Define:
Gaucher’s disease
Gaucher disease is an inherited disorder that affects many of the body's organs and tissues.
Type 1 Gaucher disease is the most common form of this condition. Type 1 is also called non-
neuronopathic Gaucher disease because the brain and spinal cord (the central nervous system)
are usually not affected. The features of this condition range from mild to severe and may
appear anytime from childhood to adulthood. Major signs and symptoms include enlargement of
the liver and spleen (hepatosplenomegaly), a low number of red blood cells (anemia), easy
bruising caused by a decrease in blood platelets (thrombocytopenia), lung disease, and bone
abnormalities such as bone pain, fractures, and arthritis.
Types 2 and 3 Gaucher disease are known as neuronopathic forms of the disorder because
they are characterized by problems that affect the central nervous system. In addition to the
signs and symptoms described above, these conditions can cause abnormal eye movements,
seizures, and brain damage. Type 2 Gaucher disease usually causes life-threatening medical
problems beginning in infancy. Type 3 Gaucher disease also affects the nervous system, but it
tends to worsen more slowly than type 2.
The most severe type of Gaucher disease is called the perinatal lethal form. This condition
causes severe or life-threatening complications starting before birth or in infancy. Features of
the perinatal lethal form can include extensive swelling caused by fluid accumulation before
birth (hydrops fetalis); dry, scaly skin (ichthyosis) or other skin abnormalities;
hepatosplenomegaly; distinctive facial features; and serious neurological problems. As its name
indicates, most infants with the perinatal lethal form of Gaucher disease survive for only a few
days after birth.
Another form of Gaucher disease is known as the cardiovascular type because it primarily
affects the heart, causing the heart valves to harden (calcify). People with the cardiovascular
form ofGaucher disease may also have eye abnormalities, bone disease, and mild enlargement
of the spleen (splenomegaly).
APLASTIC ANEMIA
Aplastic anemia is a condition that occurs when your body stops producing enough new blood
cells. Aplastic anemia leaves you feeling fatigued and with a higher risk of infections and
uncontrolled bleeding.
A rare and serious condition, aplastic anemia can develop at any age. Aplastic anemia may
occur suddenly, or it can occur slowly and get worse over a long period of time. Treatment for
aplastic anemia may include medications, blood transfusions or a stem cell transplant.
ONYALAI
Onyalai /ony·al·ai/ (o″ne-al´a-e) is an acquired form of immune thrombocytopenia which differs clinically,
epidemiologically and immunologically from idiopathic thrombocytopenic purpura. [1]
The clinical hallmark is haemorrhagic bullae on the mucosa of the oronasopharynx. [1] Haemorrhage from
ruptured bullae, epistaxis or gastrointestinal bleeding is severe and may cause shock and death. [1] It is limited to
some black populations of central southern Africa.[1][2]
Onyalai is an acute disease that results in the development of hemorrhagic lesions on oral, nasal, and
subconjunctival mucous membranes and skin, including on the soles of the feet. [2] The patient initially is not in
distress, which may result in a delay of diagnosis. As the disease progresses, hematuria, melena and
menorrhagia may develop. Bleeding usually persists for approximately eight days, and may recur.
[2]
Approximately 80 percent of cases will develop chronic thrombocytopenia. Periodic episodes of acute
hemorrhage are possible and may be severe, leading to shock and death.
IDENTIFY HELLP SYNDROME AND HEMOLYTIC – UREMIC SYNDROME
HELLP syndrome is a life-threatening pregnancy complication usually considered to be a variant of preeclampsia.
Both conditions usually occur during the later stages of pregnancy, or sometimes after childbirth.
H (hemolysis, which is the breaking down of red blood cells)
EL (elevated liver enzymes)
LP (low platelet count)
HELLP syndrome can be difficult to diagnose, especially when high blood pressure and protein in the urine aren't
present. Its symptoms are sometimes mistaken for gastritis, flu, acute hepatitis, gall bladder disease, or other
conditions.
