RESUMO
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.
Assuntos
Dedos/irrigação sanguínea , Hematoma/etiologia , Diagnóstico Diferencial , Traumatismos dos Dedos/complicações , Hematoma/diagnóstico por imagem , Hematoma/genética , Hematoma/patologia , Humanos , Dor , Recidiva , SíndromeRESUMO
Inherited factor X deficiency (FXD) is a rare (1:1,000,000) recessive bleeding disorder. The clinical and laboratory phenotypes of FXD are poorly correlated and few regional studies on the genotype and the clinical manifestations of FXD are known. To understand the association between clinical manifestations and causative genotype, detailed evaluation of bleeding pattern in a high number of patients is needed. This international study analysed the phenotype and genotype of 102 subjects from Central Europe (Germany, Poland and Slovakia) and Latin America (Costa Rica and Venezuela) with causative mutations in the F10 gene, via sequencing. Twenty-eight homozygous, seven compound-heterozygous and 67 heterozygous FXD subjects were characterized. Twenty-nine different causative mutations, including 15 novel mutations, were analysed. Spontaneous bleeding symptoms in 42 symptomatic individuals (26 homozygous, seven compound heterozygous and nine heterozygous) comprised easy bruising (55%), haematoma (43%), epistaxis (36%), haemarthrosis (33%), intracranial haemorrhage (ICH; 21%), and gastrointestinal (GI) haemorrhage (12%). The manifestation of bleeding symptoms in 9 of 67 (13%) symptomatic heterozygous subjects is described. The bleeding patterns of the enrolled patients showed differences that are associated with the types of F10 mutation, and the corresponding genotypes. The homozygous patients were evaluated for genotype-phenotype correlation. The results suggested that ICH seems to be associated with the F10 mutation Gly380Arg, and possibly with the mutations IVS7-1G>A and Tyr163delAT. A tentative association of other mutations to severe symptoms such as haemarthrosis and GI haemorrhage is reported. The severity of FXD, the genotype-phenotype association, and the results of regional studies are discussed.