Patient Education Blog

Posts Tagged ‘Thrombophilia’

Clotting Disorders (Thrombophilia): Who Should Be Tested? What To Test?

| Antiphospholipid antibodies, Antithrombin deficiency, APC resistance, Clotting disorder - thrombophilia, Factor V Leiden, Homocysteine, MTHFR, Inherited (genetic), Protein C deficiency, Protein S deficiency, Prothrombin 20210 mutation, Thrombophilia lab tests, Whom to test | Comments Off on Clotting Disorders (Thrombophilia): Who Should Be Tested? What To Test?

Stephan Moll, MD writes… A publication today in the journal Vascular Medicine discusses – for patients and family members – (a) in which patient with blood clots (DVT, PE) to consider testing for a clotting disorder, (b) what tests might be appropriate to do, (c) how the test results influence management with blood thinners, (d) what birth control methods are safe in women with history of blood clots or a clotting disorder,  and (e) in which family members to consider thrombophilia testing (link here for the article).

 

Disclosures:  None

Last updated: April 1st, 2015

 

 

FAQ: Should I or my family members be tested for genetic causes of blood clotting?

| Clotting disorder - thrombophilia, Uncategorized | Comments Off on FAQ: Should I or my family members be tested for genetic causes of blood clotting?

Some persons have either a genetic (inherited) or acquired predisposition to develop blood clots, known as a thrombophilia or clotting disorder. There are several types of thrombophilias which contribute to varying degrees of clot risk. Read the rest of this entry »

Ischemic Colitis and Thrombophilia

| Clots in unusual locations | Comments Off on Ischemic Colitis and Thrombophilia

 Stephan Moll, MD writes…

Ischemic colitis is an uncommon disorder. It is typically not dangerous and resolves without treatment. For mostly unclear reasons multiple small or tiny blood vessels in the wall of the intestine (the large intestine = colon) have decreased blood flow or become blocked by small blood clots.  This results in a lack of blood flow and oxygen delivery (ischemia = Latin for impaired oxygen supply) to a number of small areas of the intestinal wall.  This leads patchy, superficial damage of the colon wall results.  The damage areas often heal by themselves and no surgery is needed.  The patient recovers spontaneously within a week or two.  Often people have only one episode. Few people have two or more bouts. Read the rest of this entry »

Protein C Deficiency

| Inherited (genetic), Protein C deficiency | 2 Comments »

What is Protein C?

Protein C is a protein in our blood stream, which prevents blood from clotting too much.  It’s a sort of police protein that keeps our clotting in check.  If protein C levels are low, a person will have a tendency to clot more easily.  Elevated levels of protein C, on the other hand, appear to be irrelevant; they do not lead to an increased bleeding tendency.

What Problems Does Protein C Deficiency Cause?
Inherited protein C deficiency increases the risk for blood clots;  Read the rest of this entry »

Pregnancy Loss and Clotting Disorders

| Antiphospholipid antibodies, Antithrombin deficiency, Clotting disorder - thrombophilia, Factor V Leiden, Protein C deficiency, Protein S deficiency, Prothrombin 20210 mutation, Therapy, Women and blood clots | 8 Comments »

How common is pregnancy loss? What are the causes?

Pregnancy loss (= miscarriage) in the general population is common. Most losses occur in the first trimester. As many as 5 % of women have 2 or more early losses; 1-2 % have 3 or more early losses [ref 1]. Well established risk factors for pregnancy loss are: (a) advanced age of the mother, (b) anatomic abnormalities of the uterus (such as fibroids), (c) chromosome abnormalities of fetus, the mother or the father, (d) underlying diseases of the mother (endocrine, immunologic), (e) maternal hormonal unbalances.  The acquired clotting disorder called “antiphospholipid antibody syndrome” is also a risk factor for pregnancy loss. The role of inherited clotting disorders (= thrombophilias) contributing to pregnancy loss is less clear. Read the rest of this entry »

Sinus and Cerebral Vein Thrombosis

| Clots in unusual locations | 38 Comments »

Stephan Moll, MD writes…

Summary

Sinus and cerebral vein clots are uncommon. They can lead to severe headaches, confusion, and stroke-like symptoms. They may lead to bleeding into the surrounding brain tissues. The clot can be triggered by infections of the ear, face, or neck, by estrogen use and pregnancy, and can be caused by inherited and acquired clotting disorders. The diagnosis is, unfortunately, sometimes initially missed by health care professionals, as a plain CT or MRI of the head can be normal. Read the rest of this entry »

Family Member Testing for Thrombophilia

| Clotting disorder - thrombophilia, Factor V Leiden, Inherited (genetic), Protein C deficiency, Protein S deficiency, Prothrombin 20210 mutation, Thrombophilia lab tests | 4 Comments »

Stephan Moll, MD writes…

Background

If a thrombophilia (clotting disorder) has been identified in a patient with blood clots (venous thromboembolism = VTE), the question arises whether other family members should be tested for the same thrombophilia.

My Clinical Approach

My approach in clinical practice to thrombophilia testing in family members is summarized in table 1:  Testing of Family Members. Read the rest of this entry »