Hemolytic uremic syndrome, or HUS, is a kidney condition that happens when red blood cells are destroyed and
block the kidneys' filtering system. Red blood cells contain hemoglobin—an iron-rich protein that gives blood its red
color and carries oxygen from the lungs to all parts of the body.
When the kidneys and glomeruli—the tiny units within the kidneys where blood is filtered—become clogged with the
damaged red blood cells, they are unable to do their jobs. If the kidneys stop functioning, a child can develop acute
kidney injury—the sudden and temporary loss of kidney function. Hemolytic uremic syndrome is the most common
cause of acute kidney injury in children.
DISORDER OF PLATELET ADHESION OR AGGREGATION:”
Thrombocytosis is a condition in which there is an excessive number of platelets in the blood. Platelets are
blood cells in plasma that stop bleeding by sticking together to form a clot. Too many platelets can lead to
certain conditions, including stroke, heart attack, or a clot in the blood vessels.
There are two types of thrombocytosis: primary and secondary. Primary thrombocytosis, also known
as essential thrombocythemia (or ET), is a disease in which abnormal cells in the bone marrow cause an
increase in platelets. The cause is unknown.
Secondary thrombocytosis is caused by another condition the patient may be suffering from, such as:
anemia due to iron deficiency
cancer
inflammation or infection
surgery, especially splenectomy (removal of the spleen)
What are the symptoms of thrombocytosis?
Most patients do not experience any symptoms of an increased platelet count. When symptoms do appear,
they can include skin bruising or bleeding from various sites such as the nose, mouth, and gums, or the
stomach and intestinal tract. Abnormal blood clotting can also occur, leading to stroke, heart attack, and
unusual clots in the blood vessels of the abdomen.
Bernard–Soulier syndrome (BSS), also called hemorrhagiparous thrombocytic dystrophy,[2] is a
rare autosomal recessivecoagulopathy (bleeding disorder) that causes a deficiency of glycoprotein Ib (GpIb),
the receptor for von Willebrand factor[3]The incidence of BSS is estimated to be less than 1 case per million
persons, based on cases reported from Europe, North America, and Japan.BSS is a giant platelet disorder,
meaning that it is characterized by abnormally large platelets.[
Bernard–Soulier syndrome is associated with quantitative or qualitative defects of the platelet glycoprotein
complex GPIb/V/IX. The degree of thrombocytopenia may be estimated incorrectly, due to the possibility that
when the platelet count is performed with automatic counters, giant platelets may reach the size of red blood
cells. The large platelets and lowplatelet count in BSS are seemingly due to the absence of GPIbα and
the filamin Abinding site that links the GPIb-IX-V complex to the platelet membrane skeleton. [6
Glanzmann thrombasthenia (GT) is a rare genetic platelet disorder in which the platelets have qualitative or quantitative
deficiencies of the fibrinogen receptor αIIbβ3.
Signs and symptoms
Signs and symptoms of GT include the following:
Mucosal bleeding
Gingival bleeding
Petechiae and ecchymoses
Mennorhagia
Gastrointestinal bleeding
SCOTT SYNDROME
Scott syndrome is a mild platelet-type bleeding disorder characterized by impaired surface
exposure of procoagulant phosphatidylserine (PS) on platelets and other blood cells, following
activation with Ca(2+)-elevating agents. Scott syndrome is a rare congenital bleeding disorder that is
due to a defect in a platelet mechanism required for blood coagulation.[1] When normal platelets are activated,
as may occur at sites of vascular injury, phosphatidylserine (PS) in the inner leaflet of the platelet membrane is
transported to the outer membrane surface of the platelet, where it provides a binding site for plasma protein
complexes, such as factor VIIIa-IXa (tenase) and factor Va-Xa (prothrombinase), that are involved in the
conversion of prothrombin tothrombin.[2] In Scott syndrome, the mechanism for translocating PS to the platelet
membrane is defective, resulting in impaired thrombin formation.[3][4][5] A similar defect in PS translocation has
also been demonstrated in Scott syndrome red blood cells and Epstein-Barr virus transformed lymphocytes,
suggesting that the defect in Scott syndrome reflects a mutation in a stem cell that affects multiple
hematological lineages. The basis for the defect in PS translocation is, at present, unknown. A candidate
protein,scramblase,[6] that may be involved in this process appears to be normal in Scott syndrome platelets.
