Thrombophilia: causes and treatment of excessive blood clotting tendency

By Cristiano Antonino Last updated Oct 7, 2022

Thrombophilia is defined as a tendency to excessive blood clotting, with a predisposition to develop thromboses and embolisms, both venous and arterial, at a young age (under 45 years)

The different forms of thrombophilia

A distinction is made between acquired forms (severe renal and hepatic insufficiency, use of oral contraceptives, pregnancy, concomitant presence of tumours or diseases of the immune system such as SLE, Sjogren’s, scleroderma) and congenital forms (protein c, protein s, apc resistance, antithrombin III, hyperhomocysteinemia deficiency).

Statistically, the frequency is rare for some forms (antithrombin III: 1/25,000) but very frequent for others (5-7 % of the Italian population is, for example, positive for apc resistance).

In the case of deep vein thrombosis or thrombotic pathology of the arteries occurring under 40 years of age, especially in the presence of a family history (second and third trimester miscarriages, strokes, recurrent and atypical deep vein thrombosis), there is an obligation to extend analyses and diagnostic investigations to thrombophilia.

For most cases, a simple blood test is sufficient, through which the diagnosis is very easy.

In the event of a positive result, this analysis should be extended to first-degree relatives.

Therapy is mainly based on the prevention of thrombotic events with appropriate drugs and aids. In some cases, as in hyperhomocysteinemias, therapy is often decisive and cancels the risk.