Although inflammatory disease of the vermiform appendix has been recognized as such for more than 100 years, its etiology remains a subject of controversy. The notion that appendicitis is familial, is not only important for understanding the etiology of the condition but might contribute to the diagnosis and thus provide an indication for early surgical intervention.
Appendectomy is the most commonly performed emergency surgical procedure. Acute appendicitis occurs 1/7 to 1/17 people, mostly adolescents and young adults and has a life-time risk of 7%.1 in the century since its recognition, no progress has been made in elucidating its etiology and pathogenesis. According to the leading theory, the initial event in the pathogenesis of acute appendicitis is obstruction of the lumen by factors like faecoliths, foreign bodies, intestinal parasites, tumours, or lymphoid follicular enlargement due to viral infections. However, obstructive elements have been identified in only 30%-40% of removed inflamed appendixes. Currently, the mortality rate is 0.25% if all ages are considered.
What causes appendicitis?
Appendicitis happens when the inside of the appendix is blocked by something that makes it swell up. If you have appendicitis, there is a serious risk your appendix may burst. This can happen as soon as 48 to 72 hours after you have symptoms. Because of this, appendicitis is a medical emergency. If you have symptoms, see a doctor right away. Appendicitis may be caused by various infections such as virus, bacteria, or parasites, in your digestive tract. Or it may happen when the tube that joins your large intestine and appendix is blocked or trapped by stool. Sometimes tumors can cause appendicitis.
Appendicitis, the condition where your appendix gets inflamed and filled with pus, is not genetic. It can be caused by food or stool getting trapped in the cavity the runs the length of your appendix or if you've had a gastrointestinal viral infection. What happens in either case is that bacteria gets into your appendix, invades it, and causes it to swell.
Appendicitis causes pain around your belly button that moves to your lower right side above your pelvic bone. It often hurts more if you cough, make sudden movements, or if the area is pressed. The pain usually gets gradually worse over a period of six to 12 hours, and it's possible that your appendix can rupture. This usually happens if a person waits too long, thinking their "tummy ache" will go away.
Who is at risk for appendicitis?
Appendicitis affects 1 in 1,000 people living in the U.S. Most cases of appendicitis happen to people between the ages of 10 and 30 years. Having a family history of appendicitis may raise your risk, especially if you are a man. For a child, having cystic fibrosis also seems to raise the risk of getting appendicitis.
Many authors studied the familial predisposition to appendicitis in childhood. Basta et al. demonstrated a familial aggregation and polygenic transmission pattern in a retrospective analysis of families of 80 patients with appendicitis when compared to families of matched controls. They found that the relative risk was 10.0 with the chance of appendicitis being 10 times greater in a child with at least one relative with reported appendectomy, compared with a child with no affected relatives. Basta et al. have further supported the hypothesis of familiality of acute appendicitis and a possible polygenic mode of inheritance by demonstrating the association between appendicitis and AB0 blood group, and a probable linkage with the HLA system.