Breast disease

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chapter 51 Breast disease

INTRODUCTION AND OVERVIEW

There are approximately 400,000 consultations for breast symptoms each year in general practice in Australia. The vast majority of these will be due to hormonal or benign breast changes. The general practitioner is the first port of call for the effective investigation of these symptoms and, importantly, to exclude or confirm breast cancer. For the thousands of women who are diagnosed with breast cancer each year, whether through mammographic screening or as a result of the investigation of a breast change, the GP provides information, treatment, surveillance and support throughout the patient’s journey, as a member of the patient’s treatment team.

BREAST HEALTH

Women of all ages should know the normal look and feel of their breasts—this is known as ‘breast awareness’. There is no evidence to support any specific technique for breast self-examination. For many women there is also a psychological barrier to conducting a technical systematic examination, often suggesting they are not confident in their technique. For these reasons women should be encouraged to get to know what is normal for them through normal activities such as showering, dressing, putting on body lotion, looking in the mirror. Most importantly, women should be encouraged to present early to their GP if they find a change in their breasts—they are not wasting their doctor’s time. This is important even if they have had a recent ‘normal’ mammogram.

FIGURE 51.1 Gross anatomy of the breast

In Australia, two-yearly mammographic screening is available free to all women aged 40 years and over through BreastScreen Australia. For women aged 50–69 years, there is strong evidence from international randomised trials for the effectiveness of mammographic screening in reducing mortality from breast cancer by about 30%. For women aged 40–49 years, the benefit may be smaller, as the effectiveness of mammography in detecting cancer is affected by the density of the individual woman’s breast tissue. BreastScreen does not actively target women aged over 70 years. However, given that risk for breast cancer increases with age, it is important that older women do not presume they are no longer at risk. For women aged 70 years or over, the benefits of mammographic screening will depend on whether there are any significant medical comorbidities.

Women who have a significant family history should be referred to a familial cancer or genetics clinic, where an individual surveillance program and management advice can be provided and, if appropriate, genetic testing can be conducted.¹

BENIGN BREAST DISEASES

During a woman’s life there are three main phases of breast change. Breast development and early reproductive life is followed by mature reproductive life and finally by involution.

There are regular changes in relation to the menstrual cycle. Pregnancy causes a doubling of the breast weight at term, and the breast involutes after pregnancy.

In nulliparous women, breast involution commences at around age 30 years. During involution the breast stroma is replaced by fat and the breast becomes softer and less radio-dense. Changes in the glandular tissue during involution include the development of areas of fibrosis, the formation of small cysts and an increase in the number of glandular elements (adenosis).

Most presentations to healthcare professionals are benign and are the result of aberrations of these normal physiological processes. The most common presenting symptoms are:

• breast nodularity

• breast lumps

• nipple discharge.

Despite the above statement, the most important consideration for the GP is to exclude cancer as the cause of the presenting symptom.

BREAST PAIN AND FOCAL BREAST NODULARITY

Premenstrual breast pain and nodularity, improving with the onset of menstruation, are so common in women as to be considered physiological, rather than being a disease. Severe pain and nodularity are aberrations of these normal cyclical changes, which occur in the breasts of all women during their reproductive years. Bilateral focal breast nodularity, sometimes referred to as fibroadenosis or fibrocystic disease, is the most common cause of a breast lump. If excised, these areas show either no pathological abnormality, or aberrations of the normal involutional process, such as focal areas of fibrosis or sclerosis.

Breast pain

The causes of breast pain can be cyclical or non-cyclical. The best way to assess whether pain is cyclical is to ask the patient to complete a breast pain record chart.

Cyclical mastalgia is the more common. It shows a definite relationship to the menstrual cycle and is often associated with nodularity of varying degree, maximal in the upper outer quadrant and showing similar cyclicity.

Non-cyclical mastalgia affects older women. The origin of the pain can be from the chest wall, as in costochondritis, the breast itself or outside the breast. The pain may be continuous or random in its time pattern. A careful history and examination is required, to exclude non-breast causes.

The aetiology of mastalgia is unclear. Abnormalities in the control mechanisms of the pulsatile secretion of gonadotrophins and/or prolactin are likely. Women with mastalgia have also been found to have abnormal fatty acid profiles, but the role of dietary factors such as caffeine and fats in the aetiology of breast pain is unclear.

Management

For the management of cyclical breast pain, diuretics, progestogens and vitamin B₆ have not been shown to be any more efficacious than placebo. After excluding cancer, reassurance that the pain is not related to cancer, and an explanation of the hormonal basis of breast pain, may be the only treatment required. A soft support bra worn at night may also assist. Some women find stopping the Pill or changing formulations may assist.

