Skip to main content

Posts

Showing posts from August, 2023

Ulcerative colitis

Ulcerative colitis Overview Ulcerative colitis (UL-sur-uh-tiv koe-LIE-tis) is an inflammatory bowel disease (IBD) that causes inflammation and ulcers (sores) in your digestive tract. Ulcerative colitis affects the innermost lining of your large intestine, also called the colon, and rectum. In most people, symptoms usually develop over time, rather than suddenly. Ulcerative colitis can be draining and can sometimes lead to life-threatening complications. While it has no known cure, there are several new treatments that can greatly reduce signs and symptoms of the disease and bring about long-term remission. Symptoms Ulcerative colitis symptoms can vary, depending on the severity of inflammation and where it occurs. Signs and symptoms may include: *Diarrhea, often with blood or pus *Rectal bleeding — passing small amount of blood with stool *Abdominal pain and cramping *Rectal pain *Urgency to defecate *Inability to defecate despite urgency *Weight loss *Fatigue *Fever *In children, fail...

Malignant Carcinoid Syndrome

  Malignant Carcinoid Syndrome Overview Carcinoid syndrome occurs when a rare cancerous tumor called a carcinoid tumor secretes certain chemicals into your bloodstream, causing a variety of signs and symptoms. A carcinoid tumor, which is a type of neuroendocrine tumor, occurs most often in the gastrointestinal tract or the lungs. Carcinoid syndrome typically occurs in people who have carcinoid tumors that are advanced. Treatment for carcinoid syndrome usually involves treating the cancer. However, because most carcinoid tumors don't cause carcinoid syndrome until they're advanced, a cure may not be possible. Medications may be recommended to relieve your carcinoid syndrome symptoms and make you more comfortable. Symptoms The signs and symptoms of carcinoid syndrome depend on which chemicals the carcinoid tumor secretes into your bloodstream. The most common signs and symptoms include: Skin flushing. The skin on your face and upper chest feels hot and changes color — ranging fro...

May-Hegglin Anomaly

 May-Hegglin Anomaly Disease Overview May-Hegglin Anomaly is a rare, inherited, blood platelet disorder characterized by abnormally large and misshapen platelets (giant platelets) and defects of the white blood cells known as leukocytes. The defect of the white blood cells consists of the presence of very small (2-5 micrometers) rods, known as Dohle bodies, in the fluid portion of the cell (cytoplasm). Some people with this disorder may have no symptoms while others may have various bleeding abnormalities. In mild cases, treatment for May-Hegglin Anomaly is not usually necessary. In more severe cases, transfusions of blood platelets may be necessary. In the past couple of years, it has become clear to physicians studying this disorder that May-Hegglin Anomaly is one of a family of five autosomal dominant, giant platelet disorders, each of which involves slight variants (alleles) of the same gene in the same location. The other giant platelet disorders related to May-Hegglin Anomaly...

Glanzmann Thrombasthenia

 Glanzmann Thrombasthenia Disease Overview Glanzmann thrombasthenia (GT) is a rare inherited blood clotting (coagulation) disorder characterized by the impaired function of specialized cells (platelets) that are essential for proper blood clotting. Symptoms of this disorder usually include abnormal bleeding, which may be severe. Prolonged untreated or unsuccessfully treated hemorrhaging associated with Glanzmann thrombasthenia may be life threatening. Signs & Symptoms The symptoms of Glanzmann thrombasthenia usually begin at birth or shortly thereafter and include the tendency to bruise and bleed easily and sometimes profusely, especially after surgical procedures. Other symptoms may include susceptibility to easy bruising, nosebleeds (epistaxis), bleeding from the gums (gingival), intermittent gastrointestinal bleeding and/or variably small or large red or purple-colored spots on the skin that are caused by bleeding in the skin (purpura). Women with GT often also have unusuall...

