Management of invasive ductal carcinoma in hypermobile Ehlers-Danlos syndrome: a case report

Abstract

Literature is sparse regarding the management and long-term outcomes of breast cancer in patients with Ehlers-Danlos syndrome (EDS). Of the EDS subtypes, hypermobile Ehlers-Danlos Syndrome (hEDS) is associated with cardiovascular dysautonomia which manifests as spontaneous episodes of tachycardia and hypotension. Given this clinical autonomic system impact, hEDS is known to have significant intraoperative risk and postoperative complications. However, outcomes of hEDS patients have not been specifically studied in the field of breast cancer surgery. Here we present a case of a 62-year-old female with hEDS and node-positive invasive ductal breast carcinoma. Given the patient's medical history of hEDS, close attention was given to the patient's intraoperative vital signs and predisposition for poor wound healing. The patient underwent left Goldilocks mastectomy with left axillary lymph node dissection. Due to cardiac comorbidities, she was not a candidate for neoadjuvant or adjuvant chemotherapy. The patient tolerated adjuvant radiation and endocrine therapy without side effects, and has remained free of local, regional, and distant cancer recurrence following treatment. This case report highlights a literature gap in the surgical and radiation therapy management of breast cancer in patients with hEDS. Although breast surgery and radiation therapy in patients with invasive breast cancer and hEDS can be a safe management option, we discuss how perioperative complications must be cautiously navigated and how treatment must be tailored to individuals' specific hEDS variant to ensure optimal patient safety and positive long-term outcomes.

No Increase in Acute or Late Radiation Toxicities in Patients With Ehlers-Danlos Syndrome Receiving Adjuvant Breast Radiation Therapy: A Report of Four Cases With Extended Follow-Up

“…An in vitro experiment by Aghajanyan et al found increased radiation-induced chromosomal aberrations in irradiated lymphocytes of children with EDS when compared to that of control subjects, thus raising concerns about increased radiation damage to normal tissues [13]. However, apart from the aforementioned report by Holodny et al, all other case reports did not note any increased radiation toxicity and included radiation to a variety of sites including the axilla, supraclavicular fossa, mediastinum, breast, and brain [4][5][6][7][8][9]. To the best of our knowledge, the current report presents the highest number of case series to date, with the longest duration of follow-up, of women with EDS and breast cancer, treated with adjuvant conventional and hypofractionated radiation therapy to the breast.…”

“…Collagen vascular disorders have also been implicated in increased incidence and severity of radiation toxicities [3]. However, there have been few case reports on the safety of radiation therapy with EDS, and most case reports have a very limited duration of follow-up and have used conventional fractionation [4][5][6][7][8][9]. Table 3 compares the current report with available MEDLINE (Medical Literature Analysis and Retrieval System Online)-indexed case reports of patients with EDS who have received radiation therapy.…”

“…Collagen vascular disorders have been implicated in increased incidence and severity of radiation toxicities [3]. There have been few case reports on the safety of radiation therapy with EDS, and most of these have a very limited duration of follow-up and have used conventional fractionation [4][5][6][7][8][9]. Given potential concerns of increased radiation toxicity with EDS, we retrospectively examined the outcomes of patients with EDS who received adjuvant conventional or hypofractionated radiation therapy to the breast for breast cancer.…”