Laboratory for Molecular Diagnostics
Center for Nephrology and Metabolic Disorders

Thromboembolic diseases

Hereditary diseases or conditions with increased risk of thromboembolic complications are summarized on this page, which includes venous thrombosis and pulmonary embolism. In rare cases of atrial septal abnormalities, paradoxical embolism may occur, which results in cerebral emboli.

Epidemiology

Among cardiovascular diseases, thromboembolic diseases are the third most common. The incidence is 0,1% per year.

Pathogenesis

Thromboembolic diseases exemplify the interplay of inherited and acquired conditions. Acquired risk factors include advanced age, prolonged immobilization, surgery, fractures, oral contraceptives and other forms of hormone replacement therapy, pregnancy und delivery, malignancies, infectious diseases, and antiphospholipid syndrome. More than half of patients with thromboembolic diseases also possess genetic risk factors. This rate is exceptionally height in cases younger than 45 years and thrombosis at atypical sites. All conditions with increased risk for thromboembolic disease are called thrombophilia or hypercoagulability.

Systematic

Hereditary vascular disease
Arteriosclerosis
Diabetic microangiopathy 4
Generalized arterial calcification of infancy
Hereditary Angioedema
Hereditary lymphedema
STING-associated vasculopathy with onset in infancy
Sneddon syndrome
Susceptibility to arteriovenous malformations of the brain
Thromboembolic diseases
Autosomal dominant protein C deficiency
PROC
Autosomal dominant protein S deficiency
PROS1
Autosomal recessive protein C deficiency
PROC
Autosomal recessive protein S deficiency
PROS1
F2
F5
Factor XII deficiency
F12
HABP2
Hyperhomocysteinemic thrombosis
CBS
Hypoplasminogenemia
Dysplasminogenemia
PLG
Hypoplasminogenemia
PLG
MTHFR
PAI transcription modulator
SERPINE1
Protein Z deficiency
PROZ
SERPINA10
SERPINC1
THBD
Thrombophilia due to heparin cofactor 2 deficiency
SERPIND1
VKORC1
Vasculitis due to ADA2 deficiency

References:

1.

None (2001) Hypercoagulability syndromes.

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2.

Franco RF et al. (2001) Genetic risk factors of venous thrombosis.

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3.

Wikipedia article

Wikipedia EN (Thrombophilia) [^]
Update: May 10, 2019