HEMOPHILIA



HEMOPHILIA

• impaired body's ability to control blood clotting or coagulation

• lifelong condition with no cure (other than liver transplantation

Causes

• Hemophilia A is an X-linked genetic disorder involving a lack of functional clotting Factor VIII and represents 90% of hemophilia cases

• Hemophilia B is an X-linked genetic disorder involving a lack of functional clotting Factor IX It is less Severe but more uncommon than Hemophilia A.

• Hemophilia C is an autosomal recessive genetic disorder involving a lack of functional clotting Factor XI.

S & Sx

← vary, depending on severity of the factor deficiency and the location of the bleeding

← Once babies with hemophilia begin crawling and cruising, parents may notice raised bruises on the stomach, chest, buttocks, and back.

← The baby may also be fussy and may not want to reach for a cup, walk, or crawl.

← Other symptoms include:

-prolonged nosebleeds

-excessive bleeding from biting down on the lips or tongue

-excessive bleeding following a tooth extraction

-excessive bleeding following surgery

-blood in the urine (called hematuria)

Diagnosis

← complete blood count (CBC)

← prothrombin time (PT)

← activated partial thromboplastin time (APTT)

← factor VIII level, factor IX level

Treatment

← can be successfully managed with clotting factor replacement therapy — periodic infusions of the deficient clotting factor into the child's bloodstream.

← Between 14% and 25% of children with severe hemophilia A develop inhibitors (antibodies to the clotting factor). Their bodies view the clotting factor as a foreign substance and develop antibodies that block its clotting action. This can make the hemophilia difficult to treat. One method for overcoming the inhibitors is to increase the body's tolerance to the clotting factor by carefully infusing increasing amounts of the clotting factor over time.

← recombinant factor VII- activates another part of the coagulation process directly and bypasses the deficiencies

Preventing Problems

Encouraging healthy behaviors:

← exercise can strengthen muscles and help decrease bleeding from injuries;

← child's weight should also be managed properly, because excess weight can cause strain in regions of the body;

← medications

Acetaminophen (such as Tylenol)

Aspirin or NSAIDs lead to increased bleeding

LEUKEMIA

• production of abnormal WBCs

Forms of Leukemia

A. Lymphocytic leukemia

▪ Acute lymphocytic leukemia (acute lymphoblastic leukemia, ALL) It is the most common type of leukemia in young children.

• Chronic lymphocytic leukemia (chronic lymphoblastic leukemia, CLL) Most often, people diagnosed with the disease are over age 55. It almost never affects children.

➢ Hairy cell leujemia is sometimes considered a subset of CLL, but does not fit neatly into this pattern. About 80% of affected people are adult men. There are no reported cases in young children.

B. Myeloid

• Acute myeloid leukemia (acute myelogenous leukemia, AML) It occurs in both adults and children.

• Chronic myeloid leukemia (chronic myelogenous leukemia, CML) It affects mainly adults.

Risk Factors

• Exposure to very high levels of radiation

• Exposure tochemicals

• Chemotherapy

• Down syndrome

• Human T-cell leukemia virus-I (HTLV-I)

• Myelodysplastic syndrome

S & Sx

• Fevers or night sweats

• Frequent infections

• Feeling weak or tired

• Headache

• Bleeding and bruising easily

• Pain in the bones or joints

• Swelling or discomfort in the abdomen

• Swollen lymph nodes

• Weight loss

Pathophysiology

➢ Proliferation of immature WBCs

➢ IMMUNE- COMPROMISED STATE

➢ PRODUCTION OF RBC'S AND PLATELETS

➢ HYPERTROPHY OF THE BONE MARROW (BONE PAIN)

➢ ORGAN INFILTARTION

➢ HEPATOMEGALY

➢ SPLENOMEGALY

➢ RENAL INSUFFICIENCY

➢ HYPERURICEMIA

➢ ARHTRALGIA

➢ ICP (MENINGEAL INFILTRATION)

Diagnosis

• Physical exam

• Blood tests

• Biopsy

• Bone marrow aspiration

• Bone marrow biopsy

Treatment

• Chemotherapy

– By mouth

– By injection directly into a vein (IV or intravenous)

– Through a catheter

– By injection directly into the cerebrospinal fluid

• Biological therapy

• Radiation therapy

• Stem cell transplantation

Nsg Mgt

▪ Protect from Infection

▪ Prevent trauma and bleeding

▪ Conserve energy / oxygen supply

Hodgkin’s Disease

▪ also known as Hodgkin lymphoma, a type of lymphoma first described by Thomas Hodgkin in 1832.

▪ tumor of Reed-Sternberg cells

Risk factors

▪ Sex: male

▪ Ages: 15-40 and over 55

▪ Family history

▪ History of infectious mononucleosis or infection with Epstein-Barr

▪ Weakened immune system, including infection with HIV or the presence of AIDS

▪ Prolonged use of human growth hormone

• virus, the causative agent of mononucleosis

S & Sx

▪ lymphodenitis

▪ Hepato-spleenomegaly

▪ Pain

▪ Red-colored patches on the skin, easy bleeding and petechiae due to low platelet count

▪ Systemic symptoms

▪ Cyclical fever

▪ Coughing or shortness of breath

▪ Unexplained weight loss

▪ Loss of appetite

▪ Night Sweats

Stages

▪ Stage I. cancer is limited to one lymph node region or a single organ.

▪ Stage II. cancer is in two different lymph nodes, but is limited to a section of the body either above or below the diaphragm.

