Adrenal gland cancer

Your adrenal, or suprarenal, glands are located on the top of each kidney. These glands produce hormones that you can't live without, including sex hormones and cortisol, which helps you respond to stress and has many other functions.

A number of disorders can affect the adrenal glands, including tumors. Tumors can be either benign or malignant. Benign tumors aren't cancer. Malignant ones are. Most adrenal gland tumors are benign. They usually do not cause symptoms and may not require treatment. Malignant adrenal gland cancers are uncommon.

Types of tumors include

• Adrenocortical carcinoma - cancer in the outer part of the gland
• Neuroblastoma, a type of childhood cancer
• Pheochromocytoma - a rare tumor that is usually benign

Symptoms depend on the type of cancer you have. Treatments may include surgery, chemotherapy, or radiation therapy.

Neuroblastoma

Source: Dr Dominique VALTEAU-COUANET MD. Orphanet

Neuroblastoma is a malignant tumor of neural crest cells, the cells that give rise to the sympathetic nervous system, which is observed in children.

Catecholamine-producing tumors

Source:  Pr Anne-Paule GIMENEZ-ROQUEPLO MD; Pr Pierre-François PLOUIN MD. Orphanet

Catecholamine-producing tumors may arise in the adrenal gland (pheochromocytomas) or in extraadrenal chromaffin cells (secreting paragangliomas).

Abdominal adhesions

Source: National Digestive Diseases Information Clearinghouse

Abdominal adhesions are bands of fibrous tissue that can form between abdominal tissues and organs. Normally, internal tissues and organs have slippery surfaces, preventing them from sticking together as the body moves. However, abdominal adhesions cause tissues and organs in the abdominal cavity to stick together.

Adhesions

Adhesions are also called: Abdominal adhesions

Adhesions are bands of scar-like tissue. Normally, internal tissues and organs have slippery surfaces so they can shift easily as the body moves. Adhesions cause tissues and organs to stick together. They might connect the loops of the intestines to each other, to nearby organs, or to the wall of the abdomen. They can pull sections of the intestines out of place. This may block food from passing through the intestine.

Adhesions can occur anywhere in the body. But they often form after surgery on the abdomen. Almost everyone who has surgery on the abdomen gets adhesions. Some adhesions don't cause any problems. But when they partly or completely block the intestines, they cause symptoms such as

• Severe abdominal pain or cramping
• Vomiting
• Bloating
• An inability to pass gas
• Constipation

Adhesions can sometimes cause infertility in women by preventing fertilized eggs from reaching the uterus.

No tests are available to detect adhesions. Doctors usually find them during surgery to diagnose other problems.

Some adhesions go away by themselves. If they partly block your intestines, a diet low in fiber can allow food to move easily through the affected area. If you have a complete intestinal obstruction, it is life threatening. You should get immediate medical attention and may need surgery.

More about abdominal adhesions

Addison disease

Addison disease is also called: Adrenal insufficiency, Adrenocortical hypofunction, Hypocortisolism

Your adrenal glands are just above your kidneys. The outside layer of these glands makes hormones that help your body respond to stress and regulate your blood pressure and water and salt balance. Addison disease happens if the adrenal glands don't make enough of these hormones.

A problem with your immune system usually causes Addison disease. The immune system mistakenly attacks your own tissues, damaging your adrenal glands. Other causes include infections and cancer.

Symptoms include

• Weight loss
• Muscle weakness
• Fatigue that gets worse over time
• Low blood pressure
• Patchy or dark skin

Lab tests can confirm that you have Addison disease. If you don't treat it, it can be fatal. You will need to take hormone pills for the rest of your life. If you have Addison disease, you should carry an emergency ID. It should say that you have the disease, list your medicines and say how much you need in an emergency.

More about Addison disease

Chronic Myeloid Leukemia

Also called: CML, Chronic granulocytic leukemia, Chronic myelogenous leukemia

Leukemia is cancer of the white blood cells. White blood cells help your body fight infection. Your blood cells form in your bone marrow. In leukemia, the bone marrow produces abnormal white blood cells. These cells crowd out the healthy blood cells, making it hard for blood to do its work. In chronic myeloid leukemia (CML), there are too many granulocytes, a type of white blood cell.

