ABSTRACT
Protein C deficiency increases the risk of an individual to develop thromboembolism and its complications. Clinical presentation of the complication of thrombosis in an unusual site may becloud clinical judgment resulting in missed diagnosis. We present an unusual case of protein C deficiency presenting with symptoms referable to the gastrointestinal system. A 34-year-old male with recurrent abdominal discomfort and bloating, managed as a case of gastro-oesophageal reflux disease with poor clinical outcome. Physical examination was unremarkable. Upper gastrointestinal endoscopy showed varices. Abdominal ultrasound scan and CT scan of the abdomen revealed thrombus in the portal vein. Functional assays of protein C and S revealed reduce protein C activity at 65 % (70 - 140%). This case emphasizes the need for extensive investigations in patients with common, sometimes neglected abdominal symptom such as bloating. It has also contributed in expanding the differential diagnosis of bloating and manifestations of protein C deficiency.
Une carence en protéine C augmente le risque pour un individu de développer une thromboembolie et ses complications. La présentation clinique de la complication de la thrombose dans un site inhabituel peut brouiller le jugement clinique entraînant un diagnostic manqué. Nous présentons un cas inhabituel de carence en protéine C présentant des symptômes liés au système gastro-intestinal Un homme de 34 ans avec une gêne abdominale récurrente et des ballonnements, pris en charge comme un cas de reflux gastro-Åsophagien avec un mauvais résultat clinique. L'examen physique n'était pas remarquable. L'endoscopie gastro-intestinale haute a montré des varices. Une échographie abdominale et une tomodensitométrie de l'abdomen ont révélé un thrombus dans la veine porte. Les dosages fonctionnels des protéines C et S ont révélé une réduction de l'activité de la protéine C à 65% (70 à 140%). Ce cas souligne la nécessité d'investigations approfondies chez les patients présentant des symptômes abdominaux courants, parfois négligés, tels que des ballonnements. Il a également contribué à élargir le diagnostic différentiel des ballonnements et des manifestations de carence en protéine C.
Subject(s)
Liver Diseases , Protein C Deficiency , Thrombosis , Venous Thrombosis , Adult , Humans , Male , Portal Vein/diagnostic imaging , Protein C Deficiency/complications , Protein C Deficiency/diagnosis , Venous Thrombosis/diagnostic imaging , Venous Thrombosis/etiologyABSTRACT
Introduction: Hypereosinophilic syndrome (HES) is a rare disorder. It is defined as eosinophilia of greater than1.5x109 /L persisting for at least 6 months or death before 6 months without an identifiable cause and with eosinophil-mediated organ dysfunction. We present a rare case of hypereosinophilic syndrome with severe hypokalaemia in a Nigerian female patient. Case Presentation: A 43year old food vendor referred to the Haematology Department, University College Hospital, Ibadan on account of a 6-week history of cough productive of mucoid, brownish, foul smelling sputum with associated breathlessness, high grade intermittent fever, and intense pruritus. She had accompanying non-projectile,non-bloody vomiting of recently ingested meals. There was absolute eosinophilia of 83x109/L and bone marrow cytology revealed marked eosinophilia with blasts of less than 5%. She also had asymptomatic severe hypokalaemia (1.9mmol/l) likely due to vomiting and reduced dietary intake. The aetiology of the hypereosinophilia could not be ascertained.She was admitted and commenced on intranasal oxygen, Tabs Loratidine, intravenous hydration.The severe hypokalaemia was corrected with IV KCL over 48hours followed with the administration of slow K tablets 600mg tds. She also had tabs Hydroxyurea for cytoreduction and Allopurinol to prevent hyperuricaemia. She improved with the above line of management. Conclusion: This appears to be the first reported case of HES with asymptomatic severe hypokalaemia in the literature. Being a rare disorder it could easily have been missed without a review of the peripheral blood film and marrow aspirate. This finding suggests a possible relationship between hypereosinophilia and hypokalemia which needs to be explored.
