March 14, 2011

Just blame it on your genes

BY Dr. Keith J. Kaplan

I am becoming increasingly suspicious of articles and media reports that claim something to the effect that ""X" is no longer most common cause of "Y"; Genetic cause found for disease".

Such as the case with this story below at bottom of this post.

In medical school you are taught few absolutes.  There are always "exception to the rule", common diseases may have rare presentations, rare diseases may have common presentations, for that disease but common to a host of other diseases, possibly making recollection and detection of the rare disease harder, because you are also taught that common diseases present commonly, that's why they are called common. 

I do however recall a few absolutes, including that prostitutes get cervical cancer, nuns get endometrial cancer, smoking causes lung cancer and pancreatitis is caused by gallstones and alchohol.  Of course, not all smokers get lung cancer and some cases of lung cancer occur in non-smokers and not all nuns get endometrial cancer (thought to be due to high levels of unopposed estrogen levels due to lack of pregnancy-induced elevated progesterone levels that intermittently oppose the estrogen).

Anyways, you get the idea.  Most medical students are taught a mnemonic for the causes of acute pancreatitis, like the one below (courtesy of Wikipedia).  "I get smashed" is a family-friendly compared to the mnemonic for the bones of the wrist. 

So, now why, for this first time since Hippocrates to Virchow to Will and Charlie Mayo to Dr. Gregory House is alcohol not one of the most common reasons for pancreatitis?  Did our genes change to the point they cause disease we use to credit to other causes?  Have the genes that cause alcoholism mutated to the point they no longer cause alcoholism and therefore potentially some cases of pancreatitis?  Wait, isn't it genes that cause us to drink in the first place? 

Certainly there are certain genotypes and phenotypes that predispose individuals to the development of gallstones which could leave home and travel down the bile duct and get lodged and cause the pancreas to digest itself.  If we are talking specifically about chronic pancreatitis, can eliminate gallstones since gallbladder surgery is one of the most common surgeries performed and without gallstones hard to get recurrent acute or chronic pancreatitis. 

Obviously autoimmune diseases have a genetic basis and thus one could attribute genetic causes to their primary disease and its complications.  Other metabolic conditions like those listed below including high lipids and triglycerides also have a genetic basis. 

Harder to come up with scorpion bites as having a genetic cause unless you are pre-programmed at birth and destined to get a PhD in scorpion biology and it presents an occupational hazard or you live in an area indigenous to such creatures without fear of being stung. 

The truth of the matter is that a number of diseases are caused by human actions, inactions or behaviors that results in modifications of cells and tissues beyond normal and cause pain and suffering.

On the other hand, genetic factors on some level probably do control those actions, inactions or behaviors that prevent or cause disease, so I guess you can attribute every disease to bad genes.

That means I do not need to remember any more mneumonics when all the causes are actually one big single cause.  Think I will have a drink. 

A common mnemonic for the causes of pancreatitis spells "I get smashed", an allusion to heavy drinking (one of the many causes):

This mnemonic is also roughly arranged according to the frequency of its causes. Thus: Gallstone pancreatitis is more common than pancreatitis caused by alcohol, trauma, or steroids.

Alcohol May No Longer Be Primary Cause Of Chronic Pancreatitis
Reuters (3/10, Grens) reports that genetic factors may be replacing alcohol as the major cause of chronic pancreatitis, according to a study in the journal Clinical Gastroenterology and Hepatology. Researchers analyzed the medical records of patients who were treated for chronic inflammation of the pancreas at 20 medical centers. They determined that approximately three out of every 10 cases of pancreatitis were due to genetic diseases, immune system disorders, or other factors, such as physical damage. In another three out of 10 cases, the study team could not determine the cause for chronic pancreatitis, but they noted that patients in the group had higher than average smoking rates.

OR

Comments (1)

platinum partners

gold partners

Silver Partners

Media Partners