Most people with CML have a gene mutation (change) called the Philadelphia chromosome.

Sometimes CML does not cause any symptoms. If you have symptoms, they may include:

• Fatigue
• Weight loss
• Night sweats
• Fever
• Pain or a feeling of fullness below the ribs on the left side

Tests that examine the blood and bone marrow diagnose CML. Treatments include chemotherapy, stem cell transplants, infusion of donated white blood cells following stem cell transplants, surgery to remove the spleen, and biologic and targeted therapies. Biologic therapy boosts your body's own ability to fight cancer. Targeted therapy uses substances that attack cancer cells without harming normal cells.

More about Chronic Myeloid Leukemia

Chronic Lymphocytic Leukemia

Also called: CLL

Leukemia is cancer of the white blood cells. White blood cells help your body fight infection. Your blood cells form in your bone marrow. In leukemia, the bone marrow produces abnormal white blood cells. These cells crowd out the healthy blood cells, making it hard for blood to do its work. In chronic lymphocytic leukemia (CLL), there are too many lymphocytes, a type of white blood cell.

CLL is the second most common type of leukemia in adults. It often occurs during or after middle age, and is rare in children.

Usually CLL does not cause any symptoms. If you have symptoms, they may include

• Painless swelling of the lymph nodes in the neck, underarm, stomach, or groin
• Fatigue
• Pain or a feeling of fullness below the ribs
• Fever and infection
• Weight loss

Tests that examine the blood, bone marrow, and lymph nodes diagnose CLL. Your doctor may choose to just monitor you until symptoms appear or change. Treatments include radiation therapy, chemotherapy, surgery to remove the spleen, and targeted therapy. Targeted therapy uses substances that attack cancer cells without harming normal cells.

More about Chronic Lymphocytic Leukemia

Chronic Lymphocytic Leukemia

Author: Dr Frederick Appelbaum Fred Hutchinson Cancer Research Center Seattle 2008-07-28

Chronic Lymphocytic Leukemia (CLL) is among the most common forms of leukemia, with approximately 10,200 new cases diagnosed in the United States in 2006. The incidence of CLL increases with age and the disease is uncommon in patients less than age 50.

Chronic Myeloid Leukemia

Author: Dr Frederick Appelbaum Fred Hutchinson Cancer Research Center Seattle 2008-07-28

Chronic myeloid (or myelogenous) leukemia developed in approximately 4500 Americans in 2006.  Although it is sometimes seen in childhood, the incidence of the disease increases with age and the median age of diagnosis is around 60 years.

Acute Promyelocytic Leukemia

Author: Dr Frederick Appelbaum Fred Hutchinson Cancer Research Center Seattle 2008-07-28

Acute Promyelocytic Leukemia (APL) is a distinct subtype of AML accounting for about 8% of cases.  Patients with APL tend to be younger on average than other AML patients and are more often Hispanic. At the time of diagnosis, patients virtually always present with some evidence of a coagulation disorder, with easy bruising, petechiae or overt bleeding.  A unique chromosomal translocation, t(15;17), is found in virtually every case of APL. Because of its unique clinical characteristics and response to specific agents, APL is treated differently from all other forms of leukemia.

Acute Lymphocytic Leukemia

Author: Dr Frederick Appelbaum Fred Hutchinson Cancer Research Center Seattle 2008-07-28

Acute Lymphocytic Leukemia (ALL) 

ALL is less common than AML, occurring in an estimated 4000 persons in the United States in 2006.  It is the most common form of leukemia in childhood, following which the incidence drops until the age of 45, when the incidence begins to increase.  Like AML, ALL is rapidly fatal if untreated. With appropriate treatment, most children with ALL can be cured of their disease.

Respiratory failure

Respiratory failure happens when not enough oxygen passes from your lungs into your blood. Your body's organs, such as your heart and brain, need oxygen-rich blood to work well. Respiratory failure also can happen if your lungs can't remove carbon dioxide (a waste gas) from your blood. Too much carbon dioxide in your blood can harm your body's organs.

