Atypical Presentation of Thrombotic Thrombocytopenic Purpura without Hematological Features

Abstract

Thrombotic thrombocytopenic purpura (TTP) is a life-threatening disease, usually diagnosed with high index of suspicion. The pathophysiology of TTP is due to severe deficiency of von Willebrand factor cleaving protease, known as ADAMTS 13. Early diagnosis is crucial as without treatment TTP is associated with high mortality rate. Plasma exchange is currently the mainstay of treatment. Nonetheless, the classical pentad of microangiopathic hemolytic anemia (MAHA), thrombocytopenia, neurological dysfunction, kidney dysfunction and fever are seen only in 40 percent of the patients. MAHA and thrombocytopenia are the common presenting features. Presentation with thrombotic complication without hematological features (MAHA and thrombocytopenia) is rare and makes the diagnosis difficult. Herein, we report an unusual presentation of a 53-year-old male, who was initially presented in 2014 with classical features of TTP, however had an atypical presentation of TTP in 2016 with only neurological features without hematological features.

A Case of Thrombotic Thrombocytopenic Purpura without Pathognomonic Schistocytes

“…Subsequently a diagnosis of TTP was presumed when a patient presented with the dyad of MAHA and thrombocytopenia, based on the need to promptly treat such patients [ 11 ]. With the discovery that thrombosis of TTP is due to profound ADAMTS13 deficiency [ 11 ], it is increasingly recognized that a lack of MAHA and/or thrombocytopenia does not exclude the diagnosis of TTP, as has been described in various reports in the literature [ 3 , 4 , 5 , 6 , 7 , 8 , 9 ]. In 2002, O’Brien et al [ 3 ] reported two patients who presented with neurological deficits with roughly normal hematological findings.…”

“…Four more cases of TTP presenting with symptoms suggestive of macrovascular arterial involvement and minimal schistocytes were reported in 2012 [ 6 ]. In more recent years, several cases were reported [ 7 , 8 , 9 ] in which TTP either first presented or relapsed as CVA without clear signs of MAHA and/or thrombocytopenia. Notably, it has been almost seventeen years since publication of the earliest reports of such atypical presentations of TTP [ 3 , 4 ].…”

“…In particular, the presence of both thrombocytopenia and microangiopathic hemolytic anemia (MAHA) are regarded by many clinicians as cornerstones of TTP diagnosis. It is important to note, however, that these well-known features are not present in all cases of TTP; for example, it has been shown that schistocytes are not present or obvious in every case of TTP [ 3 , 4 , 5 , 6 , 7 , 8 , 9 ]. In addition, a lack of thrombocytopenia does not necessarily exclude diagnosis of TTP [ 4 , 5 ].…”

Uncommon Manifestation: Thrombotic Thrombocytopenic Purpura Presenting Solely as Petechial Rash

“…While it is not considered a typical manifestation of the disease, it is seen in many cases [4]. Such atypical manifestations necessitate heightened clinical vigilance to ensure prompt and accurate diagnosis, which is critical for initiating lifesaving interventions [5]. The mainstay of treatment for TTP is plasma exchange, which has significantly improved the prognosis of the disease by removing circulating autoantibodies and replenishing deficient ADAMTS13 [6].…”