Abstract

Introduction: Gardner-Diamond Syndrome (GDS), also known as psychogenic purpura, is a rare disorder characterized by unexplained recurrent painful bruising typically arising after physical and/or psycho-emotional stress. Classically ecchymoses (ecch) spontaneously appear and are associated with a prodrome of warmth and pain at the ecch sites. Prior GDS reports are limited to single cases or small series.

Aims:To characterize presentation, natural history, management and long term outcomes (LTO) of GDS.

Methods: In this retrospective study, after IRB approval, patients (pt) with GDS, encountered between 1976 and 2016, were identified from within Mayo Clinic Rochester clinical databases. Medical records of consenting pts were reviewed.

Results: 75 females (ages 16-69 years (yr)) and 2 males (46-65 yr) met our study criteria. Pt presented 3.2 yrs (range 0-27) after onset of initial symptoms (sym). 52 pt (67.5%) had an antecedent history of physical abuse (n=2), trauma (n=12), an emotional event (n=13), surgery (n=11), or infection (n=3). Prodromal sensations prior to appearance of ecch in 55 pts (71.4%) were described as itching (n=15), burning (n=19), stinging (n=11), and/or pain (n=44). Other localized sym after appearance of ecch included swelling (n=46) and pain (n=67). Maximum size of ecch ranged from >0 and ≤5 cm (n=26), ≥6 and ≤ 10 cm (n=14), and >10 cm (n=13) and not described in 24 pts Systemic sym at time of ecch, reported in 49 pts, included malaise (n=26), myalgia (n=21), headaches (n=19), fevers (n=15), and abdominal pain (n=10). 50 (65%) of pts' lesions were isolated to arms and legs, while 27 (35%) had trunk and head involvement in addition to extremity involvement. Ecch duration varied: 0-7 days (n=14), 1 week-1 month (n=31), or >1 month (n=5) and not described in 27 pts.

Complete blood count was normal (nl) in 84% (64/76) of pts tested; anemia was the most common abnormality. PT, APTT, VWF, and Factor XIII screen were nl in 100% (67/67), 98.4% (63/64), 97.9% (46/47), and 100 % (30/30) of pts respectively. Platelet aggregation studies were nl in 83% (25/30) with abnormalities attributed to drug effect. Bleeding (bld) scores (ISTH BAT), calculated with exclusion of cutaneous (cut) manifestations in scoring, were: 0 (n=48), 1 (n=12), 2 (n=9), 4 (n=2), 5-6 (n=2), 7 (n=2), and 9 (n=2). 21 pts had testing with subcut injections of autologous red cells (SCIAR) with 9 positive and 2 equivocal. 28 pts had skin biopsies with the most common finding being subcut hemorrhages.

45 pts (58.4%) underwent psychiatric (psych) evaluations and 7 (15%) pts were found not to have a psych dx. 42 pts had a psych dx including depression (n=23), hysterical personality (n=8), anxiety (n=2), personality disorder (n=2), psych other (n=7). Of these pts, 4 did not undergo further psych eval given prior dx. 42 pts had a history of a neurological dx including headaches (n=34), paresthesias (n=10), and seizures (n=7). Additional pharmacological treatments (pharmt) were recommended for 30 pts: antidepressants (n=4), antihistamines (n=13), anti-inflammatory/immunosuppressants (n=11), or hormonal (n=2) medications. 47 pts were treated with observation and/or counseling alone to address psychological stressors. 28 pts had follow-up (fu) at least 1 yr (1 to 34 yrs) after the initial visit. 13 of these pts had no mention of recurrence during fu while 15 pts had continued recurrence. Of those with recurrence, 7 pts continued to seek fu for GDS.

Conclusion: In this large clinical cohort of GDS pts we confirm and expand on known clinical findings of GDS. Majority of pts had fairly benign disease (dz) manifestations; however, in a subset, a negative impact on pt quality of life was noted due mainly to persistent/recurrent pain. Refractory dz was mostly associated with ongoing/ recurrent stressors. The relatively low bld scores, together with laboratory assessments, support that GDS is primarily a dermal rather than a systemic bld diathesis. SCIAR did not provide additional value in dx. CBC, PT, APTT & VWF testing should be performed, and platelet testing considered, to rule out other hemostatic dz. Addressing stressors was the most effective treatment for pts, however pharmt was given for refractory dz. Though our study provides new insights regarding dx, therapy and LTO, future work investigating the pathophysiology leading to the hemostatic abnormalities in GDS would be valuable.

Disclosures

No relevant conflicts of interest to declare.

Author notes

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Asterisk with author names denotes non-ASH members.