Keywords

1 Introduction

The purpose of identifying and treating benign breast disease is twofold: to identify underlying breast cancer or exclude its presence and treat symptoms. Breast complaints are common in gynecologic practice, and benign breast conditions are within the scope of practice of a general ob-gyn. Referral for specialty services should be provided to patients with atypical biopsies, discordant biopsies, breast cancer, biopsy findings that require excision, nonhealing abscesses, and hereditary breast and ovarian cancer syndromes. Elsewhere in this book, breast cancer screening in the asymptomatic woman is described. This chapter will focus on the evaluation and treatment of the symptomatic patient. Focus will be on the most common breast complaints: breast masses, breast pain, nipple discharge, and breast infections. Table 1 lists conditions for which specialty care is required, and the patient should be referred.

Table 1 Indications for referral to a breast specialist
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1.1 Clinical Breast Exam

Clinical breast exam (CBE) should be part of a well woman health evaluation. The American College of Obstetricians and Gynecologists recommends women undergo CBE every 1–3 years between ages 20 and 39 and every year after age 40. If the patient is still menstrual, the ideal time to perform the exam is immediately after menses when breast tissue is most quiescent.

The clinical breast exam should encompass all breast tissue from the clavicles to the inframammary folds and from the midaxillary lines to the sternal borders. Axillary and supraclavicular lymph nodes should be included in the field of examination. On clinical breast exam, dominant masses should be described by size, position on the clockface (with the nipple at the center, 12 o’clock superior, 6 o’clock inferior, etc.), and distance from the nipple (e.g., 2 cm mass at 4:00 3 cm from the nipple). The mobility of the lesion or lack thereof should be described as well as any overlying skin changes. The presence or absence of lymphadenopathy in the axillary or supraclavicular beds should be noted. Findings on clinical breast exam concerning for malignancy include tethering to the skin or underlying muscle, relative immobility of the mass, irregular or indistinct borders of a dominant mass, the presence of a mass with single duct bloody nipple discharge, overlying skin changes including erythema or induration, and the presence of axillary or supraclavicular adenopathy.

1.2 Palpable Mass

A palpable mass is a three-dimensional finding distinct from the surrounding breast tissue and is a common breast complaint. When a patient presents with suspicions of a palpable mass, she should be asked to describe when and how it was first discovered, how long it has been present, and if it is still palpable, does it change with her menstrual cycle, has she appreciated it before (i.e., does it come and go), is it painful, are there skin changes or nipple discharge, and has she had a breast mass previously in either breast. Masses that wax and wane with menstrual cycles are consistent with fibrocystic changes and are rarely pathologic. History of a previous breast cyst or fibroadenoma may be informative as patients are at risk for additional lesions. Alternatively a palpable mass in conjunction with bloody nipple discharge is highly concerning for carcinoma. Overlying skin changes indicate an inflammatory process but can also be concerning for inflammatory carcinoma.

Table 2 describes what should be documented when examination reveals a mass distinct from the surrounding breast tissue. A palpable breast mass should be evaluated by the triad of clinical breast exam (CBE), imaging (ultrasound in all patients with the addition of mammogram in patients over 30), and biopsy. Even in recent series, between 9% and 22% of palpable breast cancers were not apparent on breast imaging (Morrow 2000). In young patients with a benign clinical breast exam and benign appearing imaging (BIRADS 2), tissue sampling may be omitted, but as breast carcinoma or cancerous lesions metastasizing to the breast (lymphoma, sarcoma) can present in teenaged patients, careful consideration should be given to securing a definitive diagnosis of any dominant mass with tissue sampling. Tissue sampling should be accomplished with a needle wherever possible (Silverstein et al. 2009). Surgical excision of a previously unsampled breast mass should be rare. The majority of lesions will be benign and unlikely to need excision. The uncommon malignant lesion will not be completely treated by simple excision (if breast cancer) or may not be treated surgically at all (if lymphoma or metastatic sarcoma). A concordant diagnostic triad of benign CBE, benign imaging, and benign biopsy carries a false-negative rate (or the chance that an underlying cancer may be missed) of less than 1% (Ariqa et al. 2002). Concordance of all three elements of the diagnostic triad is key. Any discordance between the clinical exam, imaging impression, and biopsy results should trigger a second biopsy or surgical excision.