Diseases and conditions that affect your breathing can cause respiratory failure. Examples include

• Lung diseases such as COPD (chronic obstructive pulmonary disease), pneumonia, pulmonary embolism, and cystic fibrosis
• Conditions that affect the nerves and muscles that control breathing, such as spinal cord injuries, muscular dystrophy and stroke
• Damage to the tissues and ribs around the lungs. An injury to the chest can cause this damage.
• Drug or alcohol overdose
• Injuries from inhaling smoke or harmful fumes

Treatment for respiratory failure depends on whether the condition is acute (short-term) or chronic (ongoing) and how severe it is. It also depends on the underlying cause. You may receive oxygen therapy and other treatment to help you breathe.

Periodontitis

Periodontitis is a chronic and long-lasting low-grade inflammatory disease that leads to a break-down of the connective tissue and bone that anchors the teeth to the jaws .
Periodontitis can cause tooth loss.
It can also increased risk of heart attack or stroke and other serious health problems.  Periodontitis is largely preventable. It is usually the result of poor oral hygiene. Brushing at least twice a day, flossing daily and getting regular dental checkups can greatly reduce the risk of developping periodontitis.

Boerhaave's syndrome

Spontaneous perforation of the oesophagus after forceful vomiting is also known as Boerhaave's syndrome. Many patients present with atypical symptoms like shock or respiratory distress, and findings on physical exam are often non-specific, with tachycardia, tachypnea or fever.

Metabolic syndrome

Metabolic syndrome (MetS) means the presence of multiple risk factors for cardiovascular disease (stroke, hypertension,coronary artery disease...). The report from the american National Cholesterol Education Program’s Adult Treatment Panel III (ATP III) identified 6 components of metabolic syndrome that are related to Cardio Vascular Disease: abdominal obesity, atherogenic dyslipidemia (high triglyceride, high cholesterol), raised blood pressure, insulin resistance (diabetes), glucose intolerance (diabetes), a pro-inflammatory state and a prothrombotic state. MetS increases the risks of atherosclerosis and cardiovascular disease. Some studies have also suggested that it may be related to some gastrointestinal tract diseases, such as fatty liver, nonalcoholic steatohepatitis, and unexplained liver cirrhosis

Pancreatitis

The pancreas is a large gland behind the stomach and close to the first part of the small intestine. It secretes digestive juices into the small intestine through a tube called the pancreatic duct. The pancreas also releases the hormones insulin and glucagon into the bloodstream.

Pancreatitis is inflammation of the pancreas. It happens when digestive enzymes start digesting the pancreas itself. Pancreatitis can be acute or chronic. Either form is serious and can lead to complications.

Acute pancreatitis occurs suddenly and usually goes away in a few days with treatment. It is often caused by gallstones. Common symptoms are severe pain in the upper abdomen, nausea, and vomiting. Treatment is usually a few days in the hospital for intravenous (IV) fluids, antibiotics, and medicines to relieve pain.

Chronic pancreatitis does not heal or improve. It gets worse over time and leads to permanent damage. The most common cause is heavy alcohol use. Other causes include cystic fibrosis and other inherited disorders, high levels of calcium or fats in the blood, some medicines, and autoimmune conditions.

Symptoms include nausea, vomiting, weight loss, and oily stools. Treatment may also be a few days in the hospital for intravenous (IV) fluids, medicines to relieve pain, and nutritional support. After that, you may need to start taking enzymes and eat a special diet. It is also important to not smoke or drink alcohol.

Acute Myeloid Leukemia

Author: Dr Frederick Appelbaum Fred Hutchinson Cancer Research Center Seattle 2008-07-28

Acute Myeloid Leukemia (AML) is the most common of the four types of leukemia, with an estimated 12,000 new cases diagnosed in the United States in 2006. AML may occur at any age, but the incidence of the disease increases as individuals get older, with the average age at diagnosis being approximately 60 years. If untreated, the average survival of patients is approximately 2 months, but with appropriate treatment, many patients can now be cured of their disease.

