A Retrospective Literature Review of Erythromelalgia and Myelorpoliferative Disorders

Cutaneous manifestations of myeloproliferative disorders (MPD) herald an uncommon diagnostic clue preceding a diagnosis of Essential Thrombocytosis (ET) and Polycythemia Vera (PV). If left untreated, they may progress towards acrocyanosis and even peripheral gangrene. This clincal entity can present months to years prior to an official diagnosis of a MPD. These atypical skin finding in ET and PV are referred to as Erythromelalgia, characterized by red, congested distal extremities secondary to microvascular complications. The pathophysiology of this skin abnormality involves spontaneous activation and aggregation of hypersensitive thrombocythaemic platelets in the end-arterial microvasculature, involving the peripheral, cerebral, and coronary circulation of thrombocythemia patients. The microvascular disturbances are frequently preceded or followed by atypical transient neurologic, ocular or coronary ischemic events. Thus these atypical skin findings can signal potential limb ischemia and necrosis.

We performed an extensive retrospective case review of the entire Engish language medical literature. The first reported case of Erythromelalgia was in 1872 by Weir-Mitchell. By 1938, Smith and Allen advocated the use of acteylsalicyclic acid as they reported pronounced pain relief from the use of 0.65 grams, up to five times daily. In our search, the number of cases reporting signs and symptoms of Erythromelalgia specifically preceding ET or PV, number less than twenty. We wanted to determine from review of the literatue if treatment with aspirin at the time of diagnosis of Erythomelalgia led to improved outcome.

The overriding conclusion of our review was that aspirin induced prompt relief of painful symptoms and seemed to prevent thrombotic sequelae in this patient cohort. Clinicians need to consider the underlying presence of a myeloproliferative disorder in patients manifesting vasculopathy associated skin findings, as it may be the harbinger of potentially fatal ischemic events. Earlier diagnosis and treatment may lead to improved outcome.