Hermansky-Pudlak syndrome is a disorder characterized by a condition
called oculocutaneous albinism, which causes abnormally light coloring (pigmentation) of the
skin, hair, and eyes. Affected individuals typically have fair skin and white or light-colored hair.
People with this disorder have a higher than average risk of skin damage and skin cancers
caused by long-term sun exposure.Oculocutaneous albinism reduces pigmentation of the
colored part of the eye (iris) and the light-sensitive tissue at the back of the eye (retina).
Reduced vision, rapid and involuntary eye movements (nystagmus), and increased sensitivity to
light (photophobia) are also common inoculocutaneous albinism. In Hermansky-Pudlak
syndrome, these vision problems usually remain stable after early childhood.
Gray platelet syndrome is a bleeding disorder associated with abnormal platelets, which are
blood cell fragments involved in blood clotting. People with this condition tend to bruise easily
and have an increased risk of nosebleeds (epistaxis). They may also experience abnormally
heavy or extended bleeding following surgery, dental work, or minor trauma. Women with gray
platelet syndrome often have irregular, heavy periods (menometrorrhagia). These bleeding
problems are usually mild to moderate, but they have been life-threatening in a few affected
individuals.
A condition called myelofibrosis, which is a buildup of scar tissue (fibrosis) in the bone marrow,
is another common feature of gray platelet syndrome. Bone marrow is the spongy tissue in the
center of long bones that produces most of the blood cells the body needs, including platelets.
The scarring associated with myelofibrosis damages bone marrow, preventing it from making
enough blood cells. Other organs, particularly the spleen, start producing more blood cells to
compensate; this process often leads to an enlarged spleen (splenomegaly).
Platelet storage pool deficiency refers to a group of conditions that are caused
by problems with the plateletgranules. Platelet granules are tiny storage sacs found
within the platelets which release various substances to help stop bleeding. Platelet
storage pool deficiencies occur when platelet granules are absent, reduced in
number, or unable to empty their contents into the bloodstream. The signs and
symptoms include frequent nosebleeds; abnormally heavy or
prolonged menstruation; easy bruising; recurrent anemia; and abnormal bleeding
after surgery, dental work or childbirth.[1] Platelet storage pool deficiencies may be
genetic or acquired (non-genetic). They can also be part of an inherited
genetic syndrome such as Hermansky-Pudlak syndrome,Chediak-Higashi
syndrome, thrombocytopenia-absent radius (TAR) syndrome, and Wiskott-Aldrich
syndrome. Treatment is symptomatic.[2][1][3]
Haemophilia also spelled hemophilia, is a mostly inherited, genetic disorder that impairs the body's ability
to form blood clots, a process needed to stop bleeding when a blood vessel is broken.[1] There are two main
types, haemophilia A and haemophilia B. Haemophilia A is due to a deficiency in clotting factor VIII and is the
most common type, present in about 1 in 5,000–10,000 male births. [2] Haemophilia B is due to a deficiency
in factor IX and occurs in around 1 in about 20,000–34,000 male births. A third typehaemophilia C due to a
deficiency in factor XI, is a rare, mild form that can affect both sexes.
Wiskott-Aldrich syndrome is characterized by abnormal immune system function (immune
deficiency) and a reduced ability to form blood clots. This condition primarily affects males.
Individuals with Wiskott-Aldrich syndrome have microthrombocytopenia, which is a decrease in
the number and size of blood cells involved in clotting (platelets). This platelet abnormality,
which is typically present from birth, can lead to easy bruising or episodes of prolonged bleeding
following minor trauma.