Acute Myeloid Leukemia

Also called: AML, ANLL, Acute myelogenous leukemia

Leukemia is cancer of the white blood cells. White blood cells help your body fight infection. Your blood cells form in your bone marrow. In leukemia, however, the bone marrow produces abnormal white blood cells. These cells crowd out the healthy blood cells, making it hard for blood to do its work. In acute myeloid leukemia (AML), there are too many of a specific type of white blood cell called a myeloblast.

AML is the most common type of acute leukemia in adults. This type of cancer usually gets worse quickly if it is not treated. Possible risk factors include smoking, previous chemotherapy treatment, and exposure to radiation.

Symptoms of AML include:

• Fever
• Shortness of breath
• Easy bruising or bleeding
• Bleeding under the skin
• Weakness or feeling tired
• Weight loss or loss of appetite

Tests that examine the blood and bone marrow diagnose AML. Treatments include chemotherapy, other drugs, radiation therapy, stem cell transplants, and targeted therapy. Targeted therapy uses substances that attack cancer cells without harming normal cells. Once the leukemia is in remission, you need additional treatment to make sure that it does not come back.

More about Acute Myeloid Leukemia

Acute Lymphocytic Leukemia

Also called: ALL, Acute lymphoblastic leukemia

Leukemia is cancer of the white blood cells. White blood cells help your body fight infection. Your blood cells form in your bone marrow. In leukemia, however, the bone marrow produces abnormal white blood cells. These cells crowd out the healthy blood cells, making it hard for blood to do its work. In acute lymphocytic leukemia (ALL), also called acute lymphoblastic leukemia, there are too many of specific types of white blood cells called lymphocytes or lymphoblasts. ALL is the most common type of cancer in children.

Possible risk factors for ALL include being male, being white, previous chemotherapy treatment, exposure to radiation, and for adults, being older than 70.

Symptoms of ALL include:

• Weakness or feeling tired
• Fever
• Easy bruising or bleeding
• Bleeding under the skin
• Shortness of breath
• Weight loss or loss of appetite
• Pain in the bones or stomach
• Pain or a feeling of fullness below the ribs
• Painless lumps in the neck, underarm, stomach, or groin

Tests that examine the blood and bone marrow diagnose ALL. Treatments include chemotherapy, radiation therapy, stem cell transplants, and targeted therapy. Targeted therapy uses substances that attack cancer cells without harming normal cells. Once the leukemia is in remission, you need additional treatment to make sure that it does not come back.

More about acute lymphoblastic leukemia

Acute bronchitis

Bronchitis is an inflammation of the bronchial tubes, the airways that carry air to your lungs. It causes a cough that often brings up mucus, as well as shortness of breath, wheezing, and chest tightness. There are two main types of bronchitis: acute and chronic.

The same viruses that cause colds and the flu often cause acute bronchitis. These viruses spread through the air when people cough, or through physical contact (for example, on unwashed hands). Being exposed to tobacco smoke, air pollution, dusts, vapors, and fumes can also cause acute bronchitis. Bacteria can also cause acute bronchitis, but not as often as viruses.

Most cases of acute bronchitis get better within several days. But your cough can last for several weeks after the infection is gone. If you think you have acute bronchitis, see your healthcare provider.

Treatments include rest, fluids, and aspirin (for adults) or acetaminophen to treat fever. A humidifier or steam can also help. You may need inhaled medicine to open your airways if you are wheezing. You probably do not need antibiotics. They don't work against viruses - the most common cause of acute bronchitis. If your healthcare provider thinks you have a bacterial infection, he or she may prescribe antibiotics.

More about acute bronchitis

Acupuncture

Acupuncture has been practiced in China and other Asian countries for thousands of years. Acupuncture involves stimulating specific points on the body. This is most often done by inserting thin needles through the skin, to cause a change in the physical functions of the body.

