[MIM 182 410]

Annual incidence estimated at around 1/250,000. Non-inflammatory arteriopathy combining early livedo reticularis (second decade) and the involvement of medium-sized arteries (maily cerebral) in young adults. Caused by loss-of-function mutations in the ADA2 (CECR1) gene (22q11.2) encoding adenosine deaminase 2 have been found (see Adenosine deaminase 2 deficiency).

Clinical presentation :

-        livedo reticularis (persistent mottled discoloration of the skin, in the form of a cyanotic purplish meshwork) is widespread, branched, non-infiltrated, affecting the limbs but also the trunk or buttocks.

-        recurrent cerebrovascular accidents: transient ischemic attacks (TIAs), infarcts, often in the territory of the middle cerebral artery, with hemiparesis, aphasia and/or visual field disorders (average age 39, predominantly female). Atypical headaches and/or migraines often precede these accidents by several years.

-        sometimes: arterial thrombosis, deep-vein thrombosis (with or without pulmonary embolism), recurrent miscarriage

-        arterial hypertension and thickened heart valves visible on ultrasound are common.

-        memory impairment, personality changes and cognitive decline leading to dementia are common.

Screening for antiphospholipid antibodies is positive in 60 % of cases.

Treatment: antiplatelet agents (aspirin), angiotensin-converting enzyme inhibitors to reduce endothelial proliferation. Rituximab may be useful for patients positive for anti-phospholipid antibodies.

Anesthetic implications:

fragile cerebral circulation the autoregulation of which is unknown: avoid perioperative hyper- and hypotension, and monitor cerebral oxygenation.

References :

-        Starmans NLP, van Dijk MR, Kappelle LJ, Frijns CMJ.
Sneddon syndrome:  a comprehensive clinical review of 53 patients.
J Neurol 2021; 268:2450-7

Updated: June 2023