Protein S Deficiency

Overview

Protein S deficiency is a disorder of blood clotting. People with this condition have an increased risk of developing abnormal blood clots. Individuals with mild protein S deficiency are at risk of a type of clot called a deep vein thrombosis (DVT) that occurs in the deep veins of the arms or legs.

What are the symptoms of protein S deficiency?

People with protein S deficiency may experience:

1.A blood clot in the legs or DVT (most common).

2.Blood clots during pregnancy.

3.Pulmonary embolism.

4.It may cause a stroke in a child with the severe form of the disorder.

What causes protein S deficiency?

A mutation or change in your PROS1 gene causes a protein S deficiency. This is an inherited problem, which means you get it from one or both parents. You will have a mild protein S deficiency if you get it from one parent or severe protein S deficiency if you get protein S gene mutations from each parent. If you have a PROS1 mutation, you have a 50% chance of passing it on to each of your children.

The acquired form of protein S deficiency is more common and can be seen in the following situations or conditions:

1.Liver disease.

2.Kidney disease.

3.Nephrotic syndrome.

4.Chemotherapy.

5.Infections.

6.Surgery.

7.A lack of vitamin K.

8.Taking birth control pills.

9.Pregnancy.

How is protein S deficiency diagnosed?

Your provider may suspect you have a protein S deficiency if:

1.There’s a strong family history of venous thromboembolism.

2.You keep getting blood clots.

3.You had a blood clot before age 50 that doesn’t have a clear cause.

4.You have a venous thrombosis in an unusual place (brain, intestines or liver).

To diagnose you, your provider will want:

1.Blood tests.

2.A physical exam.

3.Your medical history.

How is protein S deficiency treated?

Your healthcare provider will want to treat you with a blood thinner or anticoagulant if you’ve had a venous thrombosis. If your provider finds you have protein S deficiency but haven’t had a blood clot, you are unlikely to require treatment except under certain circumstances.

Anticoagulants in common use include heparin, warfarin, rivaroxaban, apixaban and dabigatran. If your provider selects warfarin, they have to start heparin first to prevent a complication in which there is widespread clotting, including in the skin and soft tissues. However, this isn’t necessary with the other anticoagulants. Your provider will continue treatment for several months or the rest of your life depending on the circumstances in which your blood clot occurred.

If you have the mutation for protein S deficiency but haven’t had a blood clot, your provider will want to keep you from getting one. They may tell you not to take certain medicines like birth control pills that can promote blood clotting.

You may also need to take a blood thinner when:

1.You’re having surgery.

2.You’re pregnant.

3.You have trauma.

4.You’re not able to move around.

How do I take care of myself?

If you’re taking warfarin, you’ll need to keep getting the INR blood test weekly or monthly so your provider can be sure you’re getting the right dose. The amount of warfarin you take today may be different from the amount you take in two months. The goal is to take the right amount of warfarin to prevent dangerous clots but also prevent a bleeding complication. Your provider will also monitor you if they’re giving you heparin in the hospital, but won’t need to monitor you as closely for other anticoagulants.

How soon after treatment will I feel better?

When your provider gives you heparin through an IV, it works in a few minutes. Warfarin can take up to a week to work, so your provider may not release you from the hospital until your INR is in the correct range.

How can I prevent protein S deficiency?

If you were born with a protein S deficiency, you can’t prevent it. However, many people with this deficiency never have a blood clot. You may not be able to avoid the medical conditions that can cause acquired protein S deficiency, but you can avoid birth control pills and make sure you get enough vitamin K.

What can I expect if I have protein S deficiency?

People with this disorder can have different experiences with it, so it’s difficult to predict your risk of blood clots, how bad the symptoms will get, how often you’ll get them or at what age they could start. Newborn babies who have the severe form of protein S deficiency can get blood clots in their small blood vessels (purpura fulminans), which can be fatal if it’s not treated.

How long does protein S deficiency last?

If you inherited a protein S deficiency, you’ll have it for life. If you acquired protein S deficiency, it should go away when the condition that caused it is gone.

When should I see my healthcare provider?

If you’re taking an anticoagulant, call your provider when you fall or have abnormal bleeding, such as a nosebleed or blood in your pee or poop. Also, call your provider if you think you’re having a deep vein thrombosis.

What questions should I ask my doctor?

1.Will I need to take a blood thinner for the rest of my life?

2.Do I have a mild or severe case of protein S deficiency?

3.Is my case inherited or acquired?

How serious is protein S deficiency?

Protein S deficiency is a rare pathology that can be acquired or is congenital. The most significant morbidity of protein S deficiency is that it predisposes patients to blood clots in the legs, brain, intestine, and lungs. Also, the condition can lead to premature birth and other complications during pregnancy.

Can protein deficiency cause leg pain?

Muscle weakness or joint pain.

In one study, older men and women who consumed a low amount of protein were found to have an increased rate of muscle loss3 . Animal protein in particular is good for joints, as the collagen in these protein sources has been shown to alleviate joint pain.