Archive for the ‘Diseases’ Category


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Colon Cancer


Cancer of the colon and rectum is the third leading cause of cancer in men and the fourth leading cause in women and is more commonly seen in the western industrialized world.

Risk factors can include: age (50 years and older), family history of colon cancer, a high fat diet, smoking, and excessive alcohol intake. Most colon cancers begin from polyps in the colon which usually start out as benign, but after time can become malignant. Therefore, timely diagnosis and removal of the polyp can help to prevent the development of colon cancer, and thereby significantly decrease the mortality of this mostly preventative cancer.

A colonoscopy exam is the current best method for detecting colon polyps. During this same procedure, the doctor can easily remove the polyp. Colonoscopy is essentially painless, is an outpatient procedure, and is a small price to pay for the possible early detection of colon cancer.

The more common symptoms of colon cancer include rectal bleeding and/or blood in the stool, a change in bowel habits, a feeling that your bowel doesn’t empty completely, weakness or fatigue, and unexplained weight loss. Any of these symptoms should get you to see your doctor as soon as possible.

Your doctor will most likely do a rectal exam (don’t be shy, as this is very important), perform a rapid chemical test of a sample of your stool to check for blood, take a blood sample to check for anemia, and most likely schedule a colonoscopy exam.

Surgery is the most common treatment for colon cancer. Chemotherapy and radiation are also often used depending on the extent and location of the cancer.

The bottom line is that colon cancer, if diagnosed early enough, has a very favorable prognosis.  If found too late after it has metastasized (spread) to other organs, it has a much poorer survival rate.

Talk to your doctor about colon cancer screening with colonoscopy and check with your health insurer about what is covered. You should begin screening if you are 50 years old or older, or if you are younger and have a family history of colon cancer.

See your doctor if you have any of the above mentioned symptoms, and if you do, don’t settle for anything less than a colonoscopy exam. Denial or delay can be a matter of life or death.

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Anemia is a condition where blood lacks an adequate number of hemoglobin rich red blood cells, thus decreasing the amount of oxygen which is so vital to the proper functioning of our bodily tissues. Within each red blood cell is a protein called hemoglobin which is rich in iron and gives blood its red color. Hemoglobin is what enables red blood cells to carry oxygen from the lungs to all tissues of the body and carries carbon dioxide from the tissues back to the lungs.

Anemia is the most common of all blood conditions affecting some three and a half million Americans, especially women, children and the chronically ill. It most commonly causes weakness and fatigue.

There are several main causes of anemia, one of which is due to blood loss, which can be slow and happen over a long period of time. Common causes of this would include problems with the gastrointestinal tract, such as colon and stomach cancer, ulcer disease, gastritis (inflammation of the stomach), and hemorrhoids. Heavy menstruation is another common cause. Rapid blood loss from surgery or injury can also cause anemia and usually necessitates immediate blood transfusion as a life saving measure.

Decreased or faulty production of red blood cells can also contribute to anemia. Some of these common conditions include certain vitamin and iron deficiencies, bone marrow diseases (often associated with some cancers), and chronic kidney and thyroid disease.

Destruction of red blood cells faster than the body can produce them also causes anemia. Such conditions can also be due to chronic liver and kidney disease, as well as inherited diseases such as sickle cell anemia and a blood disorder called Thalassemia.

Some of the more common symptoms of anemia are: fatigue, weakness, pale skin, shortness of breath, and dizziness.

Often, the diagnosis of anemia is made on a routine blood test, where the patient had no obvious symptoms. This can occur because the anemia develops over a very long time allowing the body to compensate for the lack of oxygen to its tissues.

Once the diagnosis is made, further tests will be done to help determine the cause and best treatment for the anemia.

Anemia will be treated according to what has been determined to cause it. Iron supplements for iron deficiency anemia or folic acid and vitamin C supplements may be all that’s necessary to cure some types of anemia. In other cases, curing the underlying disease will help to improve the anemia.

Blood transfusion may be necessary for more severe forms of anemia to rapidly increase the number of functioning red blood cells and help to more quickly alleviate the symptoms of the disease.

See your doctor if you have any of the above mentioned symptoms and expect a complete workup and proper treatment plan.

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Rare Disease Day

Kudos to state Senator Bill Monning who has introduced a resolution to the state Senate recognizing the last day of February as Rare Disease Day in California, coinciding with a similar national observance. This action should help to inform the public about the challenges faced by those living with rare diseases.

There are approximately 7,000 rare diseases that have been identified, which in reality, involve a very limited number of people. A rare disease is defined as one that affects less than 200,000 (and usually considerably less) people in the United States and where treatments and cures are equally rare, mostly because of lack of interest and funding.

I thought I would describe a few interesting sounding rare diseases from A to Z, most of which even I myself have never heard of (much less able to spell):

  • Aarskog syndrome is an extremely rare genetic disorder marked by stunted growth that may not become obvious until the child is about three years of age, facial abnormalities, musculoskeletal and genital defects, and mild intellectual disability.
  • Blue rubber bleb nevus syndrome (BRBNS) is a rare blood vessel disorder that affects the skin and internal organs of the body.
  • Dysplasia epiphysealis hemimelica, is a rare skeletal developmental disorder of childhood.
  • Fibrodysplasia ossificans progressiva (FOP) is a very rare inherited connective tissue disorder characterized by the abnormal development of bone in areas of the body where bone is not normally present, such as the ligaments, tendons, and skeletal muscles.
  • Keratosis follicularis spinulosa decalvans (KFSD) is a rare, inherited, skin disorder that affects men predominately and is characterized by hardening of the skin in various parts of the body.
  • Olivopontocerebellar atrophy (OPCA) has historically been used to describe a group of disorders that affect the central nervous system and cause a progressive deterioration of nerve cells in certain parts of the brain.
  • Paroxysmal nonkinesigenic dyskinesia (PKND) This group of neurological conditions is generally characterized by involuntary muscle contractions that force the body into abnormal, sometimes painful, movements and positions.
  • Trismus-Pseudocamptodactyly syndrome is a very rare inherited disorder characterized by the inability to completely open the mouth causing difficulty with chewing and/or the presence of abnormally short fingers.
  • Zollinger-Ellison syndrome (ZES) is characterized by the development of a tumor that secretes excessive levels of a hormone that stimulates production of acid by the stomach which can cause stomach ulcers or cancer. By the way, Dr.Ellison, who discovered this syndrome, was the chief professor of surgery during my days attending medical school at The Medical College of Wisconsin.

These are but a few interesting sounding rare diseases from which a limited number of people are afflicted. But for those unfortunate ones who are, and because of being so rare, treatments or cures are not easy to come by. Again, thanks to Senator Monning whose resolution could create a better awareness of rare diseases and increase desperately needed research.

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