Challenges in the diagnosis of thrombotic thrombocytopenic purpura

ABSTRACT

Introduction

Immune-mediated TTP (iTTP) is a rare condition without pathognomonic signs and symptoms. For this reason, the diagnosis of iTTP may be delayed or even missed, with potentially catastrophic consequences.

Areas covered

The authors performed an extensive literature review on the diagnosis of iTTP and its challenges combined with their own experience in a referral center for patients with iTTP.

Expert opinion

Although a definitive diagnosis of iTTP depends on the ADAMTS13 activity result, timely testing is rarely available at many centers to which patients present. If less complex tests were to become available, they would decrease the chances of late and/or missed diagnoses of iTTP throughout the world. While clinical scores to estimate the likelihood of iTTP exist, they are not well known, and can be misleading if used in the wrong context. Furthermore, the three scoring systems (PLASMIC, Bentley, and French) only moderately correlate with each other, which further complicates the landscape. The existence of these scores and how they should be used in practice is but one opportunity that can be seized through more robust programs to educate nonspecialist clinicians on how to recognize and treat patients with iTTP.

KEYWORDS:

• Thrombotic thrombocytopenic purpura
• thrombotic microangiopathy
• TTP
• ADAMTS13
• TTP diagnosis
• PLASMIC score
• TTP scoring systems
• MAHA

Article highlights

• TTP is a life-threatening condition who presents with nonspecific signs and symptoms.

• Acquired TTP is auto-immune and often called iTTP.

• The diagnosis of iTTP is hampered by its rarity and lack of pathognomonic features.

• There are scoring systems to determine the likelihood of iTTP, but there is no good correlation between them.

• Confirmation of the diagnosis of iTTP depends on the ADAMTS13 activity assay.

Declaration of interest

The authors have no relevant affiliations or financial involvement with any organization or entity with a financial interest in or financial conflict with the subject matter or materials discussed in the manuscript. This includes employment, consultancies, honoraria, stock ownership or options, expert testimony, grants or patents received or pending, or royalties.

Reviewer disclosures

Peer reviewers on this manuscript have no relevant financial or other relationships to disclose.

Additional information

Funding

This paper was not funded.