Kikuchi Disease

 Kikuchi Disease Disease Overview Kikuchi’s disease, also known as histiocytic necrotizing lymphadenopathy, is a rare, benign, (noncancerous, nonmalignant) disorder of the lymph nodes of young adults, predominantly of young women. This disorder is often mistaken for malignant lymphoma, especially cervical adenopathy because the symptoms are very similar. The lesions, or tissue anomalies, of this disorder cause the lymph nodes to become enlarged (lymphadenopathy), inflamed and painful. The exact cause of Kikuchi’s disease is not known. Perhaps the primary threat is a misdiagnosis of a malignant lymphoma. Signs & Symptoms Kikuchi’s disease is a rare nonmalignant disorder that affects the lymph nodes. Lymph nodes are present throughout the body as small oval structures that filter lymph fluid, fight infection and form white blood cells and blood plasma cells. In addition to swelling and pain in the abdomen the lymph nodes on the side of the neck and near the salivary glands are of...

Tuberculous Meningitis

 Tuberculous Meningitis Disease Overview Tuberculous Meningitis (TBM) is a form of meningitis characterized by inflammation of the membranes (meninges) around the brain or spinal cord and caused by a specific bacterium known as Mycobacterium tuberculosis. In TBM, the disorder develops gradually. Treatment with antibiotics and other drugs is usually effective against the infection. Signs & Symptoms Tuberculous Meningitis involves the central nervous system. Headaches and behavioral changes may be noticed initially. Fever, headache, a stiff neck, and vomiting may also occur. Symptoms among older children and adults may progress from irritability to confusion, drowsiness, and stupor, possibly leading to coma. Untreated, this disorder can lead to seizures, hydrocephalus (accumulation of fluid in the brain cavity), deafness, mental retardation, paralysis of one side of the body (hemiparesis) and other neurological abnormalities. (For more information on this disorder, choose “hydroc...

Schizoaffective Disorder

 Schizoaffective Disorder Overview Schizoaffective disorder is a mental health disorder that is marked by a combination of schizophrenia symptoms, such as hallucinations or delusions, and mood disorder symptoms, such as depression or mania. The two types of schizoaffective disorder — both of which include some symptoms of schizophrenia — are: *Bipolar type, which includes episodes of mania and sometimes major depression *Depressive type, which includes only major depressive episodes Schizoaffective disorder may run a unique course in each affected person. Untreated schizoaffective disorder may lead to problems functioning at work, at school and in social situations, causing loneliness and trouble holding down a job or attending school. People with schizoaffective disorder may need assistance and support with daily functioning. Treatment can help manage symptoms and improve quality of life. Symptoms Schizoaffective disorder symptoms may vary from person to person. People with the c...

Congenital Adrenal Hyperplasia

  Congenital Adrenal Hyperplasia Overview Congenital adrenal hyperplasia (CAH) refers to a group of genetic disorders that affect the adrenal glands, a pair of walnut-sized organs above the kidneys. The adrenal glands produce important hormones, including: *Cortisol, which regulates the body's response to illness or stress *Mineralocorticoids, such as aldosterone, which regulate sodium and potassium levels *Androgens, such as testosterone, which are male sex hormones required for growth and development in both males and females In people who have CAH, a gene change (mutation) results in a lack of one of the enzymes needed to make these hormones. The two major types of congenital adrenal hyperplasia are: *Classic CAH. This rarer, more-severe form is usually detected at birth or in early infancy. *Nonclassic CAH. This form is milder and more common. It may not be identified until childhood or early adulthood. Although there is no cure, with proper treatment, most people who have CAH....

Cerebrotendinous Xanthomatosis (CTX)

  Cerebrotendinous Xanthomatosis (CTX) Summary Cerebrotendinous xanthomatosis (CTX) is a rare autosomal recessive genetic disorder caused by an abnormality in the CYP27A1 gene, resulting in a deficiency of the mitochondrial enzyme sterol 27-hydroxylase. The lack of this enzyme prevents cholesterol from being converted into a bile acid called chenodeoxycholic acid. Deposits of cholesterol and a related compound called cholestanol accumulate in the nerve cells and membranes potentially causing damage to the brain, spinal cord, tendons, lens of the eye and arteries. Affected individuals can experience diarrhea and cataracts in childhood and may develop benign, fatty tumors (xanthomas) of the tendons during adolescence. If untreated, CTX can lead to progressive neurologic problems such as seizures, cognitive impairment, and difficulties with coordination and balance (ataxia). Coronary heart disease is common. Some individuals with the later-onset symptoms of CTX experienced cholestatic...