Shedding light on a rare bile duct cancer for the second annual Rare Cancer Day

While there is growing public awareness about cancer in general, there are many types of cancer that are not well known or are misunderstood.

On September 30, the National Organization for Rare Disorders (NORD) and its Rare Cancer Coalition are spearheading the second annual Rare Cancer Day.

This awareness day aims to activate, inspire and educate the public about the rare cancers that can affect people’s health.

One of those rare cancers is cholangiocarcinoma (CCA). CCA is a rare cancer that forms in the bile ducts, which are tubes connecting the gallbladder and liver to a person’s small intestine. These tubes carry bile (a fluid made in the liver that helps the body digest the fat in food) to the small intestine after a person eats, aiding in digestion.[1]

How rare is CCA?

According to the American Cancer Society, fewer than 10,000 people in the U.S. are diagnosed with CCA each year.[2]

What are the risk factors for CCA?

The following may increase one’s risk of CCA[3]:

  • Smoking
  • Being over 50 years old
  • Primary sclerosing cholangitis, a condition which causes hardening and scarring of the bile ducts
  • Congenital bile duct problems such as a choledochal cyst
  • Chronic liver disease

Symptoms of CCA

Unfortunately, CCA is hard to diagnose, because many of the symptoms resemble other, more common health issues. Therefore, CCA is often overlooked by doctors.[4]

You should see your doctor if you are experiencing any of the following symptoms, which could be signs of CCA — or other potentially serious health concerns[5]:

  • Jaundice (yellowing of the skin or whites of the eyes)
  • Dark urine
  • Clay-colored stool
  • Abdominal pain
  • Fever
  • Itchy skin
  • Nausea and vomiting
  • Unexpected weight loss
  • Night sweats
  • Fatigue
  • General discomfort and weakness

Because of the difficulties in diagnosing CCA correctly, the disease is often not diagnosed until it has reached an advanced stage or metastasized, after doctors have taken a lot of time and effort to conduct additional testing to eliminate other possible causes of a patient’s symptoms. The late diagnosis of CCA can then limit the patient’s potential treatment options, resulting in a poor prognosis.[6]

Managing CCA

Surgery, or resection, is one of the only potentially curative treatments for CCA, but many patients are ineligible — and even after surgery, relapse rates are high.[7]

However, it is possible to evaluate patients’ disease once they’ve been diagnosed with CCA and has been deemed ineligible for surgery, which in turn could open the door to more options. Called molecular profiling, this technique can help doctors identify unique gene changes or defects in a person’s tumor.[8]

If you have recently received a diagnosis for CCA, ask your doctor about the possibility of conducting molecular profiling. Identifying the exact type of mutations or abnormalities in rare cancer types such as CCA can help healthcare providers better understand the disease, and therefore offer treatment, resulting in better health outcomes for the patient.

Awareness of rare cancers is the first step. In recognition of the day, NORD encourages everyone to broaden their knowledge of rare cancers and to support and advocate for the rare cancer community — not only on Rare Cancer Day, but every day. To learn more about molecular testing for CCA in particular, visit TestMyCholangio.com.

Developed by Incyte Corporation.

[1] “Cholangiocarcinoma: Definition.” National Institutes of Health. https://ghr.nlm.nih.gov/condition/cholangiocarcinoma#definition. Accessed 8/21/2020.

[2] “Key Statistics for Bile Duct Cancer.” American Cancer Society. https://www.cancer.org/cancer/bile-duct-cancer/about/key-statistics.html. Accessed 8/21/2020.

[3] “Cholangiocarcinoma (bile duct cancer).” Mayo Clinic. https://www.mayoclinic.org/diseases-conditions/cholangiocarcinoma/symptoms-causes/syc-20352408. Accessed 8/21/2020.

[4] Banales JM, et al. Nat Rev Gastroenterol Hepatol. 2016;13:261?280.

[5] “Signs of bile duct cancer include jaundice and pain in the abdomen.” NIH: National Cancer Institute. https://www.cancer.gov/types/liver/patient/bile-duct-treatment-pdq. Accessed 8/21/2020.

[6] Uhlig J, et al. Ann Surg Oncol. 2019;26:1993–2000.

[7] Valle JW, et al. Cancer Discov. 2017; 7(9); 943–62.

[8] Lowery M, et al. Clin Cancer Res. 2018;24(17):4154-4161.

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