Difficult Diagnoses

Spring 2011 CSANews Issue 78  |  Posted date : May 06, 2011.Back to list

While nearing the end of my medical education, I recall my sister phoning me one night telling me the story of her infant son who was having a problem with recurrent vomiting following feeding. She had twice taken him to the doctor and had been given some general advice and reassurance. The following morning, the baby was worse and she was especially concerned that the vomit virtually shot from his mouth. She went to her "Baby and Child Care" book by Dr. Benjamin Spock and, after reading about such "projectile vomiting" in a newborn, strongly suspected "pyloric stenosis." At the Hospital for Sick Children, her suspicion was confirmed with a simple X-ray and two hours later - after emergency surgery to release the anatomical obstruction at the bottom of the stomach that causes such symptoms - the baby was cured.

Throughout my medical career, I was often presented with opinions from my patients about the cause of, or the treatment for, their particular symptoms. Some doctors are often quietly offended by patient intervention in this manner but sometimes, such as in my sister's case, there is benefit to the patient (and the physician) when a new perspective is addressed. In past years, such information was offered from books and magazine articles such as Reader's Digest but now, patients turn to the Internet to research their symptoms. Is such input helpful? I submit that it is. While there may be a "waste of time" perceived by some physicians, in many cases, the patient's concern may just trigger a new approach to a case that is difficult to diagnose.

Patients are far better educated with regard to medical conditions than they were in the past. From improved health education in the schools, an abundance of health-related articles in newspapers and magazines, numerous medically related television shows and the Internet, patients now enter the doctor's office with a much better idea of what may be afflicting them. Many conditions are easily diagnosed because of the symptoms, examination results or simple test or X-ray but, in many conditions, the exact cause may be much more difficult to determine. For a number of medical conditions, the diagnosis may be delayed or even missed – with unfortunate consequences. In such cases, patients themselves may be very helpful in contributing to the early suspicion, appropriate investigation, diagnosis and treatment of their condition.

For a patient who reports increasing thirst and urination, a simple urine or blood test will confirm the presence of diabetes. Chest pain on exertion along with an abnormal electrocardiogram or stress test confirms a diagnosis of coronary artery disease. A changing skin "sore" followed by a biopsy can confirm a suspicion of skin cancer and early removal is the cure. A sudden attack of severe right upper-abdominal pain results in an ultrasound and/or X-ray to confirm the presence of gallbladder disease. The list of easy diagnoses is extensive. Many diseases have a specific test which can confirm or rule out their presence, but many do not. In addition, the physician may not even consider a certain disease when assessing the symptoms and examination findings, and appropriate investigations may then not be arranged. Then there are the cases in which there are much more vague signs or symptoms that may elude the astute clinician, even with the available diagnostic tests and imaging. 

Patients, being aware of the conditions that may be the result of their symptoms, are sometimes at a distinct advantage in obtaining earlier diagnosis and treatment, sometimes prolonging or sparing their life. The following are a few examples of these difficult diagnoses.

Case 1:

George is 72 years old, has enjoyed fairly good health over the past years and is on one medication for his high blood pressure. He gets an annual medical exam and has always had normal blood tests for his prostate (PSA). On a routine visit for his blood pressure, he mentions to his physician that he is required to get up several times during the night to urinate, and goes more frequently during the day. In addition, his stream is not as strong. Knowing that the patient has had a "normal feeling" prostate and a normal PSA on his last examination, the doctor reassures George that benign prostatic hypertrophy (BPH), a common benign enlargement of the prostate gland, is the cause and prescribes a medication to ease the symptoms. He is given his next routine appointment in three months.

But George does not get the anticipated relief with the medication, and turns to the Internet. He finds that prostate cancer has very similar symptoms and that, because he is overweight and his father had prostate cancer, he is at increased risk for the disease. He suspects that prostate cancer - not BPH - may be the cause of his symptoms. He returns to his doctor in just two weeks, has another PSA test (which is now elevated), is referred to a urologist, has a biopsy confirming prostate cancer and is presented with treatment options. As with most types of cancer, it is well-documented that the earlier the diagnosis and treatment, the better chance of survival.

Case 2:

Mary is a 68-year-old retired teacher whose only medical problems are recurrent mild headaches and an under-active thyroid gland, for which she has taken the same medication for years. She presents to her family doctor with four weeks of vague abdominal pain, a symptom of feeling full all the time and some fatigue. The physical examination is negative and she is reassured that there does not appear to be anything serious. After several weeks of further such symptoms, she returns to the doctor. In addition to another negative examination (abdominal palpation, but not an internal pelvic examination), a number of blood tests are ordered to further try and determine if anything is abnormal. 

A few days later, she is told over the telephone that all the tests were normal. With this information, Mary is somewhat reassured.  However, she soon begins to realize that her abdomen seems larger than it used to be. After surfing the web on her computer, she lands on the website www.ovariancanada.org and learns that ovarian cancer commonly starts with vague abdominal symptoms, that there is no specific test to diagnose the condition and that it is often missed in the initial stages. She reads that common initial symptoms include:
  • Swelling or bloating of the abdomen
  • Pelvic discomfort or heaviness
  • Back or abdominal pain
  • Fatigue
  • Gas, nausea, indigestion
  • Change in bowel habits
  • Emptying your bladder frequently
  • Menstrual irregularities
  • Weight loss or weight gain
She returns to her doctor and is referred to a gynecologist, at which time further examination and imaging confirms the diagnosis of ovarian cancer. Following her surgery and chemotherapy (and because of her early diagnosis), Mary is likely to survive this aggressive cancer.

Case 3:

Dave, 76, enjoys reasonable health; he had a mild heart attack six years ago and still has difficulty controlling his weight. He stopped smoking at the time of his heart attack. Just as he was looking forward to his winter vacation in the south, he began to experience some significant lower-back pain. He had not strained himself and had not had any recent problems with back pain. At his doctor's office, his back was examined - a diagnosis of muscle strain was made and medication prescribed. Over the next few days, the pain increased and now he was experiencing abdominal pain as well. His visiting grandson surfed the web and found that a smoker with a history of heart disease and sudden unexplained back and/or abdominal pain may be suffering from a rupturing aneurysm, a dilatation and leakage from the abdominal aortic artery (abdominal aortic aneurysm). In spite of this 9:00 p.m. revelation, a 911 call was made and, within one hour, Dave was on the operating table having his aorta repaired following the ultrasound and CT scan confirmation.

These three cases are examples of the benefits of knowledge on the part of patients and their family members regarding medical conditions in which early diagnosis may have a significant effect on receiving appropriate and successful treatment. With our excellent medical services in Canada provided by highly trained physicians and other health-care professionals, most diagnoses and necessary treatments occur within a timely period. However, patients should not be discouraged from doing their own research not only on signs and symptoms, but also on the various options for effective treatment of their conditions. 

Although we are not all Internet-savvy, most of us can get help from our neighbours, children and especially our grandchildren. Be sure that the information you retrieve comes from reputable medical organizations. In addition to learning more about our conditions, we have easy access on the Internet to common side-effects from any prescription drugs we may be taking. 

Physicians and clinics are increasingly providing patients with literature which fully explains their conditions and the medically recognized ways to manage them appropriately. Now, more and more of us are discovering the wonders of the Internet and other media in educating us about the nature of our conditions, the proper ways to prevent and treat them, and sometimes to assist doctors in difficult diagnoses.