Hereditary nonpolyposis colorectal cancer history and symptoms: Difference between revisions
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==Overview== | ==Overview== | ||
The hallmark of hereditary nonpolyposis colorectal cancer is | The hallmark of [[hereditary nonpolyposis colorectal cancer]] is a first-degree relative with known [[MMR]]/EPCAM [[gene]] [[mutation]]. A positive [[family history]] of [[colorectal cancer]] and meeting [[Amsterdam criteria|Amsterdam I or II criteria]] or revised Bethesda guidelines is highly suggestive of [[hereditary nonpolyposis colorectal cancer]]. Some [[symptoms]] that are associated with [[colorectal cancer]] are change in [[bowel]] habits, [[hematochezia]], and [[rectal pain]]. | ||
==History== | ==History== |
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Editor-In-Chief: C. Michael Gibson, M.S., M.D. [1]Associate Editor(s)-in-Chief: Maria Fernanda Villarreal, M.D. [2]Ali Akram, M.B.B.S.[3]
Overview
The hallmark of hereditary nonpolyposis colorectal cancer is a first-degree relative with known MMR/EPCAM gene mutation. A positive family history of colorectal cancer and meeting Amsterdam I or II criteria or revised Bethesda guidelines is highly suggestive of hereditary nonpolyposis colorectal cancer. Some symptoms that are associated with colorectal cancer are change in bowel habits, hematochezia, and rectal pain.
History
- Obtaining the history is an important aspect of making a diagnosis of hereditary nonpolyposis colorectal cancer. It provides insight into natural evolution of the disease. Complete history will help determine the association with other conditions. Specific symptoms description such as duration, onset, and progression are important for making the diagnosis. Specific areas of focus when obtaining the history, are outlined below:[1]
- Positive history of hereditary nonpolyposis colorectal cancer in a first degree family member
- At least two successive generations affected by hereditary nonpolyposis colorectal cancer (histologially confirmed)
- History of colorectal carcinoma and/or endometrial carcinoma or transitional cell carcinoma of the ureter
Symptoms
- Hereditary nonpolyposis colorectal cancer often causes no symptoms until it has reached a relatively advanced stage.
- When symptoms do occur, they depend on the site of the lesion.
- Common symptoms, include:
- Change in bowel habits
- Change in frequency (constipation and/or diarrhea)
- Change in the quality of stools
- Change in consistency of stools
- Hematochezia or bleeding per rectum
- Mucus in stools
- Abdominal cramps or discomfort
- Melena (usually associated with upper gastrointestinal disease)
- Tenesmus (usually associated with rectal cancer)
- Diminished caliber of stools (usually associated with rectal cancer)
- Rectal pain (usually associated with rectal cancer)
- Nausea/vomiting
- Unexplained weight loss
- Unexplained loss of appetite
- Weakness
- Fatigue
- Dizziness
- Palpitations
- Metrorrhagia in premenopausal women
- Postmenopausal vaginal bleeding [2]
- Postcoital bleeding
References
- ↑ Vasen HF, Watson P, Mecklin JP, Lynch HT. New clinical criteria for hereditary nonpolyposis colorectal cancer (HNPCC, Lynch syndrome) proposed by the International Collaborative group on HNPCC. Gastroenterology. 1999;116(6):1453-6.
- ↑ Kong A, Johnson N, Kitchener HC, Lawrie TA (2012). "Adjuvant radiotherapy for stage I endometrial cancer". Cochrane Database Syst Rev. 4: CD003916. doi:10.1002/14651858.CD003916.pub4. PMC 4164955. PMID 22513918.