Research has shown that acupuncture reduces nausea and vomiting after surgery and chemotherapy. It can also relieve pain. Researchers don't fully understand how acupuncture works. It might aid the activity of your body's pain-killing chemicals. It also might affect how you release chemicals that regulate blood pressure and flow.

More about acupuncture

Acupuncture

Acupuncture is a component of Traditional Chinese Medicine that dates back over 2,000 years and involves the insertion of small needles at specific points in the body. The use of acupuncture is based on the theory that there are patterns of energy flow through the body (known as Qi – pronounced “chee”), and that disease states are due to impaired flow of this energy. The use of acupuncture is believed to improve disease states and symptoms by restoring the normal flow of Qi.

Acne

Source: National institute of arthritis and musculoskeletal and skin diseases

Acne is a disorder resulting from the action of hormones and other substances on the skin’s oil glands (sebaceous glands) and hair follicles. These factors lead to plugged pores and outbreaks of lesions commonly called pimples or zits. Acne lesions usually occur on the face, neck, back, chest, and shoulders. Although acne is usually not a serious health threat, it can be a source of significant emotional distress. Severe acne can lead to permanent scarring.

Acne

Also called: Pimples, Zits

Acne is a common skin disease that causes pimples. Pimples form when hair follicles under your skin clog up. Most pimples form on the face, neck, back, chest, and shoulders. Anyone can get acne, but it is common in teenagers and young adults. It is not serious, but it can cause scars.

No one knows exactly what causes acne. Hormone changes, such as those during the teenage years and pregnancy, probably play a role. There are many myths about what causes acne. Chocolate and greasy foods are often blamed, but there is little evidence that foods have much effect on acne in most people. Another common myth is that dirty skin causes acne; however, blackheads and pimples are not caused by dirt. Stress doesn't cause acne, but stress can make it worse.

If you have acne

• Clean your skin gently
• Try not to touch your skin
• Avoid the sun

Treatments for acne include medicines and creams.

More about acne

Achalasia (idiopathic)

Idiopathic achalasia is a rare esophageal motility disorder characterized by loss of esophageal peristalsis and abnormal lower esophageal sphincter (LES) relaxation in response to deglutition.
The disease can occur at any age, (similar in men and women), but is usually diagnosed between 25 and 60 years.
It is characterized predominantly by dysphagia to solids and liquids (difficulty to swallow), bland regurgitation, and chest pain.
Weight loss (usually between 5 to 10 kg) is present in most but not in all patients. Heartburn occurs in 27%–42% of achalasia patients. Etiology is unknown. Some familial cases have been reported
The diagnosis is based on history of the disease, radiography (barium esophagogram), and esophageal motility testing (esophageal manometry).
Endoscopic examination is important to rule out cancer as the cause of achalasia.
Treatment is strictly palliative. Current medical and surgical therapeutic options (pneumatic dilation, surgical myotomy, and pharmacologic agents) aimed at reducing the LES pressure and facilitating esophageal emptying by gravity and hydrostatic pressure of retained food and liquids. Excellent palliation is available in over 90% of patients.
More about idiopathic achalasia

Achalasia (idiopathic)

Source:  Farnoosh Farrokhi MD, Michael F Vaezi MD. Orphanet journal of rare diseases

Idiopathic achalasia is a rare esophageal motility disorder characterized by loss of esophageal peristalsis and abnormal lower esophageal sphincter (LES) relaxation in response to deglutition.
The disease can occur at any age, (similar in men and women), but is usually diagnosed between 25 and 60 years.

Abcess

An abscess is a pocket of pus. You can get an abscess almost anywhere in your body. When an area of your body becomes infected, your body's immune system tries to fight the infection. White blood cells go to the infected area, collect within the damaged tissue, and cause inflammation. During this process, pus forms. Pus is a mixture of living and dead white blood cells, germs, and dead tissue.

Bacteria, viruses, parasites and swallowed objects can all lead to abscesses. Skin abscesses are easy to detect. They are red, raised and painful. Abscesses inside your body may not be obvious and can damage organs, including the brain, lungs and others. Treatments include drainage and antibiotics.