Table 2 Pertinent findings when documenting a breast mass
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Management of the lesion is guided by the biopsy results. Asymptomatic benign masses less than 3 cm in size can be followed with ultrasounds to demonstrate stability every 6 months for 2 years. Any patient who is bothered by the sensation or presence of a mass should be offered excision. Surgical excision should be considered for lesions larger than 5 cm due to sampling concerns as breast lesions can be heterogeneous. Additionally, larger lesions can be cosmetically destructive even if benign and are better excised before they require more extensive if not reconstructive surgery. If atypia is identified within any lesion, surgical excision is warranted for definitive diagnosis and cancer risk reduction. Table 3 summarizes benign breast histology by risk of breast cancer as well as treatment considerations. Not all lesions listed will present as a palpable mass. For example, radial scar is most often identified by stereotactic core biopsy after a mammographic finding. However they are including Table 3 as a reference for interpreting breast biopsy results.

Table 3 Breast histology stratified by risk of breast cancer
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Table 4 includes benign causes of palpable breast abnormalities and recommendations for management. Common benign causes of palpable breast masses include simple cysts and fibroadenomas. Cysts appear as empty black circles on ultrasound as cyst fluid allows free passage of ultrasound waves without reverberating back to the transducer. They often grow suddenly and are painful at first detection. They may be symptomatic with menses. They may be aspirated to alleviate tenderness. Cyst fluid should only be sent for cytology only if it is frankly bloody, as analysis of cyst aspirate has not been shown to be sensitive or specific for malignancy (Ciatto et al. 1987). Green, black, dark brown, yellow, and clear fluid may be discarded. After cyst aspiration if any mass remains, it should be biopsied to avoid missing the solid component of a complex cyst. Cysts should only be surgically excised if they recur after multiple aspirations.

Table 4 Common causes of palpable breast masses and management
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Fibroadenomas are the most common solid benign mass, occurring in up to 25% of asymptomatic patients (El-Wakeel and Umpleby 2003). Fibroadenomas are biphasic lesions with both epithelial and stromal components. They belong to a family of lesions that include benign phyllodes tumors and cystosarcoma phyllodes. They frequently are nontender, firm, and very mobile and do not change with menses. Lesions less than 3 cm may be followed expectantly or excised based on patient preference. Many patients with fibroadenoma will form more than one lesion and may not desire multiple excisions. Fibroadenomas larger than 5 cm raise the suspicion of a phyllodes tumor. Larger lesions may be undersampled by needle biopsy and should be excised. Preoperative needle biopsy remains important however because a known phyllodes tumor is excised with a 1 cm margin to minimize recurrence, whereas a known fibroadenoma is not. In fact the compressed pseudocapsule of breast tissue that surrounds a fibroadenoma is carefully preserved at excision as it will decompress, often by the time the skin is closed, to fill in the defect left by the excised lesion. Phyllodes tumors even if benign are always excised as they are locally aggressive and cosmetically destructive.

The management of breast cancers, carcinomas or sarcomas, is beyond this chapter.

1.2.1 Breast Pain

Mastalgia is the most common breast complaint (Morrow 2000). It is more common among premenopausal patients than postmenopausal. Association with an underlying cancer is unusual but not impossible: in one series 16% of 240 patients with breast cancer presented with pain alone as an initial symptom (Preece et al. 1982). Concern for an underlying cancer may be what prompts the patient to seek medical attention, and a thorough evaluation should be performed to exclude malignancy.

