Image via Wikipedia

March is National Colorectal Cancer Awareness Month

As March is National Colorectal Cancer Awareness Month, it is a good time be reminded that an estimated 15%-20% of all colorectal cancer cases are believed to be hereditary (passed down in families), and about 3% of all cases are believed to caused by a condition called Lynch syndrome.

What is Lynch Syndrome?

Lynch syndrome (also known as hereditary nonpolyposis colorectal cancer or HNPCC) is associated with a predisposition to cancers of the digestive tract, particularly the colon (large intestine) and rectum. People with Lynch syndrome have an increased risk to develop cancers of the stomach, small intestine, liver, gallbladder ducts, upper urinary tract, brain, skin, and prostate. Affected women also have a high risk to develop cancers of the endometrium (lining of the uterus) and ovaries.

• First degree relatives (parents, children, sisters, brothers) of people with Lynch syndrome have a 50% chance to also have Lynch syndrome.
• Second and third degree relatives, such as grandparents, aunts, uncles, cousins, nieces and nephews, are also at increased risk.

Once a mutation that causes Lynch syndrome has been identified, other family members have the option of persuing genetic testing to determine if they also have the mutation. Relatives with a Lynch syndrome mutation can lower their overall risk of developing or dying from colorectal cancer by having earlier and more frequent colonoscopies.

When to See a Genetic Professional:

Talk to a cancer genetic professional for evaluation of Lynch syndrome and other hereditary cancer syndromes if you have a personal or family historyof one or more of the following::

• Early-onset colorectal cancer (diagnosed under 50)
• 10 or more colorectal or gastrointestinal polyps in the same person
• 5 or more colorectal polyps in a young person
• Early-onset endometrial (uterine) cancer (diagnosed under 50)
• Multiple cases of colorectal , uterine , pancreatic , ovarian and/or associated gastrointestinal cancers in your family

What You Can Do:

• Use our Family Health History tool to record your family health history to share with family members and your doctors
• Help us promote Colorectal Cancer Awareness by sharing this blog post with your friends and loved ones on facebook and twitter
• Talk to your doctor about your family history and cancer screening options
• Make an appointment for telephone-based genetic counseling due to a personal or family history of colorectal cancer, call 1-888-544-3639 or schedule an appointment online.

Related articles

• 5 Risk Factors for Colorectal Cancer (enbloommedia.com)
• Lynch Syndrome and Uterine Cancer Risk (everydayhealth.com)
• March is Colorectal Cancer Awareness Month (aa47.wordpress.com)
• Aspirin’s ability to protect against colorectal cancer may depend on inflammatory pathways (physorg.com)
• March is Colorectal CancerAwareness Month (brewertonpharmacy.wordpress.com)
• Colorectal Cancer Statistics and recommendations (nextbigfuture.com)

——————————————————————————————————————————————–

Our blog is a resource for people and families looking for information on hereditary (inherited) disease and interesting news in health and genetics. Inherited Health’s Family Health History tool makes it easy for families to collect and maintain their family medical history. With this tool, you can make a family tree of your health and get guidance on inherited disease risks in your family, which we identify for you. Start taking charge of your health.

At the end of last night’s episode, House was torn between his love for Cuddy and his ability to somehow save every patient he ever treats.  This week’s patient, Bert, presented with a rash, hearing loss, kidney failure, fever and hallucinations; however, House’s diagnosis of  Muckle-Wells syndrome came a little too late.

What is Muckle-Wells syndrome?

Muckle-Wells syndrome is a genetic disease characterized by periodic episodes of skin rash, fever, and joint pain. Progressive hearing loss and kidney damage also occur in this disorder.

People with Muckle-Wells syndrome have recurrent “flare-ups” that begin during infancy or early childhood. These episodes may appear to arise spontaneously or be triggered by cold, heat, fatigue, or other stresses. Affected individuals typically develop a non-itchy rash, mild to moderate fever, painful and swollen joints, and in some cases redness in the whites of the eyes (conjunctivitis).

Hearing loss caused by progressive nerve damage (sensorineural deafness) typically becomes apparent during the teenage years. Abnormal deposits of a protein called amyloid (amyloidosis) cause progressive kidney damage in about one-third of people with Muckle-Wells syndrome; these deposits may also damage other organs. In addition, pigmented skin lesions may occur in affected individuals.

More on Muckle-Wells syndrome

Muckle-Wells syndrome is caused by mutations in the the NLRP3 gene (also known as CIAS1). The condition is typically inherited in an autosomal dominant pattern, which means one copy of the altered gene in each cell is sufficient to cause the disorder. In some cases, the inheritance pattern is unknown.

