Inherited thrombotic thrombocytopenic purpura mimicking immune thrombocytopenic purpura during pregnancy: a case report

Abstract

BackgroundThrombotic thrombocytopenic purpura is a very rare hereditary blood deficiency disorder of ADAMTS13 (von Willebrand factor-cleaving protease) and a life-threatening thrombotic microangiopathy characterized by thrombocytopenia and microangiopathic hemolytic anemia. The deficiency in ADAMTS13 metalloprotease, which cleaves the von Willebrand factor, may be congenital or acquired. The congenital form is caused by inherited mutations in the ADAMTS13 gene. The diagnosis is challenging due to the nonspecific signs and symptoms, as well as the rarity of the disease.Case presentationWe present an unusual case of a 20-year-old feoderm woman from northeast region of Brazil who manifested thrombocytopenia during her pregnancy which was believed to be immune thrombocytopenic purpura.ConclusionsConsidering the importance of a differential diagnosis of thrombotic microangiopathic disorders, congenital thrombotic thrombocytopenic purpura may mimic the signs and symptoms of pre-eclampsia/eclampsia, hemolysis with elevated liver enzymes and low platelet count syndrome, and atypical hemolytic-uremic syndrome. It should be considered in suspect cases in patients with an ADAMTS13 activity at 5% without ADAMTS13 antibodies.

Chiluria in a lymphatic filariasis endemic area

“…Hydrocele and lymphedema are the main clinical manifestations, whereas chyluria is a less common presentation [24] that manifests itself through milky-color urine associated with flank pain, similar to ureteric cramps [25] and may be triggered by meals with high lipid contents. More severe cases may result in malnutrition, hypoproteinemia, immune dysfunction and hypercoagulability states [26, 27]. Chyluria may present an unpredictable clinical course, including spontaneous remission in up to half of the individuals [28].…”

Atypical Hemolytic Uremic Syndrome During Pregnancy: Short Review and Case Report with a Favorable Outcome

“…Life-threatening complications of TMA include acute renal failure (ARF), brain injury (coma), gastrointestinal tract injury (hemorrhage), and heart failure (acute heart failure). Predisposing factors of TMA are preeclampsia, premature birth, caesarean section, infection, psycho-traumatic situations [3,4].…”

“…Diagnosing and treatment of various variants of TMA in pregnant women involves considerable difficulties. That is why, needless to say that colleagues wish to share their experience on each medical case with both favorable [4,5] and unfavorable outcomes [6].…”

The first reported case of factor V Leiden mutation with agenesis of superior vena cava

“…This congenital anomaly suggests that hypercoagulable state created results of physiologic stress. [11]…”