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I didn’t drink in excess, or smoke, or have diabetes, or have high cholesterol, or high blood pressure, or obesity, the main reasons why people have a stroke. I’ll get to point, eventually. But first, some background.

Congenital Protein C or S deficiency is an inherited disorder.

This means it is passed down through families. Congenital means it is present at birth.

The disorder causes abnormal blood clotting. One in 300 people has one normal gene and one faulty gene for protein C deficiency. Protein S deficiency is much less common and occurs in about 1 in 20,000 people. But overall, it’s frequent, considering there are about 330 million in the US alone.

If you have this condition, either deficiencies of S and C, you are more likely to develop blood clots. The symptoms are the same as for deep vein thrombosis (DVT) and include:

Pain or tenderness in the affected area
Redness or swelling in the affected area

Warm around affected area
The diagnosis during the first year, when I was in the dreaded Bacharach Rehabilitation Hospital in Pomona, New Jersey, the doctor said I had a Heparin reaction, known as Heparin Allergy (that is a misnomer since it’s not an allergy at all in the most practical sense) that caused my stroke. Another doctor a few years later said he couldn’t give me a reason. The fifth hematologist gave me the information: I had crummy genes that produced deficiencies in Proteins C and S from most likely my mother and father. And now you know.

 

Medscape’s Mohammad Muhsin Chisti, MD, says, “Protein S is a vitamin K–dependent anticoagulant protein that was first discovered in Seattle, Washington, in 1979 and arbitrarily named after that city. The major function of protein S is as a cofactor to facilitate the action of activated protein C.

“Protein S deficiency may be hereditary or acquired; the latter is usually due to hepatic disease or a vitamin K deficiency. Protein S deficiency usually manifests clinically as venous thromboembolism (VTE).” Stroke, in other words.

The National Institutes for Health (NIH) says, “Protein S functions as a cofactor of activated Protein C. Its deficiency is a rare condition and can lead to deep vein thrombosis, pulmonary embolism or stroke. Protein S deficiency manifests as an autosomal dominant trait.” [Explanation needed: To have an autosomal recessive disorder, you inherit two mutated genes, one from each parent. These disorders are usually passed on by two carriers.]

But the good news is there’s a test for Protein S and C deficiencies, and who wouldn’t want to know! A family member who shall remain nameless heard of my research into Protein S and C deficiencies, but he allowed the doctor to talk him out of it like the ostrich-head-in-the-sand approach.

If you really knew of those Protein S and C deficiencies, wouldn’t you change your lifestyle a bit, like cut out all the causes mentioned in the very first paragraph?

As I wrote in Northwest Brain Network newsletter recently:
Stroke is an event usually caused by rupture of a blood vessel or blockage by a clot, resulting in the lack of supply of oxygen and nutrients, and damage to the brain tissue. Even if you are not a candidate for stroke, or don’t know why you had one, this news might help you. 

Deficiency of Proteins C and/or S can lead to bleeding, but the good news is there is a test you may consider if you develop a blood clot and have a family member who is healthy with a deficiency of one or both of these natural anticoagulants. Testing healthy relatives of people with a natural anticoagulant deficiency of C and S has advantages which may include increased awareness of the risk factors for and symptoms of blood clots.

Recognizing the symptoms of a
Deep Vein Thrombosis (DVT) or Pulmonary Embolism (PE) allows for prompt treatment to minimize the risk of lasting side effects. It is important to work with your doctor to understand your individual risk, preventive strategies including not smoking, lowering your weight, and achieving cholesterol and blood pressure in the safe range, and therapeutic options in the event of a DVT or PE from deficiencies of Protein C and S. 

Joyce Hoffman

Joyce Hoffman

Joyce Hoffman is one of the world's top 10 stroke bloggers according to the Medical News Today. You can find the original post and other blogs Joyce wrote in Tales of a Stroke Survivor. (https://talesofastrokesurvivor.blog)
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