Medical Terms

ADRENAL GLANDS ad-REE-nal): a pair of glands on top of the kidneys which normally produce epinephrine (adrenaline) when we are stressed or excited.
ADRENALECTOMY (ad-REE-nal-EK-to-mee): surgical removalof an adrenal gland. May be partial or total.
ADRENALINE (a-DREN-a-lin) or epinephrine: A hormone secreted by the adrenal medulla upon stimulation by the central nervous system in response to stress such as anger or fear. It acts to increase heart rate, blood pressure, cardiac output and carbohydrate metabolism.
ALLELE (a-LEEL): One of the two copies of each gene in an individual. In people with VHL, one copy of the VHL gene is altered and one has the normal sequence.
AMNIOCENTESIS (AM-Neo-cen-te-sis): A prenatal testing method where fluid is drawn for analysis from the amniotic sac surrounding the fetus, usually at 16-18 weeks of gestation.
ANGIOGRAM (ANN-gee-o-GRAM): A picture or map of the blood vessels in a particular area of the body, usually produced by injecting a special dye into the blood vessels and taking x-ray or magnetic resonance pictures. See also Fluorescein angiogram.
ANGIOMA (ann-gee-O-ma): An unusual growth made up of blood or lymphatic vessels, forming a benign tumor; a hemangioma (blood vessels) or lymphangioma (lymphatic vessels). In VHL, angiomas are made up of blood vessels and so are technically hemangiomas.
ANGIOMATOSIS :Another name for von Hippel-Lindau.
ARTIFICIAL INSEMINATION : Medical insertion of sperm from a donor into the womb of the mother.
ASYMPTOMATIC: The patient is not experiencing discomfort or other symptoms.
AUDIOLOGY (aw-dee-OL-o-gy): The study of hearing. Often refers to a hearing test (audiogram), which determines hearing loss.
AUDIOMETRIC (aw-dee-oh-MET-rik): An audiometric examination is an examination in which the hearing is measured and evaluated.
AUTOSOME: A non sex-determining chromosome. An autosomal dominant trait is one which occurs on one of the chromosomes which do not determine gender, and is dominant because it takes only one altered copy of the gene to cause the trait.
BENIGN TUMOR (bee-NINE): An abnormal growth that is not cancer and does not spread to other parts of the body. Benign does not mean harmless, only that it does not spread.
BIOMARKER: Some trace chemical in the blood or urine that we can test for, that will indicate the progress of a disease. For example, the PSA test for prostate cancer indicates whether the prostate gland is enlarging so that you know whether you need additional testing and treatment.
BROAD LIGAMENT: The broad ligament is a folded sheet of tissue that drapes over the uterus, fallopian tubes and the ovaries.
CAPILLARIES (CAP-a-lar-reez): The smallest of the blood vessels in the body, carrying nourishment to the cells.
CADAVER DONOR: A cadaver organ comes from a person who is brain dead due to an accident or stroke, and who has signed an organ donor card. Once the heart stops beating entirely, the kidney cannot be used.
CANCER:: A general term for more than 100 diseases in which abnormal cells grow and multiply rapidly. Cancer cells can spread through the blood or lymphatic system to start new cancers in other parts of the body.
CATECHOLAMINES (kat-e-COAL-a-meens): adrenaline by-products found in the urine or blood, where their measurement is used as a test for pheochromocytoma. Most important for VHL, is measurement of fractionated metanephrines, especially normetanephrine.
CEREBELLUM (ser-a-BELL-um): A large portion of the base of the brain which serves to coordinate voluntary movements, posture, and balance.
CEREBRAL (ser-EE-bral): The upper or main portion of the brain, often used to refer to the entire brain.
CHROMOSOME (KRO-mo-sohm): Sets of linear DNA from which the genes are arranged, carrying all the instructions for a species. Human beings have 23 pairs of chromosomes. In each pair, one chromosome, containing one copy of each gene, is inherited from the mother and one from the father.
CHRONIC VILLUS (vil-lus) SAMPLING (CVS): A prenatal testing method involving taking a sample of cells for analysis from the finger-like edges of the fetal part of the placenta, usually at 9-11 weeks of gestation.
CODON (KO-don): A triplet of three bases in a DNA molecule, a code for making a single amino acid of a protein.