Crohn’s disease

Crohn’s disease is a chronic disorder of unknown origin characterized by inflammation of the gastrointestinal (GI) tract.
Although any part of the GI tract can be affected, from the mouth to the anus, the area where the small intestine (terminal ileum) and colon (cecum) meet is the site most commonly involved.

Symptoms include abdominal pain, diarrhea, intestinal bleeding, and weight loss. These symptoms are non-specific and can be present in many other disorders including ulcerative colitis and gastrointestinal infection.

Diagnosis include blood tests, x-rays, and often a colonoscopy.

Treatments include anti-inflammatory drugs or immunomodulatory drugs (drugs that affect the immune system) with the goal of controlling the patients’ symptoms and making them feel well. In a number of situations, surgery is required. There is no cure for Crohn’s disease; it is a chronic illness, so the goals of therapy are to get the patient feeling back to normal, keep the patient feeling normal, and reduce the number of recurrent flares.

More about Crohn's disease

Polycystic ovary syndrome

Also called: PCOS, Stein-Leventhal Syndrome

Polycystic ovary syndrome (PCOS) happens when a woman's ovaries or adrenal glands produce more male hormones than normal. One result is that cysts (fluid-filled sacs) develop on the ovaries. Women who are obese are more likely to have polycystic ovary syndrome.

Symptoms of PCOS include:

• Infertility
• Pelvic pain
• Excess hair growth on the face, chest, stomach, thumbs, or toes
• Baldness or thinning hair
• Acne, oily skin, or dandruff
• Patches of thickened dark brown or black skin

Women with PCOS are at higher risk of diabetes, metabolic syndrome, heart disease, and high blood pressure. Medicines can help control the symptoms. Birth control pills help women have normal periods, reduce male hormone levels, and clear acne. Other medicines can reduce hair growth and control blood pressure and cholesterol. There is no cure.

Miscarriage

Also called: Spontaneous abortion

A miscarriage is the loss of pregnancy from natural causes before the 20th week of pregnancy. Most miscarriages occur very early in the pregnancy, often before a woman even knows she is pregnant. There are many different causes for a miscarriage. In most cases, there is nothing you can do to prevent a miscarriage.

Factors that may contribute to miscarriage include

• A genetic problem with the fetus. This is the most common cause in the first trimester.
• Problems with the uterus or cervix. These contribute in the second trimester.
• Polycystic ovary syndrome

Signs of a miscarriage can include vaginal spotting or bleeding, abdominal pain or cramping, and fluid or tissue passing from the vagina. Although vaginal bleeding is a common symptom of miscarriage, many women have spotting early in their pregnancy but do not miscarry. But if you are pregnant and have bleeding or spotting, contact your health care provider immediately.

Women who miscarry early in their pregnancy usually do not need any treatment. In some cases, you may need a procedure called a dilatation and curettage (D&C) to remove tissue remaining in the uterus.

Counseling may help you cope with your grief. Later, if you do decide to try again, work closely with your health care provider to lower the risks. Many women who have a miscarriage go on to have healthy babies.

Ectopic pregnancy

Also called: Abdominal pregnancy, tubal pregnancy

The uterus, or womb, is an important female reproductive organ. It is the place where a baby grows when a woman is pregnant. If you have an ectopic pregnancy, the fertilized egg grows in an abnormal place, outside the uterus, usually in the fallopian tubes. The result is usually a miscarriage.

Ectopic pregnancy can be a medical emergency if it ruptures. Signs of ectopic pregnancy include

• Abdominal pain
• Shoulder pain
• Vaginal bleeding
• Feeling dizzy or faint

Get medical care right away if you have these signs. Doctors use drugs or surgery to remove the ectopic tissue so it doesn't damage your organs. Many women who have had ectopic pregnancies go on to have healthy pregnancies later.

Aspergillosis

Aspergillosis is a disease caused by a fungus (or mold) called Aspergillus. The fungus is very common in both indoors and outdoors. Most people breathe in the spores of the fungus every day without being affected. But some people get the disease. It usually occurs in people with lung diseases or weakened immune systems.

