Diagnosis & Disease Information

Doctor and woman discussing symptoms

Myelofibrosis Signs and Symptoms

Myelofibrosis (MF) is a rare hematologic cancer affecting hematopoietic stem cells in the bone marrow. It is characterized by extensive scar tissue accumulation in the bone marrow, resulting in problems with normal blood cell production, including red blood cells, platelets, and white blood cells.1,2  As normal blood cell production becomes increasingly affected, this leads to…

myelofibrosis risk factors

Myelofibrosis Risk Factors

Myelofibrosis (MF) is a rare myeloproliferative disorder of hematopoietic stem cells that is characterized by fibrotic scarring within the bone marrow.1 Genetic mutations in JAK2 (50%), CALR (20%), and MPL (10%) account for most cases of primary MF; however, the underlying cause of the genetic mutations within hematopoietic stem cells is unknown.1 Significant efforts to…

MF epidemiology

Myelofibrosis Life Expectancy

Myelofibrosis (MF) is a rare, chronic, aggressive hematologic malignancy that is classified as one of 3 classic myeloproliferative neoplasms, along with polycythemia vera (PV) and essential thrombocythemia (ET). MF is characterized by clonal proliferation of affected hematopoietic stem cells, bone marrow failure due to excessive fibrosis, anemia, significant splenomegaly, extramedullary hematopoiesis, constitutional symptoms, and leukoerythroblastosis.1…

Clinical trials

Myelofibrosis Clinical Trials

The treatment of myelofibrosis (MF) commonly relies on the use of Janus kinase (JAK) inhibitors such as Jakafi® (ruxolitinib), Inrebic® (fedratinib), and Vonjo™ (pacritinib), all of which are approved by regulatory agencies.1 With the aim of fulfilling unmet needs in the treatment of MF, such as the management of disease refractory to current therapies and…

Anemia is a clinical feature of myelofibrosis

Myelofibrosis Clinical Features

Myelofibrosis (MF) is a hematological disorder characterized by bone marrow fibrosis and extramedullary hematopoiesis (EMH).1,2 MF can develop on its own, as primary MF, or it can develop as a complication of other diseases, such as polycythemia vera (PV) or essential thrombocythemia (ET). These secondary cases are known as post-PV MF and post-ET MF.1  Myelofibrosis…

Doctor and woman discussing symptoms

ANCA-Associated Vasculitis Signs and Symptoms

Antineutrophil cytoplasmic antibody (ANCA)-associated vasculitis (AAV) is a group of 3 diseases: granulomatosis with polyangiitis (GPA), eosinophilic granulomatosis with polyangiitis (EGPA), and microscopic polyangiitis (MPA).1 The clinical features of AAV are closely related to its underlying pathophysiologic mechanisms. Inflammation of blood vessels is a hallmark feature, which can result in the disruption of vascular structures,…

risk factors of AAV

ANCA-Associated Vasculitis Risk Factors 

Antineutrophil cytoplasmic antibody (ANCA)-associated vasculitis (AAV) is a rare group of autoimmune hematological conditions defined by inflammation and the destruction of blood vessels throughout the body. These conditions included in AAV are: granulomatosis with polyangiitis (GPA), eosinophilic granulomatosis with polyangiitis (EGPA), and microscopic polyangiitis (MPA). Risk Factors for Granulomatosis With Polyangiitis The underlying cause of…

cardiovascular disease in AAV

ANCA-Associated Vasculitis Life Expectancy

Antineutrophil cytoplasmic antibody (ANCA)-associated vasculitis (AAV) is a heterogeneous group of rare autoimmune diseases in which ANCA target and activate neutrophils. These, in turn, attack the cells lining small blood vessels, causing inflammation and damage.1 Depending on which organ or system is affected, the symptoms of AAV can vary greatly. Clinical features include, but are…

Renal vasculitis

ANCA-Associated Vasculitis Clinical Features

Antineutrophil cytoplasmic antibody (ANCA)-associated vasculitis (AAV) comprises a group of rare autoimmune hematological conditions characterized by inflammation and the destruction of blood vessels throughout the body. These conditions include granulomatosis with polyangiitis (GPA), eosinophilic granulomatosis with polyangiitis (EGPA), and microscopic polyangiitis (MPA). Additional ANCA-associated disorders include renal-limited vasculitis and drug-induced vasculitis.1 The clinical manifestations vary,…

Friedreich ataxia with retained reflexes

Friedreich Ataxia With Retained Reflexes

Friedreich ataxia (FA), although rare, is the most commonly inherited ataxia causing progressive degeneration of the central and peripheral nervous system.1 Typically, the neurodegenerative condition occurs before the age of 25 years. Patients with typical early-onset FA present with ataxic gait, absence of lower extremity reflexes, extensor plantar response, and sensory neuropathy impacting vibration and…