Cyclic mastalgia is generally described as a dull heaviness, worsened with pressure and movement and poorly localized. It may radiate to the axilla or shoulder. It may be alleviated with anti-inflammatory medications. Noncyclic mastalgia is unrelated to timing of the menstrual cycle and is more common in the 40s and 50s. It may also be poorly localized and may not respond to over-the-counter medications. The underlying cause of breast pain is unknown. Premenstrual mastalgia suggests a hormonal cause, but no fluctuations or abnormalities of serum estrogen or progesterone levels have been shown to be associated with breast pain. Overuse of caffeine has also been postulated, but three studies looking at caffeine exposure and restriction in response to breast pain, including randomized control trials, have not demonstrated an association (Allen and Froberg 1987).

In eliciting a history from a patient with breast pain, the duration and character of the pain should be characterized, as well as its location and relationship to the menstrual cycle. Any patient with recently missed menses should be evaluated for pregnancy as breast pain can be an initial symptom of a recently pregnant patient. The evaluation of mastalgia includes a clinical breast exam and a screening mammogram if the patient is over 35. Younger women may be appropriately evaluated with clinical breast exam alone without imaging if the exam is normal. Any palpable abnormality should be evaluated with ultrasound and possibly biopsy. Focal areas of tenderness may be ultrasounded to detect an underlying cyst too deep to appreciate on exam. Mastalgia is often self-limiting, resolving spontaneously in 3–6 months up to 80% of cases (Orr and Kelley 2016). Patients for whom the pain is severe enough to interfere with daily life and for whom it has persisted beyond the 3–6-month window expected for spontaneous resolution are candidates for intervention. Table 5 outlines treatment options for mastalgia. The only FDA-approved medication for breast pain is danazol , an antigonadotropin. Response rates in clinical trials approached 75% for both cyclic and noncyclic breast pain at doses of 100–400 mg/day, with a slightly better rate seen in noncyclic pain patients (Mansel et al. 1982). Side effects include virilizing symptoms including deepening voice, weight gain, acne, and male-pattern hair loss and hair growth and limit its acceptability to patients. Tamoxifen a mixed estrogen receptor agonist/antagonist can be tried in an off-label manner for 3–6 months. It blocks estrogen stimulation of the breast. Small studies of 10–20 mg daily have demonstrated pain relief (Fentiman et al. 1986; Messinis and Lolis 1988). Side effects include vaginal discharge, irregular uterine bleeding, and hot flushes. Long-term use has been associated with increased thromboembolic events, endometrial stimulation including hyperplasia and cancer, and cataracts.

Table 5 Treatments for breast pain
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For patients wanting to try a herbal approach, evening primrose oil has been studied to treat breast pain with mixed results that mimic placebo effect; however, side effects were rare (Morrow 2000). Studies investigating caffeine restriction and vitamin E supplementation showed no benefit. Surgery has no role in the treatment of breast pain outside the excision of a tender mass.

1.2.2 Nipple Discharge

Nipple discharge can be divided into physiologic discharge, potentially pathologic discharge, and discharge due to an underlying endocrine disorder or medication use. Single duct spontaneous clear or bloody nipple discharge is concerning for underlying breast pathology and should be worked up rigorously. The most common cause of spontaneous bloody nipple discharge is a benign intraductal papilloma, but an underlying ductal carcinoma must be ruled out.

Key questions to ask when taking the history of a patient complaining of nipple discharge include the color of the discharge, with bloody or clear being most concerning and black or green being most likely physiologic. The patient should be asked to describe whether it is spontaneous or seen only with expression or manipulation of the nipple. If the patient has seen the discharge as it exists the nipple, she should be asked if it extrudes from one duct or several, with physiologic discharge seen at multiple points on the nipple. Single duct spontaneous discharge is most concerning. Table 6 describes pertinent characteristics that discern physiologic discharge from pathologic.

