BUTMAC

What is TMA

Thrombotic microangiopathy (TMA) is a rare but very serious condition. It is characterized by widespread microthrombi formation in multiple organs (in its severe and disseminated form) or localized microthrombi in the kidney (in its limited form). TMA is usually characterized by thrombocytopenia, microangiopathic hemolytic anemia (MAHA), and multiple organ injury and dysfunction.

TMA is the common manifestation of multiple conditions. It could result from hereditary disorders (ADAMTS13 deficiency causing TTP, alternative complement pathway dysregulation, metabolic disorders, and DGKE mutations). It could also be acquired (auto-antibodies blocking ADAMTS13 causing TTP, auto-antibodies leading to the alternative complement pathway dysfunction, shigatoxin mediated HUS, or drug induced).

Early detection and accurate diagnosis are essential to implement appropriate therapies, and improve patients’ prognosis and survival. Delay in diagnosis could result in late implementation of appropriate therapies, and this could result in permanent and irreversible organ damage. Left untreated TMA is associated with very high level of morbidity and mortality. TMA presentation could be highly variable making the diagnosis even more difficult. Once the diagnosis of TMA is established, defining the underlying cause is even more challenging due to frequent overlap between the common causes of TMA.

We have a unique multidisciplinary approach to the management of this very rare disease. A TMA team was established at Boston University Medical Center with the primary objective of improving patients care and outcome.

A primary goal of the team is to provide excellent patient care. The TMA team is multidisciplinary involving: nephrologists, hematologists, the director of apheresis, pediatric hematologist and pharmacist. They are always available to manage any patient with suspected TMA. Special protocols and algorithm have been created by the team to help guiding the provider in making an accurate diagnosis of any TMA case.

Another goal of the TMA team is educational. We are actively spreading awareness of this rare disease between our providers at BMC, and also regionally and nationally by organizing lectures and seminars as well as mini-symposia.

A third goal of the TMA team is to advance basic and clinical research related to TMA. We are active in clinical trials addressing the efficacy of newer agents for the treatment of complement mediated HUS a special form of TMA. Our scientists are also trying to understand some underlying pathological mechanisms that could be contributing to TMA.

How to make a diagnosis?

We developed an algorithmic approach to the diagnosis of TMA. TMA is a common presentation to many conditions. The treatment essentially depends on the accurate diagnosis of the underlying cause. On your visit, we take a detailed history including both personal and familial. We perform a complete physical exam and request specific tests to help confirm the diagnosis of TMA and its underlying cause.
Please contact Dr. Jean Francis at Jean.Francis@bmc.org and Dr. Vipul Chitalia at Vipul.Chitalia@bmc.org for more information.