COMPUTED TOMOGRAPHY (CT) scan :A diagnostic procedure using a combination of X-ray and computer, and optionally some contrast dye. A series of X-ray pictures are taken of the tissues being studied. The computer is then used to calculate the size and density of any tumors seen on the pictures.
CRYOTHERAPY: A method of stunting the growth of tissues by freezing them. Used most commonly on retinal angiomas.
CYSTS:: Fluid-filled sacs that may occur normally in tissues from time to time, or that may grow up around irritations in tissues.
DE NOVO (day-NO-vo): New, for the first time.
DENSITY: a quality of a tissue to be soft or solid. Muscle is less dense than bone; a sac filled with fluid is less dense than a hard tumor.
DIFFERENTIAL DIAGNOSIS:Many of the tumors of VHL occur in the general population, or in other syndromes as well. The doctor has to sort out whether the tumor is sporadic or whether it is part of VHL or another syndrome. To answer this question a number of tests may be required, which may include DNA testing.
DNA Deoxyribonucleic acid (DEE-ox-ee-RYE-bo-nu-KLAY-ik ASS-id): Four substances which makes up chromosomes and their genes. As coding sequences they determine the function of a gene—for instance the synthesis of a protein and the amino acid sequence of the protein.
-ECTOMY (EK-to-mee): a suffix which means removal. For example, adrenalectomy means removal of the adrenal gland.
EMBRYOLOGICAL (em-bree-o-LODGE-i-kal): Having to do with the process of development of the baby before birth. The baby starts out as a single cell, from which all organs and tissues develop. As the embryo forms, the cells evolve. The epididymis in men and the broad ligament structures in women develop from the same cells.
ENDOCRINOLOGIST(EN-do-krin-OL-o-gist): A physician specializing in the treatment of the endocrine system, its hormones, and glands, which includes the adrenal glands, pancreas and a number of other organs and glands.
ENDOLYMPHATIC SAC (en-do-lim-FA-tik sack): the bulb-like end of the endolymphatic duct, which connects to the semicircular canals of the inner ear.
ENUCLEATION (ee-NU-klee-A-shun): Referring to kidney or pancreas, removal of a tumor with only a small margin of healthy tissue to ensure that all the unhealthy tissue is out. This is sometimes referred to as a lumpectomy, or removal of the tumor (lump) only. In ophthalmology, enucleation means removal of the eye. If the retina has detached, the blood supply to the eye is reduced and the eye may deteriorate, causing discomfort. If this occurs, enucleation of the eye may be recommended. A good prosthesis (artificial eyeball), can be made to look like a healthy eye.
EPIDIDYMIS (epi-DID-imus): A gland which lies behind the testicle, in the scrotum, on the path to the vas deferens, the vessel that carries the sperm from the testicle to the prostate gland, and is important for sperm maturation, mobility and storage.
FALLOPIAN TUBE (fa-LOPE-i-an): the channel carrying eggs from the ovary to the uterus.
FAMILIAL (fam-EE-lee-al): It occurs in families, whether or not transmitted genetically. Chicken pox is considered familial, but is not genetic
FLUORESCEIN ANGIOGRAM (FLUR-a-seen AN-gio-gram):  An angiogram of the retina of the eye, named for the contrast dye that is used. This procedure produces an image of the blood vessels of the retina, sometimes in full motion video so that the ophthalmologist can see the health of the blood vessels and how the blood moves through them.
GADOLINIUM (gad-o-LIN-ee-um): a contrast medium, injected into the patient’s bloodstream prior to an MRI test to highlight the blood vessels and provide better contrast so the radiologist can see any abnormal structures more clearly.
GASTROENTEROLOGIST (GAS-tro-en-ter-OL-o-jist): A physician who specializes in the diagnosis and treatment of disorders of the gastrointestinal tract, including the esophagus, stomach, small intestine, pancreas, liver, gall bladder, and biliary system (liver).
GENE (jeen): The position on a chromosome where a specific DNA sequence, or allele, resides. Changes in the sequence from one allele to another can be transmitted to the next generation.
GENETIC COUNSELOR: A medical professional (not a physician) specializing in working with patients and families with genetically inherited conditions like VHL. Genetic counseling may include a discussion and analysis of your family tree and some testing procedures.
GENETICIST : A geneticist is a scientist specializing in the study of genes and the way they influence our health, and in treatment of genetic disorders.
GENOME (JEE-nohm): The entire array of genes of an organism or species.
