Eight years of unexplained headaches (why did the diagnosis take so long?)

Clinical Laboratory Science, Fall 2001 by Gade, Wayne

The patient had chronic incapacitating headaches for a period of eight years. Neurologic tests ruling out organic causes such as tumors and analysis of diet, allergies, stress levels, and chronic infections left the patient and physicians without an explanation. The headaches did not fit the patterns of common or classic migraines. The patient's energy level had significantly decreased during this same time period, and she had frequently become short of breath. Diagnosis of underlying pathology occurred when efforts were focused on explaining respiratory conditions. The patient had an oxygen saturation of 77% and a pulse of 98, following a brief walk around the building. Further testing by a pulmonary specialist confirmed diagnosis of emphysema secondary to a deficiency of Alpha-I Antitrypsin (AAT).

Background materials supporting this case history include: a model for AAT function, genetics of AAT deficiency, pathophysiology of both liver and pulmonary diseases, and a summary of treatment options and prognosis for AAT deficient patients.

ABBREVIATIONS: AAT = Alpha-1 Antitrypsin.

INDEX TERMS: headaches.

Clin Lab Sci 2001;14(4):228

Karen was a slender (5'5", 104 lb), 51-year-old woman with an eight-year history of unexplained headaches and diminished energy level. Several times during the eight years, she had asked doctors for a medical explanation for the chronic headaches, but no diagnosis was offered. The headaches appeared to be unrelated to congestion, diet, level of activity, stress, tension, or allergies. Karen smoked approximately 1/2 pack of cigarettes per day and noticed a slight decrease in headache intensity following a cigarette. She had borderline high blood pressure, with typical BP readings of 125/85 and pulse over 90 beats per minute (bpm). Common organic causes of her headaches had been ruled out by x-rays, MRI, and spinal tap.

Migraine headaches had also been ruled out as the symptoms did not fit the typical migraine pattern of unilateral, pulsatile headaches of 4- to 72-hour duration.' She also experienced neither photophobia nor phonophobia during her headaches and had never experienced the 'aura, which distinguishes the classic migraine (with aura) pattern from the common migraine pattern (without aura). The aura experienced by classic migraine sufferers is described as episodes of well-defined, transient focal neurologic dysfunction that typically precede the migraine itself',' Visual symptoms include seeing.patterns such as spots, lines, and stripes.

All chemistry results were normal when basic metabolic, lipid, and liver profiles were performed during this eight-year period between the ages of 43 to 51. Abnormal CBC results from an annual checkup at age 46 had indicated that she suffered from a mild anemia (Table 1). Follow-up testing confirmed that the microcytic-hypochromic anemia was secondary to iron deficiency. The anemia was resolved by iron supplementation and was permanently resolved following menopause.

Karen's headaches were constant, and for several years, they were incapacitating. They began early in the morning and continued throughout the day, regardless of medications, relaxation, and lowered stress. She was unable to work during a two-year period.

Other symptoms noted during the medical evaluations were that Karen experienced shortness of breath upon light-to-moderate exertion. However, her residence above 7,000 ft. in the mountains of Colorado and moderate smoking offered easy explanations for her shortness of breath. During her mid-forties, Karen noticed a general decrease in her energy level that initially seemed to coincide with her anemia. Upon resolution of the iron deficiency and return to a normal hemoglobin (Hgb) and hematocrit (Hct), it became apparent that she had not regained her previous high energy level. Concern about her overall conditioning led Karen to join an aerobics class; however, the instructor asked her to see a doctor when her pulse raced to 170 bpm shortly after the beginning of the class.

Diagnosis of the underlying condition started when her 02 saturation was determined using a pulse oximeter following a walk around the building. This non-invasive device uses a combination red and infra-red light passed through a patient's finger to determine a ratio of oxygenated and deoxygenated hemoglobin. Her 02 saturation was only 77% (reference range, 95-100%), and her pulse was 98 bpm.3 Following up this lead, an arterial blood gas (ABG), chest x-- ray, erythrocyte sedimentation rate (ESR), c-reactive protein (CRP), and sputum cultures were ordered. When she was started on 2 L/min of oxygen, the headache began disappearing.

ABG results confirmed that her pulmonary function was decreased (Table 2). Chest x-ray showed hyperopaque areas, with thickened cavity walls and flattened diaphragm. These observations were consistent with changes resulting from developing emphysema. There was no evidence of infiltration or foci. The sputum cultures were negative, and both CRP and ESR data argued against an infection.