Rare Diseases and Breast Cancer

Breast cancer has an enormous amount of funding and awareness, as it affects millions of woman worldwide. With the recent hubbub around Angelina Jolie’s decision to have a double mastectomy after discovering her BRCA1 gene left her particularly vulnerable to breast cancer, we wanted to highlight what types of rare diseases may affect breasts, especially considering that lessons from commons diseases can be applied toward rare disease.

Inflammatory breast cancer¹

This rare version of breast cancer aggressively blocks lymph vessels in the skin, causing swelling and redness. Since it affects the lymph nodes (including milk ducts), it may spread quickly. It may be difficult to notice as there may be no distinctive lump or abnormality, and its symptoms overlap with other possible issues. The rare disease affects around 5% of breast cancer cases.

Paget’s Disease of the Breast²

Paget’s Disease exhibits darkening and inflammation of the nipple and areola. It is accompanied with itching, crusty skin, and possible discharge. While the disease still requires more research, it is believed that a tumor has affected the milk ducts. The rare disease affects ~1-4% of all cases.

Extremely rare diseases

Although not identified as a rare disease by the National Organization for Rare Disease (NORD), two other disorders include Idiopathic granulomatous mastitis (IGM)³ and Calciphylaxis.⁴ IGM can only be identified by biopsy and Calciphylaxis is typically associated with Stage 5 kidney diseases, and can occasionally affect the breasts. Symptoms of the former are similar to normal breast cancer, while the latter would have very distinct markings.

What to do

Breast cancer foundations and educators have done a terrific job at raising awareness for self testing and occasional mammograms. Genetic predisposition can provide even greater predictive information for these diseases, but it may come at a greater cost. Insurance is more resistant to covering tests for less common genetic markers,⁵ but one can only hope that with the ever decreasing cost of testing and personalized medicine, hopefully it will soon become standard to evaluate genetic vulnerabilities to common and rare diseases.

References

1. http://rarediseases.info.nih.gov/gard/6784/inflammatory-breast-cancer/resources/1
2. http://www.rarediseases.org/rare-disease-information/rare-diseases/byID/787/viewAbstract
3. http://www.belsurg.org/uploaded_pdfs/106/106_222_224.pdf
4. http://www.ncbi.nlm.nih.gov/pubmed/18541104
5. http://blogs.kqed.org/stateofhealth/2013/05/28/insurers-balk-at-some-rare-genetic-tests-for-breast-cancer/