Dr. Nicoleta Berbec: Thrombophilia they’re an enormous problemeach by way of prognosis and affected person administration

“Trendy medication requires a multidisciplinary method to the affected person, and we, as hematologists, are very depending on colleagues from different specialists. Thrombophilias stay a serious problem, each from the viewpoint of prognosis and from the viewpoint of the administration of sufferers with thrombophilia”, stated Prof. Nicoleta BerbecMajor doctor Scientific Hematology, NORTH – Provita Medical GroupWithin the webinar Time of the Specialist with the topic Trendy administration of respiratory ailments – a sensible information for the clinicianheld on June 10.

“The affected person with thrombophilia turns into in poor health when a complication happens, thrombosis, as a result of thrombophilias are pro-thrombotic circumstances. They’re threat elements for thrombosis which can be characterised by extreme tendency to hypercoagulability. Many sufferers with thrombophilia by no means develop a thrombotic occasion of their lifetime. A number of threat elements for thromboses have to be related,” explains the specialist physician.

Then, Prof. Berbec concerning the threat elements for each kinds of thrombophilia, hereditary and purchased.

Hereditary thrombophilia presents the next threat elements:

  • antithrombin 3 deficiency;
  • heparin cofactor 2;
  • lack of protein C and coagulation;
  • protein S deficiency;
  • the Leiden issue;
  • hyperhomocysteinemia.

“There are different hereditary thrombophilias, there are genetic modifications, which we often do not check for, however we do not need to ignore them, particularly Thrombomodulin deficiency, Dysfibrinogenemia, t-PA mutation deficiency, PAI elevation and fibrinolysis abnormalities, specifically. quantitative and qualitative plasminogen.”

Antiphospholipid syndrome stays a serious problem: “Thrombophilia is discovered, which is definitely characterised by the manufacturing of antibodies within the physique which can be directed towards its personal phospholipid constructions. The antiphospholipid syndrome is characterised by the looks of each venous and arterial thrombosis, since most thrombophilias are related to venous thrombotic occasions, recurrent abortions and typically thrombocytopenia, it may be 10 % of all circumstances of recurrent thrombosis are attributed to the antiphospholipid syndrome. explains the hematologist.

“There are a number of antiphospholipid elements. The most typical diagnoses are lupus anticoagulant, anticardiolipin antibodies, and anti-beta 2 gl protein I antibodies.

Prof. stated. Berbec that each one kinds of antiphospholipid antibodies can exist on the identical time in the identical affected person, saying: “For acquired thrombophilia, for antiphospholipid syndrome, we often examine lupus anticoagulant, anticardiolipin antibodies, and antibeta-2 antibodies after protein 1.”

In accordance with the relative threat of thrombosis, thrombophilias are divided into three classes:

  • with elevated threat: antithrombin 3 deficiency, double heterozygosity of issue 5 and mutation of issue 2, homozygous mutation of issue 5 and homozygous mutation of issue 2, and antiphospholipid syndrome;
  • with average threat of thrombosis: heterozygous issue 5 Leiden and issue 2 mutation, protein C and protein S deficiency;
  • with a threat of fallingMTHFR homozygous or double heterozygous mutation, PAI-1 homozygous mutation and activated issue 13 mutation.

Thrombosis is the commonest reason behind morbidity and mortality, recognized in roughly 1-2 sufferers per 100,000 folks per 12 months.

“We’ve to take a look at thrombosis by way of a multifactorial mechanism, as a result of we even have genetic elements, reminiscent of thrombophilias, however there are additionally environmental elements or behavioral elements. About 80% of thrombosis circumstances have an recognized trigger and solely in 50% of circumstances we will speak concerning the involvement of a genetic issue, particularly congenital thrombophilia. And fortuitously, over time, solely half of sufferers with congenital thrombophilia expertise a minimum of one thrombotic occasion. “

The danger elements for thrombosis are:

  • weight problems and dyslipidemias;
  • lengthy immobilization;
  • main surgical procedure, particularly orthopedic;
  • work;
  • estrogen substitute therapies;
  • most cancers;
  • diabetes;
  • hypertension;
  • atherosclerosis;
  • the trauma;
  • smoking;
  • the flight lasts greater than 4 hours.

by way of therapy of pulmonary thromboembolismProf. Dr. Nicoleta Berbec, explains that “For any pulmonary thromboembolism, whether it is much less symptomatic, an anticoagulant is given acutely. If we’re speaking about huge pulmonary thromboembolism, thrombolytic therapy is really helpful, and in particular circumstances, surgical interventions by putting filters on the degree of ICI, embolectomies, endovascular surgical interventions.

There are three kinds of prophylactic measures:

  • Normal strategies – hydration, early motion after surgical procedure, enhance of blood stream velocity, weight management, dyslipidemia, hypertension, balanced diabetes upkeep, ample weight loss program, contraceptive prevention, avoidance of estrogen-based hormone remedy and cessation to smoke;
  • Mechanical strategies – elastic stockings, gadgets for intermittent pneumatic compression, venous leg pumps;
  • Pharmacological prophylaxis – low molecular weight heparin, fondaparin which is an oblique issue 10 inhibitor (not really helpful for thrombosis throughout being pregnant), oral anticoagulants, antivitamins Okay, activated issue 10 inhibitors.

“Thrombophilia is just not a illness with no thrombotic drawback, and as a matter of truth, we don’t deal with the affected person with thrombophilia.. Trendy medication means a multidisciplinary method to the affected person with thrombophilia and pulmonary thromboembolism; all sufferers with thrombophilia will need to have main or secondary prophylaxis relying on the affected person’s threat elements, behavioral elements, comorbidities. We should at all times consider the affected person as a WHOLE. At this level, I believe we have to speak concerning the present multidisciplinary crew”, finishing the Ph.D. Dr. Nicoleta Berbec.

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2024-07-01 08:34:44
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