Differential Diagnoses as Element of Clinical Reasoning

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Introduction

The use of differential diagnosis is a vital element of clinical reasoning, allowing to consider various conditions which may cause a patient’s symptoms. By developing alternatives and prioritizing them by likelihood and urgency, appropriate testing can be conducted to confirm or rule out possibilities to arrive at the final diagnosis. This paper will examine and compare three differential diagnoses of fibrocystic breast disease, breast cyst, and fibroadenoma.

Compare and Contrast

Fibrocystic breast disease is the most prevalent type of benign disease in the breast. The presentation consists of fibrous and cystic changes in the breast. The breast may feel lumpy, tender, and dense, with fibrous (stromal) tissue becoming prominent. Alongside, numerous cysts may form, large and small, pushing against the breast tissue causing pain. Benign cysts are mobile in the glandular breast tissue and are rubber-like in texture, with some cases seeing nipple discharge (Malherbe & Fatima, 2020). A breast cyst is presented as a fluid-filled, round, or oval sac in the breast with distinct edges. It is a movable lump that is tender to the touch, but rarely firm (Mayo Clinic Staff, n.d.). Therefore, despite fibrocystic breast disease also presenting cysts, it is diagnosed based on breast lumps and swelling of the rubbery and firm fibrous tissue that would not be present in breast cysts (American Cancer Society, 2019).

Meanwhile, fibroadenomas are solid, benign breast lumps. Lumps are firm, rubbery, smooth, can be mobile, and have a well-defined shape. Most usually fibroadenomas are completely painless (Ajmal & Van Fossen, 2020). In comparing fibroadenomas to breast cysts, there is a difference in texture. Fibroadenomas are not fluid-filled and painless and firm to the touch, while breast cysts are fluid-filled, being soft and tender. Fibroadenoma is more distinct with a discrete, typically individual, well-circumscribed lesion. In comparison, the fibrocystic disease will contain areas that are poorly circumscribed of fibrocystic change alongside the presence of cysts that differ in texture from the fibroadenoma lump.

The pathophysiology of fibrocystic breast disease is based on high values of estrogen and deficiency of progesterone which leads to hyperproliferation of connective tissue (fibrosis) which is then followed by facultative epithelial proliferation. Mammary gland development and maturation which impact hormonal change influence the stromal and epithelial cells. In the late proliferative phase, glandular tissue transforms into hyperplastic stages the likes of sclerosing adenosis or lobular hyperplasia (Malherbe & Fatima, 2020). Similarly, fibroadenoma stems from stromal and epithelial connective tissue cells which contain receptors for estrogen and progesterone. Levels of estrogen and progesterone increase during puberty or pregnancy, which lead to cell proliferation, of these connective tissue cells which originate in the terminal duct lobular unit (Ajmal & Van Fossen, 2020). Breast cysts are much simpler in pathophysiology, resulting due to fluid accumulation inside breast glands. However, the exact causes are unclear, with researchers believing it to be also a result of hormonal changes such as during monthly menstruation with excess estrogen stimulating breast tissue that contributes to breast cyst growth (Mayo Clinic Staff, n.d.).

Fibrocystic breast disease is highly prevalent, affecting women of all ages, but primarily those of child-bearing age. There are ranging estimates to its prevalence, but it is the most common benign breast condition, typically affecting women aged 35-50 at its peak and depending on study, 35-75% of women have indicated the condition in their lifetime (Santen, 2018). Similarly, cysts are seen in women of all ages but most often found in women of pre-menopausal ages 35-50. Breast cysts by themselves are not common, affecting about 7% of women in the Western nations (Mayo Clinic Staff, n.d.). Meanwhile, fibroadenomas are seen primarily in adolescents and young adults, women aged 14 to 35 years old. Typically, fibroadenomas shrink after menopause, therefore less common in older women. Fibroadenomas are the most common benign tumor in adolescents, accounting for 68% of all breast masses but the overall incidence is approximately 2.2% (Lee & Soltanian, 2015).

Testing

After a physical exam, appropriate evaluation for fibroadenomas include a diagnostic mammogram and a breast ultrasound. Diagnostic mammogram can visualize the fibroadenoma which appears as a distinct area from other breast tissue, as either a well-circumscribed discrete oval mass with hypodense or isodense glandular tissue or a mass with partially obscured margins and macro lobulation. Ultrasound also aids in detecting features of the fibroadenoma, easily differentiating it from cysts due to its well-circumscribed and round-oval form (Ajmal & Van Fossen, 2020). Breast cysts are evaluated via physical exam and usually recommend a breast ultrasound. The ultrasound aids in determining whether the lump is filled with fluid or solid. A fluid-filled lump is indicative of a breast cyst. A fine-needle aspiration may be used, where the clinician inserts a needle into the lump with the attempt to aspirate fluid, using the ultrasound to guide the needle. Once the fluid comes out and the lump disappears, it is a confirmed breast cyst and no further testing or intervention is necessary (Mayo Clinic Staff, n.d.).

Fibrocystic breast disease warrants triple testing, combining clinical examination, imaging, and excision biopsy. Any nodularity in women younger than 30 can be observed with clinical surveillance, and short-term follow up of 2-3 months. Women older than 30 should receive further investigation with imaging immediately. Mammography and ultrasound is used for all discrete palpable lesions to distinguish cysts from solid lesions. Complex cysts or solid lesions detected, warrant a core biopsy to determine presence or absence of malignancy (Malherbe & Fatima, 2020).

National Guidelines

National guidelines for these conditions and general benign breast disorders are dictated by the American College of Obstetricians and Gynecologists (2016). Regarding breast cysts, the most common non-proliferative lesion, the guidelines indicate that these can be found through physical examination, imaging studies or breast biopsies, often for other indications. However, simple breast cysts are virtually always benign and require aspiration only if bothersome to the patient. The guidelines indicate to use ultrasonography in distinguishing fibroadenomas from breast cysts since these may appear similar on examination or mammography. Solid masses identified require further diagnostic testing such as biopsies. Fibrocystic breast disease is also viewed as proliferative without atypia, diagnosed with imaging such as ultrasonography, mammography, or digital tomosynthesis based on patient’s age and clinical suspicion. For all benign breast conditions, core needle biopsy should be used in any solid masses or suspicious lesions in order to evaluate for breast cancer. Excisional biopsy is reserved for specific scenarios (American College of Obstetricians and Gynecologists’ Committee on Practice Bulletins—Gynecology, 2016).

Conclusion

The conditions fibrocystic breast disease, breast cyst, and fibroadenoma described and compared in this paper are inherently similar as benign breast disorders. They differ only in small differences in presentation and ages of occurrence. However, for clinical confidence, all of the diagnoses require diagnostic imaging tests to identify the detailed composition of the tissue which is the defining characteristic in distinguishing between the cases.

References

Ajmal, M., & Van Fossen, K. (2020). StatPearls Publishing. Web.

American Cancer Society. (2019). Web.

American College of Obstetricians and Gynecologists’ Committee on Practice Bulletins—Gynecology. (2016).Obstetrics and Gynecology, 127(6), e141–156. Web.

Lee, M., & Soltanian, H. T. (2015). Adolescent Health, Medicine and Therapeutics, 6, 159–163. Web.

Malherbe, K., & Fatima, S. (2020). StatPearls Publishing. Web.

Mayo Clinic Staff. (n.d.). Web.

Santen, R. J. (2018). (eds), Endotext. MDText.com, Inc. Web.

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