Rare Diseases Symptoms Automatic Extraction

[Severe upper abdominal pain during a long distance flight].

[alpha-thalassemia]

A 43-year-old woman of Ghanaian origin presented with severe upper abdominal pain starting on a long distance flight. Physical examination revealed tenderness on palpation in the left upper abdomen and flank. There was no report of pre-existing conditions or permanent medication in the medical history.Laboratory tests showed signs of haemolytic anemia and elevated inflammatory parameters. The "thick blood smear" was normal. Ultrasonography revealed an enlarged spleen (14×5 cm) with inhomogeneous parenchyma and vast, diffusely spread hypoechoic lesions in perihilar location, interpreted as extended splenic infarction. Symptom onset on a long distance flight, haemolytic anemia and extended splenic infarction led to the assumption of a vasoocclusive crisis with haemolysis. Moleculargenetic tests proved the presence of HbSC-sickle cell disease and heterozygous alpha-thalassemia.After infusion of crystalloid solution the patient was asymptomatic further on. Due to splenic infarction she received prophylactic treatment with Cefuroxim. A vaccination against pneumococci, meningococci and Haemophilus influenza B was recommended.Mild hypoxia and dehydration on a long distance flight can trigger a sickle cell crisis and may contribute to late clinical manifestation and diagnosis of sickle cell disease in some cases. Patients suffering from HbSC-sickle cell disease are at risk for the same life-threatening complications as patients with HbSS-sickle cell disease. HbSC-sickle cell disease should not be considered as a mild form of HbSS-sickle cell disease but as a separate disease with specific clinical manifestations. In contrast-enhanced ultrasonography, splenic infarction due to sickle cell crisis may markedly differ from "typical" arterial thromboembolic infarction.

Diseases presenting "anemia" symptom

  • 22q11.2 deletion syndrome
  • alpha-thalassemia
  • canavan disease
  • child syndrome
  • coats disease
  • congenital toxoplasmosis
  • cowden syndrome
  • cutaneous mastocytosis
  • cystinuria
  • dedifferentiated liposarcoma
  • dracunculiasis
  • erythropoietic protoporphyria
  • esophageal adenocarcinoma
  • hirschsprung disease
  • holt-oram syndrome
  • homocystinuria without methylmalonic aciduria
  • kallmann syndrome
  • kindler syndrome
  • lamellar ichthyosis
  • liposarcoma
  • omenn syndrome
  • scrub typhus
  • sneddon syndrome
  • typhoid
  • waldenström macroglobulinemia
  • werner syndrome
  • wiskott-aldrich syndrome

This symptom has already been validated