CNN/Health.com this week identified 15 conditions that are notoriously difficult to diagnose and ways health care workers can minimize overlooking them.
"A lot of symptoms are nonspecific and variable, depending on the person," says David Fleming, president of the American College of Physicians.
One in 20 adults are misdiagnosed during outpatient visits and about half of those errors lead to worse patient outcomes, according to a study in April's BMJ Quality and Safety.
Menstrual and gastrointestinal problems are especially difficult to identify, Fleming points out. He notes that the following conditions are especially hard to diagnose:
- Irritable bowel syndrome (IBS). There is no test for IBS, but a diagnosis requires that a patient exhibit symptoms three days per month for three successive months.
- Celiac disease. Not all who suffer celiac disease exhibit digestive problems when they eat wheat, but patients typically demonstrate symptoms such as itchy skin, joint pain, acid reflux, and headaches. A blood test confirms the diagnosis.
RelatedThe ailments that go undiagnosed
- Fibromyalgia. The condition is diagnosed after physicians have ruled out every other cause of patients' widespread musculoskeletal pain and chronic fatigue.
- Rheumatoid arthritis (RA). The early stages of RA mimic other conditions with achy joints. Blood tests can identify inflammation in the body, but must be combined with patient medical history and a physical exam to pinpoint the condition.
- Multiple sclerosis. Early symptoms differ case-by-case, though they frequently involve various severities of weakness, tingling, or numbness of limbs. A spinal tap or an MRI confirms the diagnosis.
- Lyme disease. When the signature bulls-eye rash does not form, the fatigue, headache, and joint pain can be mistaken for other conditions. After a few weeks, blood tests can detect the disease, but treatment is most effective when given immediately.
- Lupus. Patients who lack the tell-tale butterfly-shaped rash on their cheeks are especially difficult to diagnose because the disease can present in multiple ways, affecting joints, kidneys, skin, lungs or other parts of the body. Blood and urine tests and complete physicals inform a diagnosis.
- Polycystic ovary syndrome. The condition affects women of reproductive age who have elevated levels of male androgen hormones, or infrequent or prolonged periods. They may have abnormal facial and body hair, though this symptom is less common in women of certain ethnicities such as Asian or Northern European. Additional possible symptoms include irregular periods, difficulty getting pregnant, enlarged ovaries with cysts, and weight gain.
- Appendicitis. Patients with backward-facing appendixes present symptoms in unusual locations. A ruptured appendix may relieve the pain, causing the patient to feel better until an infection forms.
- Endometriosis. This disorder is often misdiagnosed as common menstrual discomfort, but severe pelvic pain, heavy bleeding, and cramping intensifies over time. A pelvic exam may detect endometrial tissue or cysts, but other times an ultrasound or laparoscopy is necessary.
- Migraines. Less severe migraines cause subtle dizziness, lightheadedness or vague discomfort and are confused for similar conditions. Neurologists are able to narrow down the cause.
- Hypothyroidism. The condition is often mistaken for natural, age-related problems because the subtle early stages include fatigue, dry skin, muscle aches, forgetfulness, and weight gain. It is especially common in women over 60.
- Type 2 diabetes. This condition often goes undiagnosed in adults who do not regularly visit their physician until severe symptoms such as limb numbness and blurred vision present. Watch for early signs such as excessive thirst or hunger, fatigue, sudden weight loss, and frequent urination.
- Inflammatory bowel disease. This is diagnosed by ruling out every else first. The severe abdominal pain and diarrhea frequently is pinned on a patient's gallbladder or an infection.
- Cluster headaches. These affect fewer than one million Americans and are often misdiagnosed as allergy and sinus headaches because they tend to occur when seasons change (MacMillan, Health.com/CNN, 8/26.)