GENOTYPE (JEE-no-type): The particular pair of alleles (copies of the gene) that an individual possesses at a given gene locus or site (two copies of each gene). One of these alleles (copies) is inherited from the mother, the other from the father. The genotype describes the configuration of the altered gene.
GERMLINE (JERM-line): Any genetic alteration that occurs in every cell of the body, including testes in men and the ovaries in women, that produce the sperm and eggs that will become children.
-GRAM: A suffix that indicates that a message or picture is being created. For example, an angiogram is a picture of the blood vessels (ANGIO-)
HEMANGIOMA (hee-MAN-jee-O-ma): An abnormal growth of blood vessels, forming a benign tumor.
HEMANGIOBLASTOMA (hee-MAN-jee-o-blast-O-ma): An abnormal growth of blood vessels forming a benign tumor; a variety of hemangioma found especially in VHL, in the brain or spinal cord.
HEREDITARY: Occurring because of something in the genes you got from your parents, something you inherited. Not due to infection or an event during your lifetime.
HYPERNEPHROMA (hyper-nef-ROH-ma): A kidney tumor that contains cancer cells. The more modern term is renal cell carcinoma (RCC).
INVASIVE: Describes medical procedures that require entering or “invading” your body.
KIDNEY: One of a pair of organs in back of the abdominal cavity that filter waste materials out of the blood and pass them out of the body as urine.
LAPAROSCOPY (lap-ar-OSS-ko-pee): A technique for performing a surgical procedure through slits in the skin using special surgical probes, rather than making one large incision. Depending on the position of the tumor and the extensiveness of the procedure, use of this technique may or may not be possible.
LASER TREATMENT: The surgical use of a minutely focused light to deliver a microscopic cauterization, or burn.
LESION: Any localized abnormal structural change, such as an ANGIOMA.
 LINKAGE ANALYSIS: A method of DNA testing used when a direct test is not available. This was the only testing available for VHL before the gene was found in 1993. A study is made of the inheritance pattern of the set of genes on chromosome 3 that are usually inherited as a group. Based on analysis of these groupings, a prediction can be made whether this person is likely to have inherited the group with the altered VHL gene in it.
LIVER: A large organ in the upper right side of the abdominal cavity that secretes bile and is active in regulating various parts of the process of digesting food and using it to best advantage in the body.
LOCALIZE: To find. Doctors use this term to mean finding on the scan exactly where a tumor is located. For a pheo, for example, the tumor can occur anywhere from your groin to your earlobe, on either side of the body, so finding a pheo is not an easy quest.
MAGNETIC RESONANCE IMAGING (MRI):An imaging technique where magnetic energy is used to examine tissues in your body, and the information is used by a computer to create an image. There is no radiation exposure. The resulting images look very much like X-rays, but include images of soft tissues (like blood vessels) as well as hard tissues (like bones). Claustrophobia can be an issue, since this procedure requires lying still in a tunnel-like structure for at least half an hour. Calming drugs can be used, or there are new machines that have a more open, cage-like structure, and various attempts are being made to shorten the time required. It is important to use enough magnet strength to get a clear picture.
MALIGNANT (ma-LIG-nant): Cancerous. Cancer cells can spread through the blood or lymphatic system to start new cancers in other parts of the body.
METANEPHRINES (met-a-NEF-rins): A group of adrenaline by-products found in the urine or blood, where its measurement is used as a test for pheochromocytoma. Fractionated metanephrines assay breaks the group of metanephrines into its component parts (metanephrine and normetanephrine) and measures them separately. It is the measure of normetanephrine which is the most accurate indicator of pheo in VHL. Calculations differ for other pheo syndromes.
METASTASIZE (me-TAS-ta-size): To spread from one part of the body to another. When cancer cells metastasize and form secondary tumors, the cells in the metastatic tumor are like those in the original tumor. Thus if kidney cancer cells are found in a tumor in the spine, we know it has metastasized, or spread, from the kidney.
MIBG SCAN: A nuclear medicine procedure using a radioactive isotope or tracer, which is absorbed by pheochromocytoma tissue. Meta-Iodo-Benzyl-Guanidine (MIBG) is injected into the patient before the scan is performed, making the pheo stand out clearly on the diagnostic pictures.
MLPA (Multiplex Ligation-Dependent Probe Amplification): A newer, more efficient, and more accurate procedure for analyzing a DNA sample.
