Hereditary angioedema (HAE), a genetic disorder inherited in an autosomal-dominant pattern, is characterized by severe swelling in the limbs, face, intestinal tract, and airways.1 In retrospective studies, researchers tracked down in church records from the 17th century what they believed to be the first documented cases of hereditary angioedema, describing “hereditary periodic edema” in a…
Hereditary angioedema (HAE) is a rare genetic condition that is inherited in an autosomal dominant pattern. It is defined by recurrent episodes of fluid accumulation outside blood vessels, resulting in the rapid swelling of tissues in the hands, feet, limbs, face, intestinal system, and airways.1,2 HAE is classified into 2 types: HAE with a deficiency…
Hereditary angioedema (HAE) is a rare genetic condition characterized by attacks of cutaneous and submucosal edema. These debilitating episodes typically affect the abdominal area, upper respiratory tract, and skin, and they have a significant impact on quality of life.1,2 In addition to preventing mortality, HAE management aims to reduce morbidity, providing patients with a better…
Multiple sclerosis (MS) is a neurological disorder characterized by the demyelination of the brain and spinal cord due to the immune system attacking the myelin, which surrounds and protects the nerve fibers. This demyelination impedes the conduction of signals between the brain and the body. Symptoms include muscle weakness, visual dysfunction, cognitive problems, lack of…
Multiple sclerosis (MS) is an autoimmune neurological disorder affecting the central nervous system that is characterized by progressive damage to myelin, a fatty coating surrounding the nerves. Myelin protects the nerves from damage and allows for faster communication between the brain and the rest of the body.1 Disruption of signal conduction between the brain and…
The term gastrointestinal stromal tumor (GIST) was coined in 1983 by Mazur and Clark when they studied the histological origins of these tumors, found in the interstitial cells of Cajal.1 The interstitial cells of Cajal are specialized pacemaker nerve cells of the sympathetic nervous system which drive the rhythmic, peristaltic activity of the intestinal smooth…
Systemic mastocytosis is a rare hematological disease characterized by the overproliferation of mast cells, white blood cells that originate in the bone marrow, throughout the connective tissues of multiple organ systems, including the liver, spleen, bones, lymph nodes, lungs, and digestive system.1 Mast cells are activated by environmental triggers, including insect stings, animal bites, temperature…
The life expectancy of patients with systemic mastocytosis (SM), when regarded as a group, is shorter than that of the general population, with most deaths occurring within the first 3 to 5 years after diagnosis.1 In the updated 2016 World Health Organization (WHO) classification, SM is classified into 5 subtypes: indolent SM (ISM), smoldering SM…
Systemic mastocytosis is a rare hematological disease impacting the immune system that is characterized by the overproliferation of mast cells, a type of white blood cell produced in the bone marrow. Mast cells accumulate in organs and tissues, including the skin, bones, joints, liver, nerves, digestive tract, and lungs.1 Mast cells are granulocytes containing various…
Systemic mastocytosis (SM) is a rare disease in which mast cells accumulate in the skin, bone marrow, and organs such as the spleen and liver.1,2 The 4 main types of SM are characterized by different features and range from an indolent form (indolent SM) to more aggressive types, such as SM with an associated non-mast…