There are different kinds of aspergillosis. One kind is allergic bronchopulmonary aspergillosis (also called ABPA). Symptoms of ABPA include wheezing and coughing. ABPA can affect healthy people but it is most common in people with asthma or cystic fibrosis.

Another kind is invasive aspergillosis, which damages tissues in the body. It usually affects the lungs. Sometimes it can also cause infection in other organs and spread throughout the body. It affects people who have immune system problems, such as people who have had a transplant, are taking high doses of steroids, or getting chemotherapy for some cancers.

Your doctor might do a variety of tests to make the diagnosis, including a chest x-ray, CT scan of the lungs, and an examination of tissues for signs of the fungus. Treatment is with antifungal drugs. If you have ABPA, you may also take steroids.

Mucopolysaccharidoses

Mucopolysaccharidoses are storage diseases
Mucopolysaccharidosis (MPS) is a group of rare, hereditary and incurable “storage diseases.” MPS is named after mucopolysaccharides (sugars bound to proteins), which are not broken down correctly in these diseases, causing the products of incomplete metabolism to accumulate in the body. The stored mucopolysaccharides, nowadays called glycosaminoglycans (GAGs), start to disrupt cellular functions. It is estimated that one in 25,000 newborn children has some type of mucopolysaccharidosis (an incidence of 1:25,000).
More about mucopolysaccharidoses

Gaucher disease

Gaucher disease is a rare inherited disorder, in which people do not have enough of an enzyme called acid beta-glucosidase, which normally breaks down a fatty waste product called glucosylceramide. Without the enzyme, glucosylceramide builds up in the body, typically in the liver, spleen and bone marrow, which produces the symptoms of the disease: anaemia (low red blood cell counts), tiredness, easy bruising and a tendency to bleed, an enlarged spleen and liver, and bone pain and breaks.
More about Gaucher disease

Gaucher disease

Source: Nadia BELMATOUG MD; Jérôme STIRNEMANN MD. Orphanet 


Gaucher disease is a rare inherited disorder, in which people do not have enough of an enzyme called acid beta-glucosidase, which normally breaks down a fatty waste product called glucosylceramide. Without the enzyme, glucosylceramide builds up in the body, typically in the liver, spleen and bone marrow, which produces the symptoms of the disease: anaemia (low red blood cell counts), tiredness, easy bruising and a tendency to bleed, an enlarged spleen and liver, and bone pain and breaks.

Gaucher disease (GD) is a lysosomal storage disorder encompassing three main forms (types 1, 2 and 3), a fetal form and a variant with cardiac involvement (Gaucher disease - ophthalmoplegia - cardiovascular calcification or Gaucher-like disease).


Frequency

The frequency is approximately 1/100,000. The annual incidence of GD in the general population is about 1/60,000, but it can reach up to 1/1,000 in Ashkenazi Jewish populations.

Symptoms

The clinical manifestations of this disease are highly variable.

• Type 1 (90% of cases) is the chronic and non-neurological form associated with organomegaly (spleen, liver), bone anomalies (pain, osteonecrosis, pathological fractures) and cytopenia. 
• Type 2, the acute neurological form, is characterized by early onset, rapidly progressing brainstem dysfunction, associated with organomegaly and leading to death before the age of 2. 
• Type 3, the subacute neurological form, affects children or adolescents and is characterized by progressive encephalopathy (oculomotor apraxia, epilepsy and ataxia) with the systemic manifestations seen in type 1. The fetal form manifests with a decrease or absence of fetal movements or anasarca. Gaucher-like disease presents with progressive calcification of the aorta and the aortic and/ or mitral valves as its main feature.

Genetics

GD is due to mutations in the GBA gene (1q21) that codes for a lysosomal enzyme, glucocerebrosidase, or in very rare cases the PSAP gene that codes for its activator protein (saposin C). The deficiency in glucocerebrosidase leads to the accumulation of glucosylceramidase (or beta-glucocerebrosidase) deposits in the cells of the reticuloendothelial system of the liver, the spleen and the bone marrow (Gaucher cells).
Transmission is autosomal recessive.

