Factor II Deficiency

Factor V Leiden (FVLD) Deficiency: What Is It?

The FVLD is a genetic disorder caused by mutations in the gene for factor V Leiden. This gene plays a crucial role in the body’s ability to produce vitamin K2, which helps with blood clotting. Without enough vitamin K2, your bones will not grow properly and you may develop osteoporosis later in life. If you have the FVLD, your bone density may be reduced even if you are otherwise healthy. You may also experience other health problems such as heart disease, high cholesterol levels or stroke.

People with the FVLD usually suffer from multiple organ failure and die within a few years of their diagnosis. There is no cure for it because there is currently no known cause of its development. However, treatment options include dietary changes and medication.

What Are Some Symptoms Of The FVLD?

Most people with the FVLD do not show any symptoms until they are older than 60 years old. They may have:

Weakness or numbness in some parts of their bodies. These areas could be affected even if they don’t feel pain at first. They might lose feeling in these areas when walking or climbing stairs.

Headaches that get worse when they bend their heads forward.

Difficulty having bowel movements or in passing urine. They may also feel the need to go to the bathroom more often than usual.

Muscle pain or cramps, usually in their thighs and calves.

Unusual fractures of their arms or legs that happen without making any sudden movements.

Bones in their arms and legs may get thinner than normal and feel more flexible than they should.

Swollen red or purple spots on the soft tissues under their skin.

Anemia, which means that they do not have enough red blood cells to carry adequate amounts of oxygen to their body’s organs and tissues.

Atherosclerosis, meaning that their arteries are clogged up with plaque. They may experience chest pain and shortness of breath. Arrhythmia is also a possibility, which means that their heart is beating irregularly and too quickly.

Memory loss and confusion, along with other mental disorders. These may be signs of either Alzheimer’s or another dementia-related condition.

People with the FVLD often die suddenly due to a heart attack or stroke. They may also suffer from aneurysms that can be life-threatening.

What Causes The FVLD?

The FVLD is caused by a mutated gene known as the F5 gene. This gene is involved in regulating your body’s blood clotting process and vitamin K levels. A mutation in this gene causes it to make little or no factor V, hence the name FVLD. People with the FVLD have a higher risk of serious complications from injury or bleeding than people without it.

Those who have inherited the mutated FVLD gene from either parent are known as homozygous individuals. If they develop the condition, it is present in two copies and is referred to as classic FVLD. If they only have a single mutated copy of this gene and no other abnormal FVLD genes, they are known as heterozygous individuals.

Around 50 percent of people with the FVLD are male and 50 percent are female. It tends to be more common in people of African heritage and certain ethnic groups such as the Inuits or the Québécois.

The condition is usually found during the course of an investigation into why someone has an unexplained, spontaneous bleeding tendency. For example, a person may experience easy bruising or bleeding from their gut, but it is often not until one of these major life-threatening bleeds occurs that the condition is identified.

How Is The FVLD Treated?

People with the FVLD should not take any medications that contain vitamin K, as these could be dangerous. Anticoagulant medication to prevent life-threatening blood clots is also essential in preventing certain complications of the disease.

Blood transfusions may be needed if someone has a severe loss of blood, but this isn’t always effective and can carry its own risks.

Pregnant women with the FVLD should be especially carefully monitored and could possibly require treatment with a blood-thinning medication.

What Is The Long-Term Outlook?

Without medical intervention, people with the FVLD have a rapidly worsening outlook. Even minor injuries can become life-threatening, and those with the condition need to seek immediate medical attention if they suffer any injury that results in heavy bleeding.

The life expectancy of someone with the classic FVLD is around 40 years.

Sources & references used in this article:

Association of hereditary heparin co-factor II deficiency with thrombosis by TH Tran, GA Marbet, F Duckert – The Lancet, 1985 – Elsevier

Constitutional heparin co-factor II deficiency associated with recurrent thrombosis by P Sie, J Pichon, D Dupouy, B Boneu – The Lancet, 1985 – Elsevier

Catastrophic haemorrhage in a case of paediatric primary antiphospholipid syndrome and factor II deficiency by N Hudson, CM Duffy, J Rauch, JD Paquin… – Lupus, 1997 – journals.sagepub.com

A growth-deficiency phenotype in heterozygous mice carrying an insulin-like growth factor II gene disrupted by targeting by G Follea, B Coiffier, JP Viale… – Thrombosis and …, 1981 – Schattauer GmbH

A novel DNA-binding regulatory factor is mutated in primary MHC class II deficiency (bare lymphocyte syndrome). by TM DeChiara, A Efstratiadis, EJ Robertsen – Nature, 1990 – nature.com

Hereditary angioneurotic edema: II. Deficiency of inhibitor for serum globulin permeability factor and/or plasma kallikrein by O De Bastos, RS Reno, OT Correa – Thrombosis and …, 1964 – Schattauer GmbH

A severe neonatal presentation of factor II deficiency by V Steimle, B Durand, E Barras, M Zufferey… – Genes & …, 1995 – genesdev.cshlp.org

Hereditary heparin cofactor II deficiency and the risk of development of thrombosis by NS Landerman, ME Webster, EL Becker, HE Ratcliffe – Journal of Allergy, 1962 – Elsevier