Table 6 Characteristics of nipple discharge
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On clinical breast exam, the examiner should perform the exam as usual but then sweep all four breast quadrants with an eye on the nipple to note where pressure on the breast elicits the discharge. If discharge is expressed, the area of the breast being examined when the discharge was seen should be noted, as well as the color and how many ducts it involves. In the past, discharge has been sent for cytology. Studies have shown low sensitivity and specificity of cytologic studies of nipple discharge, so the test should no longer be ordered. Nipple discharge most concerning for underlying malignancy is single duct spontaneous clear or sanguineous discharge associated with a palpable mass. Workup includes diagnostic mammography, retroareolar ultrasound on the affected side, and biopsy of any identified lesions. If exam, mammogram, and ultrasound fail to identify a source, a ductogram may be considered. By injecting a radiopaque dye into the affected ductal system, a filling defect on subsequent mammogram may identify an intraductal mass. The ductogram is limited in its ability to localize and biopsy a lesion however. In the past decade, ductogram has largely been replaced by breast MRI with and without contrast, as lesions can be localized and biopsied with MRI guidance.

Physiologic nipple discharge is common with repeated nipple stimulation, for example, with rigorous routine self breast exam, sexual activity, or nipple piercing or accessories. Once discharge is seen, some patients may feel a sensation of fullness behind the nipple that is alleviated by expressing the discharge, and others may feel compelled to express discharge in an effort to keep the area clean. By repeatedly expressing or checking for discharge, they are reinforcing its production and increasing its occurrence. The color is often black, brown, green, creamy, or clear and usually is elicited from more than one duct in the nipple. Retroareolar ultrasound may identify dilated ducts or duct ectasia . Green or black multi-duct nipple discharge that is seen only with expression from the nipple is not pathogenic but may be unnerving for the patient. Careful explanation of the mechanism of nipple stimulation to increase fluid production from the nipple and breast is important for patient reassurance, and treatment is cessation of nipple stimulation to diminish fluid production.

Galactorrhea, or bilateral milky or creamy nipple discharge, usually identified in the absence of breast stimulation and coming from multiple ducts in both breasts is suggestive of an underlying endocrine disorder. Both prolactin-secreting tumors and hypothyroid disorders can present with galactorrhea . Please see the chapter entitled “Hyperprolactinemia, Galactorrhea, and Pituitary Adenomas” for a more detailed discussion of galactorrhea. History and physical should focus on symptoms and signs of endocrinopathy including infrequent or absent menses, headaches, bitemporal vision loss, changes in appetite and weight, dryness of the hair and skin, and depressed energy and mood. Lab studies should include TSH and prolactin. If prolactin is elevated, a brain MRI focused on the sella turcica for pituitary lesions should be obtained and the patient referred for specialty care. Treatment may involve resection or medical therapy with antiprolactin medication like bromocriptine .

Nipple discharge may also be related to medication use, particularly psychotropic medications. A careful medication history should be taken with attention paid to medications started or stopped in coincidence with onset of discharge.

1.3 Mastitis

Mastitis or inflammation of the breast can be due to several underlying causes: an acute peripheral abscess , a subareolar or periareolar abscess or fistula, granulomatous mastitis most commonly idiopathic in this country, or inflammatory breast cancer. Each has distinct presentation, treatment, recurrence risks, and workup.

Mastitis is most commonly due to a bacterial infection. The most common pathogen is Staphylococcus aureus or skin flora. Antibiotic treatment is often initiated after a presumptive diagnosis of bacterial infection is made, but careful follow-up within 1 week is warranted to exclude a missed diagnosis of breast cancer. Risk factors for breast infections and abscesses in non-lactating women include diabetes, smoking, and obesity. Common presenting symptoms are pain, redness, warmth, and fever. On physical exam, the affected breast is warm to touch, erythematous, and tender. An associated mass suggests an underlying abscess, and a breast ultrasound should be ordered for further evaluation. Abscesses smaller than 5 cm are often amenable to needle drainage; larger abscesses may require surgical incision and drainage. Antibiotic coverage should vary by local sensitivities, but Table 7 lists suggested targeted therapies to common pathogens. Patients should be followed closely for several weeks to ensure response to treatment. A clinical diagnosis of mastitis that does not respond to appropriate antibiotic treatment should be reevaluated for underlying malignancy. Ultrasound may be used to identify an underlying mass or lymph node for needle biopsy. If pus is encountered, it should be cultured for pathogen and sensitivities as antibiotic resistance is a growing problem.