Diagnosis

Formal diagnosis of the disease is determined by the measurement of glucocerebrosidase levels in circulating leukocytes. Genotyping confirms the diagnosis.

Differential diagnoses include other lysosomal storage disorders. The presence of Gaucher-like cells can be found in certain hematologic diseases (lymphoma, Hodgkin's lymphoma and chronic lymphocytic leukemia; see these terms).

Treatments

There are two available treatments for GD type 1 and 3: enzyme substitution therapy (using imiglucerase or velaglucerase) and substrate reduction therapy (miglustat). These treatments are ineffective for GD type 2.

Prognosis

The prognosis is good in GD type 1.
In type 2, death usually occurs before the age of 2. Without specific treatment,
GD type 3 progresses to death within a few years.

Severe combined immunodeficiency

Severe combined immunodeficiency (SCID, pronounced “skid”) is a rare, fatal syndrome of diverse genetic cause in which there is combined absence of T- lymphocyte and B-lymphocyte function (and in many cases also natural killer, or NK lymphocyte function). These defects lead to extreme susceptibility to serious infections. There are currently twelve known genetic causes of SCID. Although they vary with respect to the specific defect that causes the immunodeficiency, some of their laboratory findings and their pattern of inheritance, these all have severe deficiencies in both T cell and B cell function.
More about severe combined immunodeficiency

Vasopressin

Vasopressin – Also called anti-diuretic hormone (ADH) promotes water to be reabsorbed by the kidneys and is thus essential in water and electrolyte balance. This hormone is actually produced by the hypothalamus and then stored in the pituitary gland until it is ready to be released into the circulation.
More about pituitary disorders

Adrenocorticotropic Hormone

Adrenocorticotropic Hormone (ACTH) triggers the adrenal glands (located above the kidneys) to release cortisol which in turn, regulates carbohydrate, fat, and protein metabolism, and is essential in the stress response. 
More about pituitary disorders

Thyroid Stimulating Hormone

Thyroid Stimulating Hormone (TSH): This hormone stimulates the thyroid gland to release thyroid hormones. Thyroid hormones control basal (basic) metabolic rate and play an important role in growth and maturation. Thyroid hormones affect almost every organ in the body. 
More about pituitary disorders

Prolactinoma

Source:  Pr Albert BECKERS, Dr Adrian DALY. Orphanet

Prolactinoma is a usually benign tumor of the pituitary gland that results in hyperprolactinemia.
Prolactinomas induce galactorrhoea, amenorrhoea and infertility in women, and hypogonadism, sexual dysfunction, impotence, infertility and, more rarely, gynecomastia in men.

Prolactin

Prolactin is a hormone released by the pituitary gland. This hormone stimulates secretion of breast milk.
Pregnant women have high levels of prolactin. 
Many medicines can cause prolactin levels to increase.
Hyperprolactinemia is a condition of too much prolactin in the blood of women who are not pregnant and in men.A pituitary tumor (just below the brain) called prolactinoma can cause hyperprolactinemia
It can change or stop ovulation (the release of an egg from the ovary).
In men, high prolactin levels can cause galactorrhea, impotence (inability to have an erection during sex), reduced desire for sex, and infertility. 
More about prolactinoma

Follicle Stimulating Hormone

Luteinizing Hormone (LH) and Follicle Stimulating Hormone (FSH): These hormones control the production of sex hormones (estrogen and testosterone) as well as sperm and egg maturation and release.
More about pituitary disorders

Luteinizing Hormone

Luteinizing Hormone (LH) and Follicle Stimulating Hormone (FSH): These hormones control the production of sex hormones (estrogen and testosterone) as well as sperm and egg maturation and release.
More about pituitary disorders

Growth Hormone

Growth Hormone (GH) or somatotropin or somatropin is the principal hormone that, among many other functions, regulates body and brain development, bone maturation, metabolism, and is essential for healthy muscles. 
Diseases:
-acromegaly: excess of growth hormone
-growth failure and short stature: deficiency of growth hormone
More about acromegaly