The Story #9: Hypochondria v. Multi-symptom Disease

Taken at face value, the involvement of multiple organs in disease seems incongruous or irrelevant. However, from reading such medically orthodox sources as The Merck Manual of Medical Information, I found, for instance, that when Crohn’s disease causes a flare up of gastrointestinal symptoms, the patient may experience inflammation of the joints (arthritis), inflammation of the whites of the eyes (episcleritis), mouth sores (aphthous stomatitis) and inflamed skin nodules on the arms and legs (erythema nodosum). And when Crohn’s disease is not causing a flare up of gastrointestinal symptoms, the patient still may experience inflammation of the spine (ankylosing spondylitis), inflammation of the pelvic joints (sacroiliitis), inflammation inside the eye (uveitis) and inflammation of the bile ducts (primary sclerosing cholangitis).

In other words, a doctor may suspect Crohn’s disease in a person with seemingly disassociated complaints of abdominal pain, achy joints, inflamed eyes and skin. No lab test specifically identifies Crohn’s but blood tests may show anemia and indications of inflammation. Various sources including Merck’s Manual claim Crohn’s disease can almost always be detected on x-ray once barium is swallowed. Left untreated, some people die of cancer of the digestive tract, which may develop in long-standing Crohn’s.

Given this, I was surprised at how many of the doctors I saw tuned out by the time I got to the third symptom. A friend of mine told me that if you mention more than two symptoms to doctors, they label you as a hypochondriac and don’t take you seriously. Most of the doctors I saw wanted to explore one symptom at a time as if there was a one on one causal relationship between one symptom and one illness, such as my head hurts hence I must have a headache. At least that’s how they made it seem to me. I’d like to believe doctors are more sophisticated than that. Perhaps my perception is a reaction to my frustration at their reluctance to attempt to tie all the pieces together and come up with a diagnosis. My own efforts at diagnosis by scouring all things medical proved to me how difficult a task diagnosis actually is. For one thing, there are many seemingly similar conditions that can impact correct diagnosis. It seems that many diseases share the same symptoms. Take arthritis, for example.

Ankylosing spondylitis (AS) and rheumatoid arthritis (RA) are both destructive, inflammatory diseases. Unlike AS, RA is an autoimmune disorder in which the immune system improperly attacks the soft tissue that lines the joints and the connective tissue in various other parts of the body including blood vessels and the lungs. The enzyme-producing inflammation digests adjacent tissue which produces scar tissue and causes bones to fuse together. Those with RA commonly experience a crinkling cellophane sensation in the affected tissue.

The onset of RA is associated with stress, poor nutrition and bacterial infection. Organisms involved in arthritis caused by bacterial, fungal or viral infection of the joints are typically Streptococci, Staphylococci, Gonococci, Hemophilus or tuberculi bacilli and fungi such as Candida albicans, which travel through the bloodstream to the joint from infection elsewhere in the body. Systemic symptoms of infection are varied and often include fatigue, low-grade fever, morning stiffness, body aches, chills, tender, painful swelling of two or more joints commonly in the fingers, ankles, feet, hips and shoulders. All symptoms I have.

I’d been seeing chiropractors for years for arthritis but in the last couple of years, their adjustments no longer relieved painful symptoms. I started looking for another reason for my symptoms keeping in mind that conditions are not necessarily mutually exclusive. I found pseudogout. Pseudogout is a disorder caused by calcium pyrophosphate crystal deposits in the cartilage and joints. Some confuse pseudogout’s symptoms of painful joint inflammation with RA. Pseudogout occurs in those with abnormally high calcium levels caused by some other illness. Those with malabsorption as well as parathyroid abnormalities excrete calcium phosphate and oxalate crystals into the urine. Pseudogout is characterized by these crystals and low uric acid blood levels.

None of the doctors I saw was able to tell me the significance of consistently testing low for serum uric acid. When I’d mention that low serum uric acid could be indicative of Fanconi’s syndrome or Wilson’s disease, they told me those were rare diseases that I needed to discuss with some other specialist. Fanconi’s syndrome is a kidney malfunction that leads to excessive and frequent urination, excessive thirst and results in an electrolyte imbalance.

Normally when the kidneys cleanse the blood, it reabsorbs and returns to the bloodstream the electrolytes and nutrients it needs to keep water, salt and acidity in balance. In Fanconi’s syndrome, this reabsorption is defective and leads to dehydration and constipation. Dehydration precipitates the formation of kidney stones from substances that do not dissolve completely (ie: calcium oxalate, uric acid). Crystals slowly build up into kidney stones. Fanconi’s can be caused by environmental assaults, including exposure to heavy metals, or by a variety of genetic defects, including those in Wilson’s disease.

Wilson’s disease is a genetic disorder in which copper accumulates in tissues, then manifests as neuropsychiatric symptoms and liver disease. Liver disease may present as tiredness, increased bleeding tendency or confusion (due to hepatic encephalopathy) and portal hypertension. In portal hypertension, the pressure on the portal vein is markedly increased, leads to esophageal varices (blood vessels in the esophagus) that may bleed in a life-threatening fashion, splenomegaly (enlargement of the spleen) and ascites (accumulation of fluid in the abdominal cavity). Some patients are diagnosed once hemolytic anemia (anemia due to the destruction of red blood cells) leads to deranged liver protein metabolism and the accumulation of waste products such as ammonia in the bloodstream.

About half of those with Wilson’s disease are said to have neuropsychiatric problems. Initially, patients exhibit mild cognitive deterioration and clumsiness as well as changes in behavior. Specific neurological symptoms follow, often in the form of parkinsonism (increased rigidity and slowing of routine movements). Psychiatric problems due to Wilson’s disease may include behavioral changes, depression, anxiety and psychosis. Medical conditions linked with Wilson’s disease include:

• renal tubular acidosis, a disorder of bicarbonate handling by the proximal tubules which leads to nephrocalcinosis (calcium accumulation in the kidneys), weakening of bone (due to calcium and phosphate loss) and occasionally aminoaciduria (loss of amino acids needed for protein synthesis).
• cardiomyopathy (weakness of the heart muscle) which leads to fluid accumulation due to decreased pump function and cardiac arrhythmias (episodes of irregular and/or abnormally fast or slow heart beat).
• hypoparathyroidism (failure of the parathyroid glands, leading to low calcium levels), infertility and habitual abortion.

According to Mosby’s Diagnostic and Laboratory Test Reference guide, low serum uric acid may also indicate lead poisoning or be caused by such drugs as estrogen, guaifenesin and corticosteroids among others.

Diagnostic clues recap:

• Candida albicans/candidiasis
• Actinomycotic granules
• Flora imbalance, intestinal bacterial overgrowth
• Hypoxemia (lack of oxygen) affecting brain/central nervous system
• Arterial plaque buildup, cardiovascular disease
• Pernicious and hemolytic anemia (B12 and RBC deficiency)
• Possible pituitary malfunction (regulates kidney function)
• Dehydration and inflammation (Fanconi’s syndrome)
• Calcium buildup in soft tissues and kidneys
• Hypothyroidism (regulates calcium levels)
• Skin eruptions
• HHV-6 and EBV
• Colon cancer marker present
• Autoimmune disease
• No allergies, minimal food sensitivity
• Spirochete (Lyme, Babesia, other)
• Hormonal imbalance
• Wilson’s disease
• Arthritis, pseudogout

~ by doctorblue on November 12, 2008.