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 removal of an adrenal gland. May be partial or total.
ALLELE (a-LEEL): One of the two copies
of each gene in an individual. In people with VHL, one copy
is altered and one has the normal sequence.
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
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.
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 prostate cancer activity in the body
is low or high, 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.
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, where their measurement
is used as a test for pheochromocytoma.
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.
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.
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.
-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.
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, where its measurement is used as a test
for pheochromocytoma.
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.
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.
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 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.
NUCLEAR MEDICINE: Medical procedures
for diagnosis and treatment which involve some sort of radioactive
isotope.
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.
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 the adrenal gland, which is also called an extra-adrenal
pheochromocytoma (extra meaning outside).
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 Tomography,
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: Pancreatic Neuro-endocrine Tumor,
a solid tumor of the islet-cell portion of the pancreas which
secretes hormones when it is “active”.
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.
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.
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 three
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 spinal cord where it has
the shape of an elongated tube lying inside the spinal cord
and 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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