Rare Diseases Symptoms Automatic Extraction

[A rare cause of muscle pain and elevated creatine kinase level--the paroxysmal non-hereditary angioedema].

[systemic capillary leak syndrome]

Systemic capillary leak syndrome is a rare idiopathic disorder characterized by recurrent episodes of hypotension and hemoconcentration due to sudden transient extravasation of up to 70% of plasma. Less than 40 cases have appeared in the literature. Mortality rates 5 years after diagnosis have been reported to be up to 75%. Clinical findings are generalized edema and intravasal fluid deficiency. Laboratory features include hypoalbuminemia and extreme hemoconcentration. A common finding is a monoclonal gammopathy. Rare manifestation of this syndrome is rhabdomyolysis due to increased compartment pressure and ischemic myonecrosis. Early diagnosis and exclusion of other clinical disorders like rheumatic myopathies and myositis are critical concerning prognosis and therapy. We describe a 46-year-old woman with rhabdomyolysis and systemic capillary leak syndrome whose condition is stable for a total of 30 months under a prophylactic regimen with oral terbutaline plus theophylline. A brief survey of the literature is given.

Diseases presenting "early diagnosis" symptom

  • achondroplasia
  • acute rheumatic fever
  • adrenal incidentaloma
  • adrenomyeloneuropathy
  • alexander disease
  • allergic bronchopulmonary aspergillosis
  • aromatase deficiency
  • carcinoma of the gallbladder
  • cholangiocarcinoma
  • classical phenylketonuria
  • coats disease
  • cohen syndrome
  • congenital adrenal hyperplasia
  • congenital diaphragmatic hernia
  • congenital toxoplasmosis
  • cowden syndrome
  • cushing syndrome
  • cutaneous mastocytosis
  • cystinuria
  • dentin dysplasia
  • dentinogenesis imperfecta
  • dracunculiasis
  • erdheim-chester disease
  • erythropoietic protoporphyria
  • esophageal carcinoma
  • esophageal squamous cell carcinoma
  • fabry disease
  • familial hypocalciuric hypercalcemia
  • familial mediterranean fever
  • gm1 gangliosidosis
  • hirschsprung disease
  • holt-oram syndrome
  • homocystinuria without methylmalonic aciduria
  • hydrocephalus with stenosis of the aqueduct of sylvius
  • inclusion body myositis
  • kabuki syndrome
  • kallmann syndrome
  • kindler syndrome
  • krabbe disease
  • locked-in syndrome
  • monosomy 21
  • neuralgic amyotrophy
  • oculocutaneous albinism
  • oligodontia
  • omenn syndrome
  • oral submucous fibrosis
  • papillon-lefèvre syndrome
  • phenylketonuria
  • primary effusion lymphoma
  • primary hyperoxaluria type 1
  • proteus syndrome
  • pyomyositis
  • pyruvate dehydrogenase deficiency
  • scrub typhus
  • severe combined immunodeficiency
  • sneddon syndrome
  • systemic capillary leak syndrome
  • thoracic outlet syndrome
  • triple a syndrome
  • typhoid
  • von hippel-lindau disease
  • wiskott-aldrich syndrome
  • wolf-hirschhorn syndrome

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