Diagnostic Challenges in a Case of Immune-Mediated Thrombotic Thrombocytopenic Purpura With Severe ADAMTS13 Deficiency

TL;DR

This paper discusses a rare case of TTP with severe ADAMTS13 deficiency and highlights the importance of accurate diagnosis for effective treatment.

Contribution

The paper emphasizes the diagnostic challenges and the need for ADAMTS13 testing in regions with limited medical resources.

Findings

A 23-year-old patient presented with TTP symptoms and acute kidney injury.

Enzymatic activity testing confirmed severe ADAMTS13 deficiency.

Honduras lacks advanced diagnostic tools, stressing the need for precision medical technology.

Abstract

Thrombotic Thrombocytopenic Purpura (TTP) is rare and potentially life-threatening thrombotic microangiopathy (TMA) caused by acquired immune-mediated or congenital deficiency of the von Willebrand factor regulatory enzyme, a Disintegrin And Metalloproteinase with a Thrombospondin Type 1 motif, member 13 (ADAMTS13) which cause microthrombi to form and occlude the microvasculature. The occurrence of acute kidney injury (AKI) in TTP is rare and often underestimated due to confusion with hemolytic uremic syndrome (HUS). A 23-year-old Mestizo male patient presented with altered mental status, hemolytic anemia, thrombocytopenia, intermittent fever, laboratory tests suggestive of thrombotic microangiopathy, and clinical findings consistent with acute kidney injury. Predictive values of the platelet count, lactate dehydrogenase, absent active cancer, schistocytes, mean corpuscular volume, international normalized ratio, creatinine (PLASMIC) score, were used to assess the likelihood of ADAMTS13 deficiency, were employed, and enzymatic activity testing confirmed severe protein deficiency. Honduras' lack of advanced diagnostic capabilities is underscored, emphasizing the urgent need to invest in precision medical technology. ADAMTS13 testing allows for a more precise diagnosis of TTP, which is crucial for early diagnosis and timely treatment.

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