CASE STUDY

Patient A is a woman, 20 years of age, living in a small, rural town. In October, she suddenly begins experiencing fatigue, anxiety, and heart palpitations. She has recently given birth to her second child, a daughter. She contacts her physician, who believes the symptoms are related to the stress of having given birth in addition to caring for her toddler son. The physician recommends that Patient A rest and obtain some help caring for her two small children.

Patient A's symptoms worsen and then gradually resolve. Her family encourages her to take her physician's advice and try to reduce the stress in her life. Approximately two years after the initial symptoms, Patient A begins experiencing abdominal pain. Her rural family physician refers her to an internist in a large metropolitan city 50 miles from her home. The internist examines her and preliminarily determines that due to the patient's age and symptoms, her gallbladder is most likely causing the abdominal pain. The internist prescribes a low-fat diet and advises Patient A to adopt healthy lifestyle practices, including increased physical activity.

Five years after the symptoms initially began, Patient A becomes pregnant with her third child. During the sixth month of her pregnancy, the patient begins to experience problems. She has premature contractions, increased fatigue, headaches, and swelling in her legs. Her physician prescribes bed rest due to overexertion. During the last three months of pregnancy, Patient A remains on bed rest and the pregnancy is monitored with bi-weekly visits and ultrasounds. Her family plays a central role in helping her with housekeeping and childcare for her two children. However, she is forced to take a leave of absence from her job due to the premature labor. She delivers a healthy baby girl in September.

Shortly after the birth of her third child, Patient A begins experiencing new and puzzling symptoms. Her ankles and knees begin to swell, and the edema is noted bilaterally. She also starts to complain of joint pain in her ankles, knees, elbows, wrists, and fingers. Patient A has difficulty climbing a flight of steps or dancing. Rest and over-the-counter pain medication relieve her symptoms, but it is difficult for her to find time for much rest due to the responsibilities of caring for a family and working full-time. Her family is very concerned about her health and wonders why the physician is not able to find a cause for her problems.

The winter brings a new intolerance to low temperatures. While Patient A has never liked cold weather, suddenly she is having a problem with her hands and feet becoming painful and discolored when she is exposed to cold. Her extremities became painful, stiff, and altered in color when exposed to cold temperatures. Patient A finally returns to her rural family physician in March. He is perplexed; he is not sure what was causing the young woman's problems. The physician decides to send Patient A to see a rheumatologist in the same metropolitan area as the internist.

The rheumatologist examines the patient and runs several blood tests. Patient A's ANA test is positive at 1:640. Her lupus erythematosus test or LE cell prep is negative (normal: negative test with no LE cells noted.) The rheumatoid arthritis factor is negative (normal: negative with <60 U/mL), and her sedimentation rate is 62 mm/hour (normal: up to 20 mm/hour for women).

The rheumatologist tells Patient A that he cannot be sure of her condition, but that he is considering the possibility that it could be lupus. He emphatically tells her, however, that it is not a positive diagnosis, and he certainly does not want to label her with such a devastating disease unless he is certain. He prescribes an anti-inflammatory medication, naproxen, and tells her to return home and rest. Patient A is frustrated—no one has been able to find an answer to why she feels so sick. She tries to talk to her family and friends, but they do not seem to understand what she is going through. Even the physicians do not seem to hear what she is telling them.

While medication reduces the pain and swelling in her joints, Patient A continues to experience fatigue, abdominal pain, and intolerance to cold weather. She is frustrated and feels as if no one is listening to her complaints. Her spouse, family, and friends do not understand why she feels so bad when she looks as if there is nothing really wrong with her. To Patient A, it seems as if she will never feel healthy again.

In the summer of the following year, Patient A experiences a strange red, raised rash with itching after having been out in the sun. She has always enjoyed the outdoors, and while she has been sunburned in the past, she has never had a rash. In addition, she begins to develop small, raised sores on her legs and arms. The joint pain, swelling, and fatigue continue.

Convinced that there must be something wrong with her, Patient A begins researching information on rheumatologic conditions. Based on her symptoms and the lab test results performed in the past, she begins to suspect that she has lupus. She begins to inquire around the town in which she lives to determine if anyone knows of a good rheumatologist that they like and trust. She finally locates a rheumatologist and makes an appointment as soon as possible.

At the first visit to the new rheumatologist's office, the physician elicits the patient's long medical history and description of her numerous symptoms. He examines her and obtains lab work, including a CBC, ANA, anti-DNA antibody test, and complement series, as well as a skin biopsy of the lesions on her legs. The skin biopsy results indicate small vessel vasculitis. The following lab results are recorded:

After completing all of the tests, the rheumatologist sits with the patient and her spouse and tells them that although the tests are pending, he is certain that she has systemic lupus erythematosus. She meets the entry criterion of an ANA titer >1:80 of the EULAR/ACR criteria for diagnosis and has the following additive criteria: butterfly rash/facial erythema (acute cutaneous lupus, 6 points), nonerosive arthritis (joint involvement, 6 points), hematologic or blood disorder (autoimmune hemolytic anemia, 4 points), immunologic disorder (abnormal anti-DNA antibody test, 6 points), for a total of 22 points. Patient A has a positive diagnosis with the entry criterion of ANA titer being met, at least one of the clinical domains being met, and a score of greater than 10 points [28].

The physician describes the disease in great detail to Patient A and her husband and answers all of their questions. The physician believes that the patient has had lupus for more than seven years, beginning with her initial symptoms. A one-month course of prednisone with tapered doses is prescribed. Nabumetone, an anti-inflammatory, is added to the regimen prior to the prednisone being weaned off. He reassures Patient A as she leaves his office that he will be available for her and will help her manage the disease.

As Patient A leaves the rheumatologist's office, her feelings are mixed. She is thankful to finally know she is not crazy and to have a diagnosis. She is also angry and bitter that it took seven years and four physicians to finally find a cause for her symptoms. She is relieved that she can finally tell her family and friends why she has felt so sick. She is also very afraid because she is not certain what her future will hold now that she has been diagnosed with the chronic disease lupus.

This case study provides one example of the physical and psychological experiences associated with lupus. The struggles Patient A experiences in an attempt to diagnose her chronic illness are documented, as well as the vagueness of her symptoms. This woman's experience provides a brief glimpse into the challenges of obtaining a diagnosis and of living with lupus.