Is Lynch Syndrome An Autoimmune Disease?

Various diseases occur due to the genetic mutation such as Down’s syndrome and cystic fibrosis. Lynch syndrome is one such disease occurring due to the mutation in DNA mismatch repair genes. The symptoms of this syndrome are neither fatal nor non-manageable, but the important risk related to this disease is development of cancer. With proper care and examination, the risk can be reduced.

Is Lynch Syndrome An Autoimmune Disease?

Lynch syndrome is caused due to the genetic mutation in the DNA repairing genes. The person affected with this mutation has the compromised ability to correct the mistakes in DNA. This leads to increase in risk of various cancers such as colorectal cancer, endometrial cancer and stomach cancer. Autoimmune disease is the condition wherein the immune system of the body starts attacking its own organs leading to structural and physiological dysfunction of the organ. Some examples of autoimmune disease are rheumatoid arthritis, Systemic Lupus Erythematosus and Multiple Sclerosis. Although it has certain characteristics of the Crohn’s disease, which is an autoimmune disease, such as excessive production of mucin and signet cell features, but the basic pathophysiology is quite different in both the disease. There are studies that suggest that the mutation in the defects in DNA mismatch repair genes may lead to autoimmune disease as the immune system does not sufficiently eliminate the self-reactive T cells. However, the Lynch syndrome does not itself is an autoimmune disease nor it contributes to the development of autoimmune disease.

Lynch Syndrome Causes

Lynch syndrome is caused due to the genetic mutation in the DNA mismatch repair genes. The genes involved in Lynch syndrome are MLH1, MSH2, MSH6 and PMS2. EPCAM gene is sometimes involved in the Lynch syndrome. The mutation in a particular gene determines the increase in risk of developing cancer and its prognosis. The risk of various cancer such as colorectal cancer, hepatic cancer, urinary tract cancer and stomach cancer depends upon the gene in which mutation has been occurred. Further, the female is also at risk of ovarian cancer and endometrial cancer due to Lynch syndrome. It has been found that men are more prone to colorectal cancer as compared to female.

Mutation in gene MLH1, and MSH2 causes greater risk of contracting cancer as compared to mutation in other genes. The increased risk of colorectal cancer due to Lynch syndrome is as high as 70%. Lynch syndrome is not said to an autoimmune disease as the immune system is not involved in the disease rather it is genetic disease involving mutation of various genes. It has to be noted that Lynch syndrome does not essentially causes cancer but increases the risk of cancer. Although no prophylactic treatment is available which can prevent the occurrence of this disease but there are certain measures which can be implemented so as to reduce the risk of progression of lynch syndrome to cancer. These measures include periodic screening and examination, surgical intervention, and changes in lifestyle and the diet.

Lynch Syndrome Symptoms

Lynch syndrome runs in families as it is linked to autosomal dominant gene. Generally, there are no characteristic symptoms rather majority of the diagnosis takes place when one of the family members develops cancer due to Lynch syndrome. The diagnosis of the close relatives of the patient is done to confirm the presence of Lynch syndrome. Following are the symptoms that may be present in the patient with Lynch syndrome:

If the patient experiences any of the above symptoms, healthcare professional should be consulted as soon as possible.


The autoimmune disease occurs when the immune system of the body loses its capacity to differentiate between the foreign tissue and the body’s own tissue and attack on the internal organs. The pathophysiology of the Lynch syndrome is different in the way that Lynch syndrome is a genetic syndrome and occurs due to gene mutation. Thus, it can be concluded that Lynch syndrome is not an autoimmune disease.

Also Read:

Pramod Kerkar, M.D., FFARCSI, DA
Pramod Kerkar, M.D., FFARCSI, DA
Written, Edited or Reviewed By: Pramod Kerkar, M.D., FFARCSI, DA Pain Assist Inc. This article does not provide medical advice. See disclaimer
Last Modified On:November 12, 2018

Recent Posts

Related Posts