Background/Purpose:

Degos disease (Malignant Atrophic Papulosis) is a thrombotic microvasculopathy of complement activation, endothelial cell injury and progressive microvascular obliteration.  Lesions are marked by vascular C5b-9 deposition and a type 1 interferon rich microenvironment.  Systemic disease historically results in death within 2-3 years, most commonly from gastrointestinal perforations and the resulting sepsis or stroke.  There have been no effective treatment options.   Experience with this combination therapy for systemic Degos disease has resulted in prolonged survival for our patients with improved quality of life.

Methods :

We performed a retrospective analysis of the clinical outcomes of 4 patients with Degos disease treated with treprostinil and eculizumab.

Results:

Patients 1 and 2 were critically ill in late 2009 with gastrointestinal complications of systemic Degos disease.  Patient 1, a 51 year old man was started on eculizumab in October 2009.  Patient 2, a 25 year old man was started on eculizumab in December 2009.  Both patients experienced immediate, dramatic response.  Because of disease progression despite ongoing therapy with eculizumab, Patient 2 began therapy with treprostinil in December 2010 and Patient 1 in March 2014.  Despite lasting disease damage, both Patient 1 and 2 have regained good quality of life, are in stable health and are working full time.

Patient 3, is a 45 year old woman with cutaneous Degos lesions who developed sudden monocular vision loss and severe eye pain requiring enucleation.  Pathologic findings of microvascular changes were consistent with systemic Degos disease.  Exploratory laparoscopy in October 2012 revealed innumerable Degos lesions.  Based on the experience of the first 2 patients, and difficulty obtaining eculizumab, patient 3 began treatment with treprostinil.  Due to inadequate disease control, eculizumab was added.  Other than loss of vision in the affected eye, patient remains stable on dual therapy, working full time.

Patient 4 is a 56 year old woman who was seen with a 4 year history of biopsy confirmed cutaneous Degos disease and persistent and 1 year of intermittent episodes of intensifying abdominal pain, pericarditis and peripheral neuropathy suggestive of systemic progression.  Laparoscopy detected intestinal and hepatic lesions consistent with Degos disease.  Eculizumab was initiated in October 2015 and treprostinil in May 2016.  Since patient 4 began this treatment regimen her abdominal pain has resolved.  Her condition has been quiet and stable without major disease complication in two years of treatment. Her quality of life is good and she is working full time.

Conclusion:

Systemic Degos disease is extremely rare and our cohort is small (n=4), but these cases provide promising results in terms of patient survival and quality of life.  Among our 4 patients, two are approaching the 8-year survival mark.  Therapy with eculizumab and treprostinil may be an effective treatment for systemic Degos disease, especially if initiated prior to catastrophic sequelae.  Heightened awareness, early assessment for systemic involvement, rapid initiation of treatment and vigilant follow-up have been associated with prolonged survival.