Diseases

Chronic Granulomatous Disease

CGD is a rare disease. There are about 20 people born with CGD each year in the United States.

People with CGD have an immune system that doesn’t work properly. A healthy immune system usually prevents infections from becoming serious. An immune system with CGD can typically stop viral infections like a cold or flu, but can’t stop serious infections started by certain bacteria and fungi. Since CGD is a chronic condition, it means that a person will have the disease for all of his or her life.

CGD isn’t something you can catch. It’s a genetic condition, which means you’re born with it. It’s passed down to a child from 1 or both parents who can be “carriers.” A carrier doesn’t have the disease, but his or her children can end up with it. Carriers of CGD have 1 normal copy of the gene and 1 copy of the gene that doesn’t work right. There are 2 types of CGD: X-linked and autosomal recessive.

X-linked CGD

The most common form of CGD is X-linked. It’s passed down from the mother because she carries a faulty X chromosome. This means she is a carrier of CGD. Usually only males get X-linked CGD. A male born to a carrier mother has a 50% chance of having CGD.

Chronic hiccup

A hiccup is an involuntary spasmodic contraction of the muscle at the base of the lungs (diaphragm) followed by the rapid closure of the vocal cords. Usually, hiccups last for a few hours or, occasionally, a day or two. However, chronic hiccups are ones that continue for an extended period of time.

Chronic inflammatory demyelinating polyneuropathy

Chronic inflammatory demyelinating polyneuropathy is an acquired immune-mediated inflammatory disorder of the peripheral nervous system. CIDP is a neurological disorder that causes progressive weakness and impaired sensory function in the legs and arms. The disorder is sometimes called chronic relapsing polyneuropathy (CRP) or chronic inflammatory demyelinating polyradiculoneuropathy (because it involves the nerve roots). CIDP is closely related to Guillain-Barré syndrome and it is considered the chronic counterpart of that acute disease. Its symptoms are also similar to progressive inflammatory neuropathy. An asymmetrical variant of CIDP is known as Lewis Sumner-Syndrome. Treatment may include corticosteroids, immunosuppressant drugs, plasma exchange, physiotherapy, and/or intravenous immunoglobulin (IVIG) therapy.

Chronic lymphocytic leukemia

Chronic lymphocytic leukemia (CLL) is a cancer of the lymphocytes that begins in the stem cells of the bone marrow and then invades the blood. The term "chronic" in chronic lymphocytic leukemia comes from the fact that it typically progresses more slowly than other types of leukemia. The term "lymphocytic" refer to the cells affected by the disease — a group of white blood cells called lymphocytes, which help your body fight infection. Overtime, CLL may also spread to the lymph nodes and other organs including the liver, spleen and lungs. It occurs when the stem cells that make lymphocytes become out of control and produce increasing amounts of abnormal lymphocytes (also called leukemic cells). Eventually, these abnormal cells replace normal lymphocytes and can crowd out other types of normal blood cells, leading to the features of the condition. CLL most commonly affects adults over age 45. There are treatments to help control the disease.

Chronic myeloid leukemia

Chronic myelogenous (myeloid)  leukemia (CML) is an uncommon type of cancer of the blood cells. The term "chronic" in chronic myelogenous leukemia indicates that this cancer tends to progress more slowly than acute forms of leukemia. The term "myelogenous" refers to the type of cells affected by this cancer. Chronic myelogenous leukemia typically affects older adults and rarely occurs in children, though it can occur at any age.

The phase of chronic myelogenous leukemia refers to the aggressiveness of the disease.  A higher proportion of diseased cells means chronic myelogenous leukemia is at a more advanced stage.

Phases of chronic myelogenous leukemia include:

  • Chronic. The chronic phase is the earliest phase and generally has the best response to treatment
  • Accelerated. The accelerated phase is a transitional phase when the disease becomes more aggressive
  • Blastic. Blastic phase is a severe, aggressive phase that becomes life-threatening

chronic myelomonocytic leukemia

Chronic myelomonocytic leukemia (CMML) is cancer of the blood. CMML is considered to be one of the myeloproliferative neoplasms (MPNs), a type of chronic blood cancer in which a person’s bone marrow does not make blood effectively.

Chronic necrotizing vasculitis

Inflammation and destruction of blood vessel walls which leads to death of associated tissue. Symptoms are determined by the extent and location of the blood vessel inflammation. The inflammation possibly has autoimmune origins. It can occur in condition such as rheumatoid arthritis, systemic lupus erythematosus and scleroderma.

Chronic neutropenia

A blood disorder characterized by a reduced number of neutrophils (type of white blood cell) which affects the body's ability to fight infection.

Chronic neutrophilic leukemia

Chronic neutrophilic leukemia (CNL) is a rare myeloproliferative disorder that features a persistent neutrophilia in peripheral blood, myeloid hyperplasia in bone marrow, hepatosplenomegaly, and the absence of the Philadelphia chromosome or a BCR/ABL fusion gene.

Chronic Obstructive Pulmonary Disease

Chronic obstructive pulmonary disease (COPD) is a chronic inflammatory lung disease that causes obstructed airflow from the lungs. Symptoms include breathing difficulty, cough, mucus (sputum) production and wheezing. It’s typically caused by long-term exposure to irritating gases or particulate matter, most often from cigarette smoke. People with COPD are at increased risk of developing heart disease, lung cancer and a variety of other conditions.

