Pernicious Anemia Case Study

Patient History

Maude is a 41-year-old female who has had regular physical exams, is a non-smoker, and has been in good health for most of her life. After the loss of her husband 4 years ago, Maude found herself in therapy for depression. She was comfortable since receiving her husband’s death benefit, but she had a motivationlessness (is that a word? it should be) that she’d never experienced before. She and her husband had planned so many things before he left and she felt she had to honor him by doing them: finally plant a Japanese Maple over in the shady part of the garden, go to the waterfalls surrounding Ithaca, make a trip to the Big Big NY City, Manhattan, and swim in the Atlantic Ocean. Of course she felt melancholy, but she was starting to think that her ennui was physical rather than emotional.

In recent years, she has been experiencing symptomsSubjective experiences reported by the patient (e.g., nausea, fatigue). of heartburn, nausea, and indigestion after eating certain foods. Although she experienced some relief after changing her diet to avoid those foods, the symptoms did not completely subside. Maude was eventually diagnosed with a form of chronic atrophic gastritis.  This is inflammation of the stomach lining. Maude was intrigued by this diagnosis and didn’t think that it was the ultimate culprit.

In the six months since that diagnosis, Maude has struggled to incorporate nutrient-dense foods into her diet and frequently fails to reach her daily caloric requirements due to her discomfort when eating.  Since a change in diet did not help, it is possible that this inflammation could be an auto-immune disease in which immunoglobulins(Ig) Antibodies: Proteins produced by the immune system to target specific antigens. are causing the inflammation. 

Signs and Symptoms

During Maude’s most recent visit to the doctor, she complained that she had become progressively more fatigued at the end of her workday.  Tasks relying on physical activity, such as laundry, would take an enormous amount of effort to complete, while simple tasks, like opening mail, would make her dizzy and short of breath. She told the doctor that she felt shortness of breath after the short physical activity tasks and also felt as if her “heart is pounding hard and fast.” 

She told her doctor that last month her menstruation was shorter than usual.  Although her gynecologist had said she could be in the beginning phases of menopauseThe natural cessation of menstruation and ovarian function., Maude noted that she was very pale in skinThe body’s largest organ, providing protection and regulation. tone in the days prior to her menstrual period.  This pallorAn unusual paleness of the skin due to reduced blood flow.An unusual paleness of the skin due to red marked the onset of frequent headaches and difficulty sleeping.

These were Maude’s signsObjective clinical findings observable by a provider (e.g., edema, fever). and symptoms upon returning to the doctor:

Respiratory Rate	15 breaths per minute
Heart Rate	102 bpm
Blood Pressure	140/95
Body temperature	98.5°F

The doctor ordered a CBC for Maude. These were the results.

As part of a routine CBC, information about platelets and leukocytes was included.

Measurement	Results	Reference Range
Platelets	250,000/µL	150,000–450,000/µL
Total WBC Count	7,500 cells/µL	4,000–11,000 cells/µL
Neutrophils	60%	40–70%
Lymphocytes	25%	20–40%
Monocytes	7%	2–8%
Eosinophils	0%	1-4%
Basophils	8%	0–1%

The technician at the hospital knew immediately that they were looking at someone with an anemiaA condition characterized by a deficiency of red blood cells or hemoglobin, leading to reduced oxyge. The technician was intrigued to see someone with a the CBC results Maude had. They were curious if Maude’s erythrocytes(RBCs): Red blood cells responsible for oxygen transport. were suffering from noticeable deformation that they could see through the microscope. As they often did, the technician made a blood smear of Maude’s blood and sure enough…burr cells. These are cells with a spiky appearance. As they inflate to a larger than normal size, their cell membranes get these characteristic spikes.

Diagnosis

At the end week of her appointment, the doctor called Maude. “I have good news and I have bad news,” they said. “Your test results tell me that you have anemia and you’ve had it for a while…at least since I saw you 6 months ago about your gastritis.” Maude was a little relieved that these things were connected. Hopefully, they could be treated together and she could get back to life. She said, joking, “Oh, good, I thought you were just going to tell me to drink more waterThe universal solvent essential for life.!”

“I’m uploading this pamphlet to your electronic chart. It’s a really good pamphlet that explains a condition called pernicious anemiaA type of anemia caused by a deficiency of intrinsic factor, leading to poor vitamin B12 absorption.. In short, you’ve got some B cell somewhere in your bone marrow just pumping out these auto-antibodies. These antibodies are affecting some of the cells in your stomach that make this thing called intrinsic factorA stomach-secreted protein necessary for vitamin B12 absorption. Without intrinsic factor, you can’t absorb the B12 you need for making red blood cells. Hence, anemia.”

Maude had a friend named Octavia who had been on B12 shots for fatigue, although her issue ended up being auto-antibodies killing her thyroid. Maude asked if she could just take a B12 vitamin instead of coming in for the shots. She lived in a rural area and had a 55 minute drive to the doctor’s office. The doctor explained that without the intrinsic factor, she’d never absorb the B12. The shots bypass her stomach.

Read this pamphlet written for the general public
by the Pernicious Anemia Society.

Outcomes

Maude received the shots every two weeks for 12 weeks at first. After the 3rd shot, she felt great. The natural blush came back to her cheeks, she wasn’t so tired she fell asleep all the time, and she finally had the energyThe capacity to do work or cause change. to do all those things her husband wanted them to do before he left.

Maude contacted her friend Octavia to talk about their auto-immune diseases. They were both interested in pursuing alternate therapies for their conditions, since so many immune-system-suppression drugs are now out there. Octavia showed Maude a website from the local teaching hospital associated with a university that had a huge listing of clinical trials that were going on. Maude was shocked to see that she was eligible for more than 1 of these clinical trials. She hadn’t realized she could contribute to the pursuit of medical science as a patient!