Achenbach's Syndrome Revisited: The Paroxysmal Finger Hematoma May Have a Genetic Link

Achenbach's syndrome describes the sudden occurrence of bruising, pain and swelling of one or more digits of the hand involving the volar aspect of the proximal and middle phalanges. Also known as the paroxysmal finger hematoma, it presents in dramatic fashion, sometimes with a prodrome of tingling, itching or numbness but despite its dramatic presentation, all investigations are normal. Routine blood investigations, as well as coagulation and thrombophilia screens are all negative as are vascular imaging and echocardiography. The diagnosis is solely clinical. Due to the nature of its presentation, almost all patients are referred for an urgent vascular consultation but the condition resolves spontaneously usually within 2-3 days, although the discoloration may persist for longer. Its appearance usually leads clinicians to start anticoagulation in the belief that it may progress but, in fact, it settles as quickly as it appears. Though there are episodic cases which recur years later, it is generally self-resolving with no complications nor residual morbidity. Although the etiology was previously unknown, there is now a recognized genetic link. Genes related to the acute phase reactive proteins and the coagulation and complement cascades appear to be linked to Achenbach's syndrome. This evidence may explain why only certain individuals seem prone to this acutely painful, bruising disorder. We review this interesting disorder and compare patients from the tropical Caribbean region with similar cases from the temperate United Kingdom and discuss whether there are climatic variations in presentations.