Emphysema and chronic bronchitis are the two most common conditions that contribute to COPD. These two conditions usually occur together and can vary in severity among individuals with COPD.

Chronic bronchitis is inflammation of the lining of the bronchial tubes, which carry air to and from the air sacs (alveoli) of the lungs. It’s characterized by daily cough and mucus (sputum) production.

Emphysema is a condition in which the alveoli at the end of the smallest air passages (bronchioles) of the lungs are destroyed as a result of damaging exposure to cigarette smoke and other irritating gases and particulate matter.

Although COPD is a progressive disease that gets worse over time, COPD is treatable. With proper management, most people with COPD can achieve good symptom control and quality of life, as well as reduced risk of other associated conditions.

Chronic Pancreatitis

Chronic pancreatitis (CP) is a progressive inflammatory disease of the pancreas, characterized by irreversible morphologic changes and gradual fibrotic replacement of the gland. Loss of exocrine and endocrine function results from parenchymal fibrosis. The primary symptoms of CP are abdominal pain and maldigestion. Because of diagnostic and therapeutic challenges, an interdisciplinary management strategy is required.

Chronic recurrent multifocal osteomyelitis

Chronic recurrent multifocal osteomyelitis (CRMO) ("multifocal" because it can erupt in different sites, primarily bones; "osteomyelitis" because it is very similar to that disease but appears to be without any infection), is a rare condition (1:1,000,000), in which the bones have lesions, inflammation, and pain. Its definition is evolving. Many doctors and articles described CRMO as an autoimmune disease that has symptoms similar to osteomyelitis, but without the infection. Some doctors thought CRMO was related to SAPHO syndrome. Cutting edge research now classifies CRMO as an inherited autoinflammatory disease but have yet to isolate the exact gene responsible for it. Some specialists believe they have discovered a link between CRMO with a rare allele of marker D18S60, resulting in a haplotype relative risk (HRR) of 18. Other experts found that "mutations in LPIN2 cause a syndromic form of chronic recurrent multifocal osteomyelitis known as Majeed syndrome, while mutations in pstpip2 cause a murine form of the disorder. The roles played by LPIN2 and the human homolog of pstpip2, PSTPIP2, in the etiology of chronic recurrent multifocal osteomyelitis are uncertain but are currently being investigated." The professional theories seem to be moving in the direction of an inherited gene.

Chronic Traumatic Encephalopathy

Chronic traumatic encephalopathy (CTE) is a progressive and fatal brain disease associated with repeated traumatic brain injuries (TBIs), including concussions and repeated blows to the head. It is also associated with the development of dementia. Studies have shown that people who experience TBI in early to midlife are two to four times more at risk of developing dementia in late life. This risk appears to be much higher in people with several TBIs, although more research is needed to confirm this.

Chudley Rozdilsky syndrome

A very rare syndrome characterized mainly by mental retardation, muscle disease, short stature and endocrine defects.

Chudley-Mccullough syndrome

A rare inherited disorder characterized by hand, arm and heart abnormalities. Bone abnormalities usually affect the left arm more than the right and occasionally only one arm and/or hand is affected.

Churg-Strauss syndrome

Churg–Strauss syndrome (CSS) is an autoimmune condition that causes inflammation of small and medium-sized blood vessels (vasculitis) in persons with a history of airway allergic hypersensitivity (atopy). It usually manifests in three stages. The early (prodromal) stage is marked by airway inflammation; almost all patients experience asthma and/or allergic rhinitis. The second stage is characterized by abnormally high numbers of eosinophils (hypereosinophilia), which causes tissue damage, most commonly to the lungs and the digestive tract. The third stage consists of vasculitis, which can eventually lead to cell death and can be life-threatening.

Chylomicron retention disease

Chylomicron retention disease is characterized by fat malabsorption, hypocholesterolemia, normal fasting triglycerides, and marked intestinal steatosis despite the presence of both plasma and intestinal apoprotein B. The defect remains unknown but presumably involves the synthesis or secretion of chylomicrons.

Chylothorax- congenital

A rare disorder characterized by the presence of numerous small lung cysts at birthinfant born with lung cysts which severely affects breathing and blood pressure and generally results in infant death

Chylous ascites

A rare disorder involving obstruction of the drainage of the abdominal lymph glands which results in abdominal accumulation of milky white fluid

Cicatricial pemphigoid

Cicatricial pemphigoid (CP) refers to a group of rare chronic autoimmune blistering diseases that predominately affects the mucous membranes, including the conjunctiva, and occasionally the skin.

Ciguatera fish poisoning

Ciguatera is a form of human poisoning caused by the consumption of subtropical and tropical marine finfish which have accumulated naturally occurring toxins through their diet. The toxins are known to originate from several dinoflagellate (algae) species that are common to ciguatera endemic regions in the lower latitudes.

Ciliary dyskinesia- due to transposition of ciliary microtubules

A very rare disorder where the cilia fail to move adequately due to abnormal cilia structure. The cilia are tiny, hair-like structures found in the respiratory and ear passages and help to clear debris and mucus. This results in increases risk of respiratory infections, sinusitis, ear infections and male infertility. The infertility results as the tails of sperm is basically cilia

Citrulline transport defect

A rare metabolic disorder where citrulline is unable to be transported within the body which affects growth. In one case, a 19 year old had the height and weight of a 6 year old.