Archives: HCP Resource

types of ms

Multiple Sclerosis Types

Multiple sclerosis (MS) is an autoimmune disease affecting the brain and spinal cord, characterized by immune-mediated demyelination and axonal damage.1 Although there is uncertainty around disease prognosis and progression, the International Advisory Committee on Clinical Trials of MS defines 4 main disease courses in MS.2 These are: clinically isolated syndrome, relapsing-remitting multiple sclerosis, secondary progressive…

Alagille syndrome specialists

Specialists Who Treat Alagille Syndrome

Alagille syndrome is a rare genetic disease caused by mutations in the Jagged 1 (JAG1) or Notch 2 (NOTCH2) genes.1 This impairs the Notch signaling pathway and affects many organs and systems in the body. The symptoms of the condition vary greatly from one patient to another and even between affected members of the same…

Alagille syndrome symptoms

Alagille Syndrome Symptoms

Alagille syndrome (ALGS), also known as arteriohepatic dysplasia or Alagille-Watson Syndrome, can affect numerous systems of the body.1 It is caused by genetic mutations of the Jagged 1 (JAG1) or Notch 2 (NOTCH2) genes that affect the Notch signaling pathway, a highly conserved system important for embryonic development.2 Although the disease follows an autosomal dominant…

Alagille Syndrome Types

Alagille Syndrome Types

Alagille syndrome (ALGS) is a rare, autosomal dominant genetic disease characterized by a paucity of intrahepatic bile ducts.1 The disease is caused by mutations in the Jagged 1 (JAG1) or Notch 2 (NOTCH2) gene.2 Depending on which gene is affected, the condition is classified as ALGS1 or ALGS2.3 The Notch Signaling Pathway The Notch signaling…

Alagille syndrome Pathophysiology

Alagille Syndrome Pathophysiology

Alagille syndrome (ALGS) is a rare genetic disease possibly affecting multiple systems throughout the body, including the hepatic, cardiovascular, skeletal, and renal. The underlying cause of the disease has been linked to problems in the Notch signaling pathway found in numerous cells. Alagille Syndrome pathophysiology is characterized in part by a wide range in the…

LAL-D risk factors

Lysosomal Acid Lipase Deficiency Risk Factors

Lysosomal acid lipase deficiency (LAL-D) is an ultra-rare inherited pan-ethnic metabolic disorder caused by inborn genetic mutations in the LIPA gene that result in abnormal LAL enzymatic activity and subsequent widespread lysosomal accumulation of body lipids.1  LAL-D has a wide spectrum of clinical manifestations, which ranges from the fulminant infantile-onset Wolman disease (WD) to the…

Lysosomal Acid Lipase Deficiency Symptoms

Lysosomal Acid Lipase Deficiency Symptoms

Lysosomal acid lipase deficiency (LAL-D) is a life-threatening genetic metabolic disorder with a wide phenotypic spectrum, ranging from the severe, infantile-onset form known as Wolman disease (WD) to later-onset forms collectively known as cholesterol ester storage disease (CESD).1,2 It is triggered by abnormal mutations in the LIPA gene that lead to reduced or absent enzymatic…

pulmonary arteria hypertension symptoms

Pulmonary Arterial Hypertension Symptoms

Pulmonary arterial hypertension (PAH) signs and symptoms result from the restricted flow of oxygenated blood through the lungs to other parts of the body and the decreased ability of the heart to pump blood, which is caused by increased pulmonary resistance due to thickening and narrowing of the pulmonary arteries.1 Delayed Diagnosis of PAH In…

pulmonary arterial hypertension types

Pulmonary Arterial Hypertension Types

The 6th World Symposium on Pulmonary Hypertension (WSPH) in 2019 revised the classification of pulmonary arterial hypertension (PAH), called Group 1, to categorize it into 7 classes based on similar pathological mechanisms, causes, clinical signs and symptoms, hemodynamic features, and therapies. These classes are idiopathic PAH (IPAH), heritable PAH (HPAH), drug- and toxin-induced PAH, PAH…

idioathic pulmonary fibrosis symptoms

Idiopathic Pulmonary Fibrosis Symptoms

Idiopathic pulmonary fibrosis (IPF) is a rare, progressive lung disease that is often fatal. The median survival is estimated at 3-5 years after diagnosis.1 The disease is more common in middle-aged and elderly patients, with estimates of incidence varying between 6.8 and 93.7 cases per 100,000 people per year in North America.2 Patients typically experience…