Health and Fitness

Systemic Sclerosis (Scleroderma) Overview Systemic sclerosis (SS) is an autoimmune disorder that causes atypical growth of connective tissues. Connective tissue gives your tissues (organs and muscles) strength and shape. With SS, your tissue becomes thick and stiff, leading to swelling and pain. It also causes changes to the texture and appearance of your skin due to increased collagen production. Collagen is a component of connective tissue and hardens with this disease. SS causes an immune response that destroys healthy tissue as an autoimmune disease because your body’s immune system mistakenly thinks your tissue is a foreign substance or infection. You then see fibrosis or scar tissue, also described as connective tissue growth, in response to a perceived injury or damage. Additionally, SS changes the texture and appearance of skin due to increased collagen production. But the disorder isn’t confined to skin changes. It can affect your: blood vessels muscles heart digestive system ...

WHIM Syndrome Overview WHIM syndrome is a rare primary immunodeficiency disorder, which is a disorder in which the body’s immune system does not function properly. WHIM is an acronym for some of the characteristic symptoms of the disorder – (w)arts, (h)hypogammaglobulinemia, (i)infections and (m)myelopathies. Individuals with WHIM syndrome are more susceptible to potentially life-threatening bacterial infections. To a lesser extent, they are also predisposed to viral infections. Affected individuals are particularly susceptible to human papillomavirus (HPV), which can cause skin and genital warts and potentially lead to cancer. Affected individuals have extremely low levels of certain white blood cells (neutrophils) leading to a condition called neutropenia. In most patients, WHIM syndrome is caused by changes (variants) in the CXCR4 gene and inherited in an autosomal dominant pattern. Symptoms The symptoms of WHIM syndrome can vary greatly from one individual to another. Some individu...

FOXG1 syndrome Overview FOXG1 syndrome is a rare neurodevelopmental condition caused by pathogenic variants in the FOXG1 gene. The disorder can cause a wide range of symptoms with varying severity. The most common symptoms include epilepsy, movement disorders and neurodevelopmental impairment that affects cognitive, motor, speech and visual function. FOXG1 syndrome is a neurological and developmental disorder that affects boys and girls. Symptoms of FOXG1 syndrome usually begin in infancy, often in the second month of life. Irritability occurs first, with repeated seizures (epilepsy) occurring later. These seizures are typically difficult to treat with medications. Children with FOXG1 syndrome may have a special type of epilepsy called spasms. They also have delayed development, intellectual disability, and trouble walking and sitting. Many patients have difficulty seeing, a condition called cortical visual impairment. Patients with FOXG1 syndrome usually have an abnormal MRI scan of t...

Erythromelalgia Overview Erythromelalgia (ur-i-thruh-muh-lal-jah) is a rare condition in which excess blood flow causes periodic symptom flares. It’s a chronic condition, meaning that it stays with you for life. Erythromelalgia symptoms, which often include burning pain, worsen over time. Erythromelalgia typically affects your feet but can also occur on your: Arms. Face. Hands. Legs. Different types of erythromelalgia There are several types, including: Primary erythromelalgia is isolated and not due to an underlying disease. Idiopathic erythromelalgia is the most common type and occurs for unknown reasons. Inherited erythromelalgia is due to gene mutations. The mutations, which affect pain signals, can be passed down in families. Secondary erythromelalgia occurs when there is an underlying blood, neurological or immunologic condition. These include: Autoimmune diseases, such as lupus and multiple sclerosis. Essential thrombocythemia, a blood disorder that causes your body to produce t...

Eosinophilic esophagitis Overview Eosinophilic esophagitis (e-o-sin-o-FILL-ik uh-sof-uh-JIE-tis) is a chronic immune system disease. With this disease, a type of white blood cell, called an eosinophil, builds up in the lining of the tube that connects your mouth to your stomach. This tube is also called the esophagus. This buildup, which is a reaction to foods, allergens or acid reflux, can inflame or injure the esophageal tissue. Damaged esophageal tissue can lead to difficulty swallowing or cause food to get stuck when you swallow. Eosinophilic esophagitis has been identified only since the early '90s, but is now considered a major cause of digestive system illness. Research is ongoing and will likely lead to revisions in the diagnosis and treatment of eosinophilic esophagitis. Symptoms Signs and symptoms include: Adults: Difficulty swallowing, also called dysphagia Food getting stuck in the esophagus after swallowing, also known as impaction Chest pain that is often centrally lo...

Homocystinuria Overview Homocystinuria (HCU) is a rare genetic disorder that affects your body’s ability to process the amino acid homocysteine. With this disorder, a harmful buildup of homocysteine in your blood and pee (urine) can occur. This buildup can cause severe complications involving your eyes, skeletal system, central nervous system and vascular system. Amino acids are the building blocks of protein. Your body produces some homocysteine from another amino acid called methionine. Your body gets more methionine from the food you eat, particularly high-protein foods. Your body normally breaks down (metabolizes) methionine into homocysteine. With homocystinuria, your body lacks an enzyme that it needs to metabolize homocysteine properly and keep it within a normal range. Enzymes are proteins that help speed up the chemical reactions in your body. Symptoms The symptoms of homocystinuria vary based on which type you have. They typically develop during the first few years of life. B...

Immune-Mediated Necrotizing Myopathies Overview Immune-Mediated Necrotizing Myopathies (IMNM) can present in a very similar way to Polymyositis. In fact, until recently, most castes of IMNM were diagnosed as Polymyositis. However, in recent years, research has identified that in comparison to Polymyositis, those with IMNM can have: Certain autoantibodies, Opens in new tab in their blood (although some with IMNM do not have an IMNM-associated antibody and are categorized as such) Muscle biopsies with less muscle inflammation Muscle biopsies indicating increased muscle cell death (necrosis).  The muscle cell death (necrosis) causes weakness and fatigue. The typical age of onset for IMNM is between 30­–70 years of age but can occur in children. It is thought that IMNM represents approximately 10% of all the inflammatory myopathies where the cause is unknown Symptoms Some of the signs, symptoms and complications of Immune-Mediated Necrotizing Myopathies include: Symmetrical muscular we...