The Incidence and Severity of Physical Pain Symptoms in Marfan Syndrome: A Survey of 993 Patients.

OBJECTIVE

To characterize the incidence, severity, quality, and treatment of pain in a large cohort of Marfan patients.

MATERIALS AND

METHODS

A web-based survey was distributed to all individuals on the Marfan Foundation listserv. Respondents who endorsed a diagnosis of Marfan syndrome were queried as to the presence, frequency, severity, location, and quality of their pain and were asked to describe the specific treatments used to manage pain. The primary outcome was the presence of pain symptoms in respondents during the 7-day period preceding completion of the survey.

RESULTS

Of the 993 patients with a verified diagnosis of Marfan syndrome, 67% (95% confidence interval, 64%-69%) reported pain in the preceding 7 days. Median (interquartile range) "average daily pain" was 4 (3 to 5) on the numeric rating scale; "worst pain" was 7 (5 to 8). "Worst pain experienced" was ≥4 in 93% of respondents. Analgesic use to control pain related to Marfan syndrome was reported in 56% of respondents with 55% reporting <50% pain relief with this modality. Few patients underwent interventional procedures for pain control, despite intractable back and joint pain being common. A majority (52%) of respondents rated "chronic pain care" from their physicians as either "poor" or "fair."

DISCUSSION: Our findings suggest that pain symptoms in Marfan patients are underestimated and likely undertreated. We propose a need for improved patient and medical provider awareness of pain management options in this population, including the development of effective algorithms to treat pain in Marfan patients.