Rare Diseases Symptoms Automatic Extraction

Protein Z deficiency in antiphospholipid-negative Sneddon's syndrome.

[sneddon syndrome]

Sneddon's syndrome is characterized by the association of ischemic cerebrovascular events and widespread livedo racemosa. The pathophysiology of Sneddon's syndrome remains elusive, but various prothrombotic abnormalities have been previously reported in this setting. Low levels of protein Z, a downregulator of coagulation, have been recently linked to an increased risk of arterial thrombosis. The purpose of this study was to investigate the levels of protein Z in a series of Sneddon's syndrome patients without circulating antiphospholipid antibodies in comparison with an age- and sex-matched control population.Twenty-six patients and 78 healthy controls had determination of their protein Z blood levels by an enzyme-linked immunoassay test. Patients' thrombotic and vascular risk factors, including tobacco smoking, arterial hypertension, oral contraceptive agents, dyslipidemia, factor V Leiden, and factor II mutation were recorded.Protein Z plasma levels were significantly lower in patients (mean 1.47 mg/L) than in controls (mean 1.93 mg/L) (P=0.02). Prevalence of protein Z deficiency (level <1 mg/L) was significantly higher (P=0.001) among patients (31%) than among controls (3.8%). Factor V Leiden and heavy smoking were observed in 4 and 7 patients, respectively.Sneddon's syndrome could be viewed as the peculiar clinical expression of various and sometimes associated coagulation abnormalities. Low levels of protein Z may account, at least partly, for the thrombotic events observed in Sneddon's syndrome and shed a new light on its pathophysiology. Clinical implications for protein Z deficiency in this setting deserve further investigations.

Diseases presenting "hypertension" symptom

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  • aniridia
  • aromatase deficiency
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  • cohen syndrome
  • congenital adrenal hyperplasia
  • congenital diaphragmatic hernia
  • cushing syndrome
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  • erdheim-chester disease
  • erythropoietic protoporphyria
  • esophageal adenocarcinoma
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  • familial hypocalciuric hypercalcemia
  • gm1 gangliosidosis
  • heparin-induced thrombocytopenia
  • hereditary cerebral hemorrhage with amyloidosis
  • holt-oram syndrome
  • homocystinuria without methylmalonic aciduria
  • hydrocephalus with stenosis of the aqueduct of sylvius
  • inclusion body myositis
  • kallmann syndrome
  • kindler syndrome
  • lamellar ichthyosis
  • lymphangioleiomyomatosis
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  • primary effusion lymphoma
  • scrub typhus
  • severe combined immunodeficiency
  • sneddon syndrome
  • typhoid
  • von hippel-lindau disease
  • well-differentiated liposarcoma
  • werner syndrome
  • x-linked adrenoleukodystrophy
  • zellweger syndrome

This symptom has already been validated