Related articles

• House t.v. show increases Inherited Health’s traffic for rare disease (inheritedhealth.com)
• House – Episode 14 (Season 7): “Recession Proof” (politedissent.com)
• Inherited Health Featured on Kurt the CyberGuy (inheritedhealth.com)
• House Challenge – Week 12 (politedissent.com)
• House – Episode 12 (Season 7): “You Must Remember This” (politedissent.com)

If you have a family history of breast cancer, it is important to talk with your doctor about when you should begin receiving regular breast cancer exams and/or mammograms.

It is important to speak with a cancer genetic professional or counselor, if you have a personal or family history of one or more of the following:

• Early-onset breast cancer, which is breast cancer that is diagnosed under age 50
• Ovarian cancer at any age
• Two or more primary breast cancers in the same person
• Breast and ovarian cancer in the same person
• Male breast cancer
• Breast cancer at any age and of Ashkenazi Jewish ancestry
• Multiple cases of breast, ovarian, prostate and/or pancreatic cancer

Related articles

• BRCA1 and BRCA2 Genes: More than Breast Cancer (inheritedhealth.com)
• BRCA1 and BRCA2 Genetic Testing: How it Works (Video) (inheritedhealth.com)
• Male Breast Cancer (everydayhealth.com)
• Genetic Testing for Breast Cancer (everydayhealth.com)
• Male breast cancer: Policeman Mark Cross swaps fighting crime to fighting disease (dailymail.co.uk)

I am obsessed with the television show House.  Even though the stories are exaggerated and often filled with clinical inaccuracies, the most difficult and perplexing cases inevitably end up having a genetic cause.

For example — take last night’s episode about a women with obsessive compulsive disorder, chorea,  kidney failure, etc. House’s diagnosis: McLeod neuroacanthocytosis syndrome

Also known as McLeod syndrome, McLeod neuroacanthocytosis syndrome is a genetic disorder that occurs almost exclusively in males (sorry House MD). This disorder affects movement in various parts of the body. People with this condition also have abnormal star-shaped red blood cells (acanthocytosis). This condition is one of a group of disorders called neuroacanthocytoses that involve neurological problems and abnormal red blood cells.

McLeod syndrome is rare. As only 150 cases have been reported worldwide, you can imagine it is not a commonly searched disease on the Inherited Health website. However,  this morning I was excited to see that the most popular destination yesterday on the Inherited Health website was our page on McLeod syndrome — representing over 13% of all pageviews.

The most common searched keywords were:

• mcleod syndrome symptoms
• mcleod syndrome
• mcleods disease symptoms
• mccloud’s syndrome
• symptoms mcleod syndrome
• mcleod syndrome” symptoms + disorder
• +mcleod’s syndrome
• a disease known as mcleod syndrome
• autoimmune disease mcleod
• macleod’s syndrome

It seems like there is really something to be said about the power of television.

Related articles

• House – Episode 12 (Season 7): “You Must Remember This” (politedissent.com)
• Inherited Health Featured on Kurt the CyberGuy (inheritedhealth.com)

Whenever possible, genetic testing should be performed on the person in the family who is most likely to have a BRCA1 and BRCA2 mutation or other type of hereditary cancer syndrome. If a mutation is found in that person, genetic testing can then be offered to family members without cancer to determine their cancer risks.

It is important to understand that positive genetic testing does not mean that cancer is inevitable. If a woman does test positive for a mutation, there are some steps she may want to take. There are the options of more rigorous screening, preventive medications as well as removal of the ovaries and/or breasts in order to decrease her cancer risk.

On the other hand, negative genetic testing does not mean that a person will never develop cancer. In some cases, negative genetic testing may not even lower breast or ovarian cancer risk if other factors, like a strong family history, are still present.

Genetic testing for hereditary cancer can be complex. As such, it is important to speak with a trained genetic professional who can discuss the risks, benefits, and limitations of all genetic testing options as well as any possible screening and preventative measures.

Related articles

• BRCA1 and BRCA2 Genes: More than Breast Cancer (inheritedhealth.com)
• What is Genetic Testing? (inheritedhealth.com)
• What is Cystic Fibrosis (CF) Carrier Testing? (Video) (inheritedhealth.com)
• Who Are Genetic Counselors? Who Are Medical Geneticists? (Video) (inheritedhealth.com)
• What to Expect at a Genetic Counseling Appointment (inheritedhealth.com)
• BRCA Genetic Testing: What You Need to Know (everydayhealth.com)