MONITORING: Monitoring is checking up on known issues, to make sure that they are treated at the best time to insure long-term health. You and your medical team will work out the right interval for checkups, depending on your particular situation.
MUTATION: A change in the sequence of DNA coding in a gene.
MYELOGRAM (MY-lo-GRAM): a diagnostic procedure which creates an image of the spinal cord. A dye is injected into the spinal canal, and X-ray pictures are taken of the spinal cord.
NEOPLASIA (NEE-oh-PLAY-zia): literally, new growth, a lesion grown from a single cell, not transplanted from another place.
NEPHRECTOMY (nef-REK-to-mee): Removal of all (total) or some (partial) of one kidney.
NEUROENDOCRINE (NEW-ro-EN-do-krin): Having to do with the interactions between the nervous system and the endocrine system, which secretes (produces) hormones. Neuroendocrine describes certain cells that release hormones (neurohormone) into the blood in response to stimulation of the nervous system. In VHL these are found in pheochromocytomas and pancreatic neuroendocrine tumors.
NEUROLOGIST: A physician specializing in nonsurgical treatment of the nervous system, the brain, spinal cord and peripheral nerves.
NEUROSURGEON: A physician specializing in the surgical treatment of the nervous system, the brain, spinal cord, and peripheral nerves.
NEUROTOLOGIST (new-ro-TOLL-uh-jist): A physician specializing in the structure and function of the internal ear, its neural connections with the brain and the management of skull base diseases. A neurotologist is an ear, nose and throat surgeon (otolaryngologist) who has undergone additional training in this area and typically works in conjunction with a team of specialists including other otolaryngologists, neurologists and neurosurgeons.
NORADRENALINE (NOR-a-DREN-a-lin): The metabolite of adrenaline, produced when adrenaline is metabolized or processed by the body.
NORMETANEPHRINE (NOR-meta-NEF-rin): The metabolite of metanephrine, produced when metanephrine is broken down by the body.
NUCLEAR MEDICINE: Medical procedures for diagnosis and treatment which involve some sort of radioactive isotope.
OMAYA RESERVOIR: a device surgically inserted under the scalp which is used in chemotherapy to deliver drugs directly to the tumor bed or into the spinal fluid. The drugs are then given through the reservoir, rather than through the back during a spinal tap. In Lisa’s case the device was used to draw off fluid from the cyst.
ONCOLOGIST (on-KOL-o-gist): A physician specializing in treatment of various forms of cancer.
OPHTHALMOLOGIST (OFF-thal-MOL-o-gist): A physician specializing in treatment of diseases of the eye.
OPTOMETRIST (op-TOM-e-trist): An optometrist, or doctor of optometry (O.D.) is a health care professional who diagnoses and treats eye health and vision problems. They prescribe glasses, contact lenses, low vision rehabilitation, vision therapy and medications, and perform some surgical procedures not related to VHL.
PANCREAS (PAN-kree-as): A gland near the stomach which secretes digestive enzymes into the intestine and also secretes the hormone insulin into the blood as needed to regulate the level of sugar in the blood.
Pancreatic NET: Pancreatic Neuro-endocrine Tumor, a solid tumor of the islet-cell portion of the pancreas which secretes hormones when it is “active”. The abbreviation PNET is also used to refer to two other tumors which are not related to VHL.
PANCREATITIS (pan-kree-a-TIE-tis): inflammation of the pancreas.
PAPILLARY (PAP-i-lar-ry): nipple-shaped.
PARAGANGLIOMA (PAR-a-GAN-glee-OH-ma): A pheo outside of the adrenal gland, which is also called an extra-adrenal pheochromocytoma (extra meaning “outside”). In this book they are referred to as pheos. Paraganglioma is the term most frequently applied to pheos of the head and neck.
PENETRANCE: The probability that a gene will make any effect of its alteration evident. The VHL gene has almost complete penetrance (if someone has the altered VHL gene, they will almost certainly have some manifestation of VHL disease within their lifetime), but widely variable expression (the severity of those manifestations will vary widely).
PET SCANNING (Positron Emission Tomograph)y: A specialized imaging technique using short-lived radioactive substances to provide information about the body’s chemistry. This technique produces three-dimensional color images showing the activity level of certain tumors.
PHENOTYPE (FEE-no-type): The clinical appearance of a specific genotype, for example the set of VHL symptoms one person may have. The same genotype may be expressed differently from one individual to the next due to differences in other genes, or in the environment.
