Adenomatous Polyposis Coli (APC)
Description
Adenomatous Polyposis Coli (APC) is a genetic disorder that causes the development of numerous polyps, small growths, in the colon. These polyps have the potential to develop into colorectal cancer if left untreated. This article delves into the complexities of APC, exploring its symptoms, causes, diagnosis, management, and strategies for thriving with the condition.
Genes Involved
Genes Involved:
- APC gene: The primary gene implicated in APC. Mutations in this gene disrupt normal cell growth and division, leading to polyp formation.
Recognizing the Signs and Symptoms
Recognizing the Signs and Symptoms:
- Frequent bowel movements: More than three bowel movements per day.
- Diarrhea or constipation: Alternating between diarrhea and constipation.
- Blood in the stool: Bright red blood or dark, tarry stools.
- Abdominal pain or cramping: Pain in the lower abdomen.
- Fatigue and weakness: Feeling tired and lacking energy.
- Weight loss: Unintentional loss of weight.
- Anemia: Low red blood cell count due to blood loss.
If you experience any of these symptoms, it‘s crucial to consult a doctor immediately.
Causes
Causes:
- Genetic mutation: The most common cause of APC is an inherited mutation in the APC gene. This mutation is passed down from a parent to their child.
- Spontaneous mutation: In rare cases, a mutation in the APC gene can occur spontaneously, meaning it‘s not inherited from a parent. This is called a de novo mutation.
Inheritance/recurrence risk
Inheritance or Recurrence Risk:
- Autosomal dominant inheritance: APC is an autosomal dominant disorder, meaning that if one parent carries the mutated gene, there is a 50% chance that their child will inherit the gene and develop APC.
- Recurrence risk: The risk of a parent with APC having another child with APC is 50%.
