A rare cause of deep vein thrombosis: inferior vena cava agenesis

Abstract

Inferior vena cava agenesis is a rare condition and is often misdiagnosed. This anomaly is asymptomatic in the majority of cases and is usually diagnosed during imaging tests carried out for other purposes. The most frequent manifestation is deep vein thrombosis (DVT) in lower limbs and anticoagulation therapy is the most frequent treatment option. Other techniques such as thrombolysis and venous bypass are also described. We report two cases diagnosed at our institution during the last year, both of which presented with an episode of DVT. We opted for indefinite anticoagulation therapy and both patients remain asymptomatic, after 1 year of surveillance in the first case and 6 months in the second, with no new episodes of DVT. Although it is not a life-threatening anomaly, it is important to make an appropriate diagnosis and provide treatment to improve the symptoms and quality of life of these patients.

Deep venous thrombosis in patients with atresia of the inferior vena cava and right kidney hypoplasia (KILT syndrome): Systematic review of the literature

“…Surgery was performed in four patients, 15,20,23,38 signs of systemic inflammation with elevated C-reactive protein levels were noted in four, 20,25,32,37 one patient used contraceptive pills and experienced excessive physical strain before thrombosis, 20 and one was obese and his father experienced an unprovoked pulmonary embolism. 33 Three patients were smokers, 22,30,39 four had elevated homocysteine levels, 14,16,19,24 two were heterozygous factor (F) V Leiden carriers, 28,39 two had mildly elevated FVIII, 16,34 and one had decreased antithrombin levels. 24 The majority of patients (64.7%) had left kidney abnormalities, four had arterial hypertension, 19,24,27,36 and one had chronic kidney disease.…”

“…All articles were published between 1998 and 2023. Sixteen articles were from Europe (four from the United Kingdom, 5,10,12,13 three from Italy, 14–16 three from Spain, 17–19 and one each from Belgium, 20 the Netherlands, 21 Switzerland, 22 Romania, 23 Slovakia, 24 and Poland 25 ), nine from North America (eight from the USA 26–33 and one from Canada 34 ), six from Asia (two from China 35,36 and one each from Japan, 37 Iran, 38 Jordan, 39 and the United Arab Emirates 40 ), and one from Australia. 41…”

“…In three patients, anticoagulation had already been stopped at the time of recurrence (after recurrence, long-term therapy was indicated in two patients, 13,30 and anticoagulation was not possible because of intracranial bleeding in others 26 ); for three patients, there were no data on anticoagulation treatment at the time of thrombosis. 17,19,20 Three patients – one on VKA, 22 one on LMWH with antithrombin concentrate, 24 and one on rivaroxaban – were still receiving treatment when recurrence was diagnosed. Medical therapy was stopped without any signs of recurrence only in one patient; however, the follow-up period was only 6 months after drug cessation.…”

“…33 Three patients were smokers, 22,30,39 four had elevated homocysteine levels, 14,16,19,24 two were heterozygous factor (F) V Leiden carriers, 28,39 two had mildly elevated FVIII, 16,34 and one had decreased antithrombin levels. 24 The majority of patients (64.7%) had left kidney abnormalities, four had arterial hypertension, 19,24,27,36 and one had chronic kidney disease. 12 Bilateral thromboses were registered in 55.9%, whereas in 26.5% it was localized on the right side.…”