PHEOCHROMOCYTOMA (FEE-o-KRO-mo-sigh-TOE-mah): or “pheo” for short. A tumor (cytoma) of the adrenal gland which causes the adrenal gland to secrete too much adrenalin, potentially causing harm to the heart and blood vessels. Pheos can also occur outside the adrenal glands, and people can have more than two pheos. Outside the adrenals, they are sometimes called paragangliomas.
PNET or Pancreatic NETPancreatic Neuro-endocrine Tumor): A solid tumor of the islet-cell portion of the pancreas which secretes hormones when it is “active”. The abbreviation PNET is also used to refer to two other tumors which are not related to VHL.
PMID: An abbreviation for PubMed ID, the catalog number for an article catalogued in an internet resource, To find “PMID: 18799446” go to PubMed and search for 18799446. The catalog will display the abstract of the article, and will tell you how to obtain the full text in English and sometimes also in additional languages.
PREIMPLANTATION GENETIC DIAGNOSIS (PGD): is a breakthrough technology that improves the likelihood of having a healthy baby. PGD is most commonly performed when one or both partners carry a genetic disease.
RADIO FREQUENCY ABLATION (RFA): A laparoscopic surgical procedure where a heat probe is inserted laparoscopically into the tumor, and the tumor is heated to disable its growth potential. This is one possible way to treat a VHL kidney tumor.
RADIOLOGIST;\: A physician specializing in diagnostic techniques for viewing internal organs and tissues without surgery. Radiological methods include X-ray, MRI, computed tomography (CT) scan, ultrasound, angiography, and nuclear isotopes.
RENAL CELL CARCINOMA (RCC): Cancer of the kidney.
RESECTION (ree-SEK-shun): A term used to describe the removal of a tumor from an organ such as a kidney, while retaining (sparing) the organ itself.
RETINA: The nerve tissue that lives at the back of the eye, similar to the film in a camera, which takes the image you are looking at and transmits it to the brain through the optic nerve. This area is nourished by a web of very fine blood vessels.
RETINAL SPECIALIST: An ophthalmologist who specializes in treatment of diseases of the retina.
SCREENING: Testing before symptoms appear, to make sure that any issues are found early. It is best not to wait for symptoms.
SEROUS MICROCYSTIC ADENOMAS: Grapelike clusters of cysts which may occur in the pancreas. Cysts are composed of epithelium-lined collections of serous fluid that vary in size from several millimeters to over 10 cm. (over four inches).
SIGN: Physical evidence of the existence of something which can be demonstrated by a medical doctor.
SPORADIC: Occurring at random in the general population. Not due to heredity.
SYMPATHETIC NERVOUS SYSTEM: A chain of small structures that transmit signals from the central nervous system to the organs. The adrenal gland is the major gland in this chain, but small ganglia run from the groin to the ear lobe on both sides of the body. A pheochromocytoma can hide anywhere along this system.
SYMPTOM: A feeling or other subjective complaint suggestive of a medical condition.
SYMPTOMATIC: The patient is experiencing symptoms.
SYNDROME: A collection of signs and symptoms associated with a disease.
SYRINX (SEER-inks): A fluid-filled sac, like a cyst, but occurring inside the spine where it has the shape of an elongated tube lying along or inside the spinal cord and inside the bony spinal column.
TINNITUS (TIN-ih-tis): A ringing in one or both ears. It may also be a roaring or hissing sound.
TUMOR: An abnormal growth that is solid and may be benign or malignant.
ULTRASOUND: A diagnostic technique that provides pictures of internal organs and structures. It works like the sonar used by submarines, bouncing sound waves off an object and using a computer to interpret the sound returned. The interpretation of an ultrasound is very dependent upon body structure, the amount of body fat, and the skill of the operator.
UROLOGIST: A physician specializing in surgical and non-surgical treatment of the kidney, bladder and male genital organs, including the penis and scrotal structures.
VERTIGO (VER-tih-go): A sensation of dizziness or loss of balance, inability to walk a straight line, or “walking into walls”.
VISCERA (VISS-ser-ah): Any of a number of organs in the abdominal area, including the kidney, liver, pancreas, and adrenal glands.
X-RAY: A diagnostic imaging technique where radiation passes through the body to create images of hard tissues (like bones and solid tumors) onto photographic film.

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Last Modified: January 13, 2015

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