Coagulation in Lamin A-C mutations

A-type lamins (lamin A and lamin C) are nuclear envelope proteins which are
encoded by the LMNA gene. Mutations in the LMNA gene are known to cause
different conditions. The diversity of these phenotypes is striking with
features such as premature ageing, axonal neuropathy, lipodystrophy and cardiac
involvement. Recently an association between arterial thrombosis, independent
of the presence of atrial fibrillation, and venous thrombosis and LMNA
mutations was determined. The possible role of hypercoagulation however is not
established yet.

To establish whether carriers of LMNA mutations have a hypercoagulable state
compared to non-affected family members.

Case-control

There is a direct benefit for the lamine A/C patients, since the assessment of
a hypercoagulable state might prompt the lamine A/C working group to chance the
guidelines concerning anticoagulant treatment. The non-carrier family members
will benefit, since a general cardiovascular work-up will lead to a
cardiovascular risk assessment and might lead to treatment if necessary, in
case of high risk or subclinical atherosclerosis. There is no individual risk
involved in this research project. The only inconvenience is the venapuncture.