Table 7 First-line antibiotic therapy for mastitis
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Bacterial infections of the breast are common in 10–20% of patients who are postpartum or nursing but may occur in otherwise healthy non-lactating women. Risk factors include milk stasis, blocked ducts, ineffectual infant feeding due to latch issues or poor suck, stress, tight-fitting clothes or bras, or skin irritation and breakdown. Clinical presentation is similar to breast infections in non-lactating women. Treatment includes antibiotics, warm compresses to encourage milk expression, and aggressive massage and nursing (or pumping) to alleviate milk stasis . Antibiotic therapy should include aerobic and anaerobic coverage and should be with an agent safe for breastfeeding (see Table 7). Continuation of breastfeeding should be encouraged as prevention of milk stasis is of paramount importance to clear the infection. Infants are more effective at draining the breast than pumps. Mothers can be reassured the breast infection does not pose a risk to her infant due to mother’s immunity present in the milk, antibiotic present in the milk, and an infant’s gastrointestinal immune defenses. If the mother chooses to stop breastfeeding, often due to discomfort, she should be educated she needs to continue to drain the breast with hand expression or a pump until the infection resolves. If an abscess is present, it should be treated similarly to that in a non-lactating patient. She should be counseled regarding the rare risk of milk fistula formation but be reassured most spontaneously resolve with cessation of breastfeeding.

Peri- or subareolar abscesses are a distinct entity from peripheral breast abscesses. Patients will present with a painful subareolar infection that commonly fistulizes with drainage of pus from a defect at the periareolar border. They are frequently recurrent. Smoking is an important risk factor (Orr and Kelley 2016). The pathogenesis is thought to be squamous metaplasia of the terminal ductal epithelium with intussusception of secretions leading to infection and abscess formation. Acute abscesses should be treated with drainage if not draining already and antibiotics. When the inflammation has subsided, a duct excision via a radial incision is indicated to remove the occluded duct and excise the fistulous tract to prevent or treat a chronic fistula.

Every nonhealing abscess should be evaluated with biopsy of the abscess wall to rule out inflammatory breast cancer. If no breast mass is identifiable by exam or imaging, the leading edge of skin erythema should be sampled with a punch biopsy. Inflammatory breast cancer can be readily identified by tumor cells in the dermal lymphatic system, creating the classic peau d’orange skin appearance of thickened erythematous skin with dimpled appearance. Inflammatory breast cancer is a poorly differentiated aggressive breast cancer that is systemic at its inception and carries a poor prognosis. The patient should be referred immediately to oncology for chemotherapy.

Rarely biopsy may reveal granulomatous mastitis , caused by either fungal or tuberculosis infections in the developing world but more commonly idiopathic granulomatous mastitis (IGM) in the USA. IGM describes an even more rare condition that presents with acute inflammatory changes and abscesses in the absence of infection or malignancy. It is a diagnosis of exclusion with granulomas seen on biopsy but no TB or fungal infections identified on special staining. The natural history is that of spontaneously occurring and resolving breast abscesses. Effective treatment is unknown although short courses of steroids are often used to diminish inflammation.

2 Conclusion

Breast complaints are common and distressing to patients, both due to their symptomatology and an underlying cancer-related anxiety. The evaluation of a breast complaint should be thorough to detect or rule out breast cancer and if appropriate reassuring to the patient. We have discussed the most common causes of benign breast disease. Patient education regarding normal breast health and abnormal breast findings is important.