History of Present Illness
The case study is that of a 58-year-old African-American woman who presents with complaints of worsening shortness of breath and palpitations for about 1 week. She has accompanying dizziness, tiredness, weakness as well as profound dyspnea with little or no exertion.
Based on the history given, the patient’s probable diagnosis is severe iron deficiency anemia (IDA). I leaned towards this diagnosis because IDA is one of the foremost causes for anemia (An et al., 2021; Chopra & Anker, 2020), and no information was given as a clue to an alternative cause in the case history presentation. Iron deficiency anemia is a major cause of severe anemia in adults, rather than malignancy, and anemia of chronic disease (Chopra & Anker, 2020).
The etiology of various types of severe anemia and their clinical manifestations may be similar and could be a challenge to diagnose, hence the relevance of specific diagnostic test for accurate differentiation (Pagana et al., 2022). Given the patient’s presentations, some of the differential diagnosis include; gastrointestinal malignancies, anemia of chronic disease, autoimmune disease, macrocytic anemia with B12 /folate deficiency and transfusion-dependent thalassemia (An et al., 2021; Chopra & Anker, 2020; Piriyakhuntorn et al., 2018). The complexity lies in the ability to accurately differentiate the diagnosis through identification of the type of anemia and ruling out other disease etiology (Turner et al., 2022).
Comprehensive History and examination
Effective and timely treatment of anemia requires correctly diagnosing the specific cause (An et al., 2021). It is advisable to obtain a detailed history from the patient with iron deficiency anemia, as it may provide some important information to the cause (Snook et al., 2021). For this patient, who is presenting with weakness, dizziness, dyspneic shortness of breath and palpitations, it might be essential to further evaluate her for heart failure, a common comorbidity in patients with severe anemia (Chopra & Anker, 2020).
Complete blood count.
One of the diagnostic evaluation goals is to identify the type of anemia using one of the simplest blood tests, the complete blood count (CBC) (An et al., 2021; Turner et al., 2022), which measures different levels in the parts of the blood; red blood cells, hemoglobin, hematocrit and mean corpuscular volume (Chopra & Anker, 2020).
Red blood cell indices
This includes checking for the mean corpuscular volume, mean corpuscular hemoglobin, mean corpuscular hemoglobin concentration and the red blood cell distribution width (Pagana et al., 2022). The use of red cell distribution width values (RDW), one of the red blood cell indices in the CBC enables determining the difference between iron deficiency anemia and non-transfusion dependent thalassemia in patients with moderate to severe microcytic anemia. (Piriyakhuntorn et al., 2018).
Peripheral blood smear
When diagnosing anemia, it is beneficial to classify the anemia according to the RBC indices denoting the cell size and hemoglobin content, as well as the shape and color screened in the peripheral blood smear (Pagana et al., 2022).
The British Society of Gastroenterology (BSG) guidelines recommend that in post-menopausal women such as our case, endoscopy and colonoscopy should generally be the first line GI investigation of choice to rule out any bleeding ulcers or malignancy (Snook et al., 2021). Other investigations include esophagogastroduodenoscopy to determine tumors in the colon, as well as imaging studies may be obtained if cancer is suspected (Turner et al., 2022). A wireless capsule endoscopy may be utilized to assess the small bowel in cases of recurrent or resistant iron deficiency anemia (Snook et al., 2021).
Bone marrow tests
Bone marrow tests (aspiration or biopsy) are done as a diagnostic modality for evaluating anemias. It assesses the health of the bone marrow, ascertaining if it is making normal amount of blood cells (Pagana et al., 2022).
Screening for Celiac disease
Celiac disease is found in about 3%-5% of cases of iron deficiency anemia, and thus urine microscopy and routine serology screenings should be completed to rule out the disease (Snook et al., 2021).
Fecal immunochemical testing
This test is used to screen for trace quantities of blood in the stool, and support the classification of patients at risk in those presenting with symptoms resembling colorectal cancer (Snook et al., 2021).
This test may detect changes in the genes that control how the body makes red blood cells, and consequently the impact on its production and development of anemia (Pagana et al., 2022).
Typically, management of anemia depends on the underlying cause (Turner et al., 2022). For severe iron deficiency anemia, guidelines recommend that iron replacement therapy (IRT) in the form of intravenous (IV) iron in severe cases of anemia is ideal, as oral iron supplementation may be unsuccessful in advanced cases (Chopra & Anker, 2018). IV Iron replacement in the absence of a contraindication will improve this patient’s fatigue, activity tolerance, and offer better quality of life (Chopra & Anker, 2018). Patients with acute or ongoing blood loss or those requiring a rapid increase in iron levels may benefit from IRT (Turner et al., 2022). Anemia from acute blood loss will need to blood replacement with crossmatched packed red blood cells (Turner et al., 2022). Those patients with defects in the bone marrow and stem cells such as aplastic anemia will require bone marrow transplantation. Anemia due to chronic diseases such as chronic renal failure responds better to erythropoietin (Turner et al., 2022). However, in patients with thalassemia iron overload is a common adverse effect, and iron therapy may be harmful (Piriyakhuntorn et al., 2018).
An, R., Huang, Y., Man, Y., Valentine, R. W., Kucukal, E., Goreke, U., Sekyonda, Z., Piccone, C., Owusu-Ansah, A., Ahuja, S., Little, J. A., & Gurkan, U. A. (2021). Emerging point-of-care technologies for anemia detection. Lab Chip, 21(10), 1843-1865. https://doi.org/10.10.1039/do1c01235a
Chopra, V. K., & Anker, S. D. (2020). Anaemia, iron deficiency and heart failure in 2020: facts and numbers. ESC Heart Failure, 7, 2007-2011. https://doi.org/10.1002/ehf2.12797
Pagans, K. D., Pagana, T. J., & Pagana, T. N. (2022). Mosby’s manual of diagnostic and laboratory tests (7th ed.). Elsevier Publishers.
Piriyakhuntorn, P., Tantiworawit, A., Rattanathammethee, T., Chai-Adisaksopha, C., Rattarittamrong, E., & Norasetthada, L. (2018). The role of red cell distribution width in the differential diagnosis of iron deficiency anemia and non-transfusion-dependent thalassemia patients. Hematology Reports, 10(7605), 73-76. https://doi.org/10.4081/hr.2018.7605
Snook, J., Bhala, N., Beales, I. L. P., Cannings, D., Kightley, C., Logan, R., Pritchard, D. M., Sidhu, R., Surgenor, S., Thomas, W., Verma, A. M., & Goddard, A. F. (2021). British Society of Gastroenterology guidelines for the management of iron deficiency anemia in adults. British Medical Journal, 70, 2030-2051. https://doi.org/10.1136/gutjnl-2021-325210
Turner, J., Parsi, M., & Badireddy, M. (2022). Anemia. StatPearls Publishing. https://www.ncbi.nim.nih.gov/books/NBK499994/