Evening primrose oil (gamma-linolenic acid) has been shown to reduce pain, nodularity and tenderness, at a dose of 3 g daily.² It has only minor side effects, including headache, nausea, gastrointestinal upset and possible drug interactions with anticoagulant and antiplatelet agents and phenothiazines. A trial of treatment should last 4 months and be monitored with a pain chart. It does not interact with oral contraceptives.

Several clinical studies in women have suggested that chasteberry (Vitex agnus castus) is efficacious in reducing symptoms associated with premenstrual symptoms (PMS) including mastalgia.^2,³ This herb contains steroidal precursors and active moieties including progesterone, testosterone and androstenedione. Chasteberry may interact with oral contraceptives, other hormonal therapy and dopazmine antagonists such as haloperidol and prochlorperazine. Adverse effects reported include nausea, rash, headache and agitation.

If symptoms remain unresponsive to these therapies, consider referral. A range of medications are available to specialist practitioners, including bromocryptine, danazol, tamoxifen and goserelin.

Benign breast lumps

Fibroadenomata

Fibroadenomata result from a focal proliferation of benign breast elements, both epithelial and stromal, and are influenced by hormonal factors. They may fluctuate during the menstrual cycle and pregnancy. They are most common in the 20–30 year age group and are uncommon post menopause.

On clinical examination they are typically smooth, mobile, rubbery masses, which may be tender, especially premenstrually. They may be single or multiple. On breast ultrasound they appear as a well-defined ovoid homogenously hypoechoic mass with smooth margins and increased through transmission.

Diagnosis is confirmed by non-excisional biopsy. Ultrasound-guided core biopsy is used more commonly because of the high proportion of fibrous tissue to epithelial tissue, which increases the risk of not sampling the epithelial cells on fine needle aspiration.

Once the diagnosis is confirmed, fibroadenomata may be managed by either surgical excision or regular clinical and imaging review over 12–18 months until the lesion is proved to be stable. Should the lesion significantly increase in size or develop atypical features on imaging, it should undergo excision biopsy. New palpable fibroadenomas in women aged over 40 years should be referred to a breast surgeon for consideration of excision biopsy, because the likelihood of a new lump being cancer increases with age.⁴

Phyllodes tumour is a rare fibroepithelial tumour that produces a spectrum of diseases ranging from benign (with a significant risk of local recurrence) to malignant (sometimes with rapidly growing metastases). Clinically they may be indistinguishable from fibroadenoma, presenting as a smooth, rounded, painless breast lump that has continued to increase in size. Their appearance on mammogram and ultrasound may also resemble fibroadenomata. Diagnosis is confirmed by histology following excision biopsy.

FIGURE 51.2 Fibroadenoma: A Mammogram showing two well-defined masses; B Ultrasound of the lesion nearer the nipple in A

Breast cysts

Breast cysts are distended and involuted lobules. They are hormonally responsive and may fluctuate in size during the menstrual cycle. They occur less commonly in postmenopausal women unless the woman is on hormone therapy.

Most breast cysts are impalpable and asymptomatic and are an incidental finding on breast imaging. They may present as a smooth and sometimes painful discrete breast lump. A cluster of cysts may present as a tender area of nodularity.

FIGURE 51.3 Breast cyst visible on ultrasound

Cysts have characteristic halos on mammography, and on ultrasound appear as an anechoic lesion with smooth, defined borders and thin capsule with enhancement deep to the lesion, due to the transmission of the ultrasound through the fluid.

Large, painful cysts may be aspirated. The aspirate should be sent to cytology if the lump does not resolve completely with aspiration, if the aspirate is bloodstained or if the cyst has suspicious features on ultrasound, such as internal echoes or an intracystic lesion.

After aspiration, the breast should be re-examined to check that the mass has disappeared. Any residual mass needs full assessment by mammography and non-excisional biopsy to exclude cancer.

BREAST CANCER

BACKGROUND AND PREVALENCE

Breast cancer is the most common invasive cancer diagnosed in women in developed countries and the greatest cause of cancer-related death in women.^1,⁵ There is very good evidence that survival is related to the size and stage of the disease at diagnosis: the earlier the cancer is diagnosed, the greater the chance of effective treatment.^1,⁵

However, even with a fully implemented mammographic screening program, more than 50% of the cancers diagnosed each year will be found as a result of a change in the breast detected by the woman or her doctor. Symptoms of breast cancer include:

• a new or unusual lump/thickening or lumpiness in one breast

• nipple discharge (especially if bloody or serous)

• new nipple inversion or change, such as crusting or ulceration of nipple

• redness, dimpling or puckering of the skin overlying the breast

• unusual and persistent breast pain.

The GP is the first port of call for women with a new breast symptom, the vast majority of which will not be due to breast cancer. The challenge for the GP is to effectively investigate these symptoms and determine those that may be due to breast cancer.

AETIOLOGY

Despite much research into causes and risk factors for breast cancer, we have no means of preventing this disease.⁶ There are a number of factors that bear on the probability of a particular symptom being due to a breast cancer.

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