Whether you’ve just been diagnosed with ITP, or have been living with the autoimmune condition for some time, you may wonder if the disease was passed on to you through your family—and if there’s a chance you’ll pass on ITP to future generations.
Currently, ITP is not usually considered an inherited disease. If multiple family members have been diagnosed with ITP, the hematologist should verify that the cause of low platelets is truly autoimmune and is not due to an inherited disorder that affects platelet production.
When Genes Affect Your Platelets
Sometimes people are diagnosed with primary ITP when they have an entirely different form of the disease. Known as inherited or familial thrombocytopenia, low platelets are caused by a genetic mutation, not by autoantibodies, as is the case with primary ITP. Getting the right diagnosis is extremely important to avoid unnecessary treatments, receive the most effective care and manage the risk of related symptoms.
Some types of inherited thrombocytopenia are easy to spot by an experienced hematologist. Blood tests may show the platelets to be almost as large as red blood cells or very small, and are often accompanied by additional physical problems. But other cases are very difficult to diagnose or go undiagnosed because there are no specific tests to identify this group of diseases. The platelet size may be normal, several genes may be involved, and not everyone who carries the gene mutations has symptoms, including the parents.
- Dr. Michele Lambert, Philadelphia, Pennsylvania
Connecting Genetic Coincidence
The most important factor in advancing research regarding the link between genetics and ITP is you. Your family health history is an important component of a primary care visit to help tell the story of many common, chronic conditions as well as rare genetic disorders.
To help determine the possibility of inherited thrombocytopenia, your doctor may consider:
- Have the platelets always been low?
- Do they look different?
- Is there a history of low platelets or treatment for ITP in the family?
- Does the person have other congenital abnormalities?
Track Your Family History
To help your doctor understand your condition and make the proper diagnosis, below are some tools to record and track your family's health history:
- Does It Run In The Family? (Genetic Alliance)
- My Family Health Portrait (Office of the Surgeon General)
If you suspect genetics are a factor in causing low platelet counts in you or your family member, contact the below resources:
- Dr. Terry Gernsheimer, Seattle, Washington
- Dr. Michele Lambert, Phildadelphia, Pennsylvania
- ITP Registry, London
- MYH9 Related Diseases Registry, Italy
(This section is based on Dr. Amy Geddis' presentation at the 2011 ITP Conference)
"Genes in Life" is a place to learn about the influence of genetics on your life. On the site you will learn how genetics affects you and your family, why you should talk to your healthcare providers about genetics, how to get involved in genetics research, and much more!
- Family Health History Awareness and Collection