Wiskott-Aldrich syndrome causes many types of white blood cells, which are part of the immune
system, to be abnormal or nonfunctional, leading to an increased risk of several immune and
inflammatory disorders. Many people with this condition develop eczema, an inflammatory skin
disorder characterized by abnormal patches of red, irritated skin. Affected individuals also have
an increased susceptibility to infection. People with Wiskott-Aldrich syndrome are at greater risk
of developing autoimmune disorders, which occur when the immune system malfunctions and
attacks the body's own tissues and organs. The chance of developing some types of cancer,
such as cancer of the immune system cells (lymphoma), is also greater in people with Wiskott-
Aldrich syndrome.
DISORDERS IN WHICH PLATELETS PLAYS A KEY ROLE”:
Atherosclerosis is a disease in which plaque builds up inside your arteries. Arteries are blood vessels that carry
oxygen-rich blood to your heart and other parts of your body.
Plaque is made up of fat, cholesterol, calcium, and other substances found in the blood. Over time, plaque hardens
and narrows your arteries. This limits the flow of oxygen-rich blood to your organs and other parts of your body.
Atherosclerosis can lead to serious problems, including heart attack, stroke, or even death.
Coronary artery disease (CAD) is the most common type of heart disease. It is the leading cause
of death in the United States in both men and women.
CAD happens when the arteries that supply blood to heart muscle become hardened and narrowed.
This is due to the buildup of cholesterol and other material, called plaque, on their inner walls. This
buildup is called atherosclerosis. As it grows, less blood can flow through the arteries. As a result, the
heart muscle can't get the blood or oxygen it needs. This can lead to chest pain (angina) or a heart
attack. Most heart attacks happen when a blood clot suddenly cuts off the hearts' blood supply,
causing permanent heart damage.
Over time, CAD can also weaken the heart muscle and contribute to heart failure and arrhythmias.
Heart failure means the heart can't pump blood well to the rest of the body. Arrhythmias are changes
in the normal beating rhythm of the heart.
Myocardial infarction (MI) or acute myocardial infarction (AMI), commonly known as a heart attack, occurs
when blood flowstops to a part of the heart causing damage to the heart muscle. The most common symptom
is chest pain or discomfort which may travel into the shoulder, arm, back, neck, or jaw. Often it is in the center
or left side of the chest and lasts for more than a few minutes. The discomfort may occasionally feel
like heartburn. Other symptoms may include shortness of breath, nausea, feeling faint, a cold sweat, or feeling
tired.[1] About 30% of people have atypical symptoms,[2] with women more likely than men to present atypically.
Cerebrovascular disease refers to a group of conditions that affect the circulation of blood to the brain,
causing limited or no blood flow to affected areas of the brain.
Atherosclerosis is one of the conditions that can cause cerebrovascular disease. During this process,
high cholesterol levels coupled with inflammation in areas of the arteries in the brain can cause the
cholesterol to build up in the vessel in the form of a thick, waxy plaque. This plaque can limit, or
completely obstruct, blood flow to the brain, causing a stroke, transient ischemic attacks, or dementia,
which may lead to a variety of other health complications.
The most common forms of cerebrovascular disease are cerebral thrombosis (40% of cases) and
cerebral embolism (30%), followed by cerebral hemorrhage (20%).
A stroke is a "brain attack". It can happen to anyone at any time. It occurs when
blood flow to an area of brain is cut off. When this happens, brain cells are deprived
of oxygen and begin to die. When brain cells die during a stroke, abilities controlled
by that area of the brain such as memory and muscle control are lost.
Cerebrovascular accident: The sudden death of some brain cells due to lack of oxygen when the blood flow
to the brain is impaired by blockage or rupture of an artery to the brain. A CVA is also referred to as a stroke.
Claudication, which is defined as reproducible ischemic muscle pain, is one of the most common manifestations of
peripheral arterial occlusive disease (PAOD) caused by atherosclerosis. Claudication occurs during physical activity and
is relieved after a short rest. Pain develops because of inadequate blood flow.
