Familial venous malformations

Common Name(s)

Familial venous malformations

Familial venous malformations are lesions caused by improperly formed veins that may be visible on the skin, in the digestive tract, or in other organs. Due to a genetic mutation or change, veins (which carry blood back to the heart) do not have enough smooth muscle cells. This causes areas of the veins to swell or enlarge. Sometimes, the valves in the veins fail. Blood clots may also form, but they do not tend to travel. Some cases are caused by a mutation or change in the TEK gene but changes in other genes are also believed to be involved. Reported cases have autosomal dominant inheritance, meaning you only need to inherit one changed gene to have the condition (genes come in pairs, one from each parent).

Symptoms may vary based on the location of the lesion. The venous malformations are present at birth but may not be visible because of their location. If the improperly formed vein is close to the skin, the skin may appear blue. Lesions in different veins may affect vision or cause breathing problems. If there is a lesion in the vein of a person’s limbs, the affected limb may be larger than the unaffected limb. The lesion may get bigger or more noticeable for many reasons, including injury, puberty, trauma, infection, and pregnancy.

In order to diagnose familial venous malformations, your doctor will ask questions about your family history. Imaging tests, such as ultrasounds, MRIs, and CT scans are used to confirm the diagnosis. Treatment options may include using compression garments, blood-thinning medication, injections, or surgery. However, many venous malformations do not need treatment. Research is ongoing, so talk to your doctor about what current treatment options are right for you. A genetic counselor can help explain how the condition runs in families and what testing options are available. Support groups can be a good source of information and means of connecting to others for support.

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Advocacy and Support Organizations

 

Condition Specific Organizations

Following organizations serve the condition "Familial venous malformations" for support, advocacy or research.

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General Support Organizations

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Scientific Literature

Articles from the PubMed Database

Research articles describe the outcome of a single study. They are the published results of original research.
The terms "Familial venous malformations" returned 3 free, full-text research articles on human participants. First 3 results:

Familial versus sporadic cavernous malformations: differences in developmental venous anomaly association and lesion phenotype.
 

Author(s): T A Petersen, L A Morrison, R M Schrader, B L Hart

Journal: AJNR Am J Neuroradiol. 2010 Feb;31(2):377-82.

 

CCMs are commonly associated with DVAs, but the incidence of association in familial CCM is unknown. The presence of a DVA significantly complicates surgical management of a CCM because of the risk of compromised venous drainage. In this investigation, we compared the incidence of ...

Last Updated: 31 Dec 1969

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Cutaneous venous malformations in familial cerebral cavernomatosis caused by KRIT1 gene mutations.
 

Author(s): Agustí Toll, Elisabet Parera, Ana M Giménez-Arnau, Alejandro Pou, Josep Lloreta, Nisha Limaye, Miikka Vikkula, Ramon M Pujol

Journal: Dermatology (Basel). 2009 ;218(4):307-13.

 

Cerebral cavernous malformations (CCMs) are vascular lesions characterized by abnormally enlarged capillary cavities without intervening brain parenchyma. Although often asymptomatic, seizures, cerebral haemorrhages and focal neurological deficits are well-documented complications. ...

Last Updated: 31 Dec 1969

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A gene for familial venous malformations maps to chromosome 9p in a second large kindred.
 

Author(s): C J Gallione, K A Pasyk, L M Boon, F Lennon, D W Johnson, E A Helmbold, D S Markel, M Vikkula, J B Mulliken, M L Warman

Journal: J. Med. Genet.. 1995 Mar;32(3):197-9.

 

Venous malformations are a common form of vascular anomaly that cause pain and disfigurement and can be life threatening if they involve critical organs. They occur sporadically or in a familial form, where multiple lesions are usually present. We have identified a large kindred showing ...

Last Updated: 31 Dec 1969

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Reviews from the PubMed Database

Review articles summarize what is currently known about a disease. They discuss research previously published by others.
The terms "Familial venous malformations" returned 0 free, full-text review articles on human participants.

 
 
 
 
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Clinical Trial Information This information is provided by ClinicalTrials.gov

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