▪ Stage III. When the cancer moves to lymph nodes both above and below the diaphragm, but hasn't spread from the lymph nodes to other organs

▪ Stage IV. Affects not only the lymph nodes but also other parts of your body, such as the bone marrow or your liver.

Diagnosis

▪ Physical examination/Medical history

▪ Biopsy

▪ Blood tests

▪ Chest X-ray

▪ Computed tomography (CT or CAT) scan

▪ Magnetic resonance imaging (MRI) scan

▪ Gallium scan

▪ Positron emission tomography (PET) scan

▪ Laparotomy

Treatment

▪ Radiation

▪ Chemotheraphy

▪ ABVD - doxorubicin (Adriamycin ), bleomycin, vinblastine and dacarbazine.

▪ BEACOPP - bleomycin, etoposide, Adriamycin, cyclophosphamide, vincristine (Oncovin), procarbazine and prednisone.

▪ Stanford V, which consists of Adriamycin, vinblastine, mechlorethamine, etoposide, vincristine, bleomycin and prednisone.

MULTIPLE MYELOMA

▪ plasma cell myeloma, or as Kahler's disease after Otto Kahler

▪ Myeloma is literally an “oma,” or tumor, involving the “myelo,” or blood-producing cells in the bone marrow.

▪ Malignant disease of the mature form of B lymphocyte, the plasma cell. Plasma cell secretes immunoglobulin, proteins necessary for antibody production to fight infection.

Stages

1. MGUS (Monoclonal Gammopathy of Undetermined Significance) - myeloma cells build up very slowly in the bone marrow;earliest stage; monoclonal protein present; no underlying disease state

2. Smoldering or Indolent Myeloma – asymptomatic myeloma

3. Myeloma – symptomatic

Risk factors

▪ Age over 65

▪ Race

▪ Being a man

▪ Personal history of MGUS

▪ Family history of multiple myeloma

S & Sx

▪ CRAB - C = Calcium (elevated), R = Renal failure, A = Anemia, B = Bone lesions.

▪ Bone pain

▪ Infection

▪ Renal failure

▪ Anemia

▪ Neurological symptoms

Pathophysiology

[pic]

Diagnosis

▪ Blood tests

▪ high levels of proteins in the blood including M protein and other immunoglobulins (antibodies), albumin, and beta-2-microglobulin.

▪ CBC, high levels of calcium.

▪ Urine tests

▪ Bence Jones protein

▪ X-ray, MRI, CT Scan

▪ Biopsy

▪ Bone Density Testing

▪ Blood and urine protein electrophoresis

Treatment

▪ Chemotherapy

▪ Thalidomide and lenalidomide - angiogenesis inhibitors that prevent the growth of new blood vessels into a solid tumor.

▪ Bortezomib - proteasome inhibitor that targets certain proteins in cancer cells and may prevent the growth of tumors.

▪ Radiation to relieve bone pain

▪ High-dose chemotherapy with stem cell transplant - this treatment is a way of giving high doses of chemotherapy and replacing blood-forming cells destroyed by the cancer treatment.

DIC

• also known as consumptive coagulopathy

• normal coagulation is disrupted

• formation of small blood clots inside the blood vessels throughout the body

Pathophysiology

S& Sx

▪ Bleeding

▪ Clotting

Diagnosis

Severe cases with haemorrhage

• PT and APTT

Mild cases without bleeding

• PT, APTT, and platelet counts

Definitive diagnosis depends on the result of

• Thrombocytopenia

• Prolongation of prothrombin time and activated partial thromboplastin time

• A low fibrinogen concentration

• Increased levels of fibrin degradation products

Treatment

• Fresh frozen plasma (FFP), platelets, or packed red blood cells (PRBCs) can be given to both replace the depleted clotting factors and also to replace blood loss

• Cryoprecipitate

• Heparin

Idiopathic Thrombocytopenic Purpura

▪ Idiopathic means that the cause of the disease or condition isn’t known.

▪ Thrombocytopenic means there is a lower-than-normal number of platelets in the blood.

▪ Purpura are purple bruises caused by bleeding under the skin

▪ blood doesn’t clot as it should and is due to a low

number of blood cells called platelets

▪ the immune system treats your own platelets as if they were invaders in the body, attacking and destroying them.

Types

▪ Acute ITP

▪ Chronic ITP

Other Name for ITP:

▪ Immune thrombocytopenic purpura

▪ Autoimmune thrombocytopenic purpura

S & Sx

▪ Pinpoint red spots on the skin (frequently the legs) that can often be found in groups and may look like a rash (petechiae).

▪ Bruising or purplish areas on the skin or mucous membranes (purpura).

▪ Nosebleeds or bleeding from the gums

▪ Blood in the urine or stool

Treatment

▪ Medications

o Corticosteroids

o Intravenous immune globulin (IVIG)

o Anti-D

o Immunosuppressant drugs

o Experimental drugs

▪ eltrombopag

▪ AMG 531

▪ H. pylori treatment

▪ Surgery

o Splenectomy

POLYCYTHEMIA

▪ increase in the total number of blood cells, primarily red blood cells, in the body

▪ hematocrit is elevated (to more than 55% in males, more than 50% in females)

A. Polycythemia vera (Primary) - bone marrow makes too many red blood cells; a myeloproliferative disease

➢ Increase in blood viscosity, Increase in the total blood volume ,severe blood congestion of all tissues and organs

Risk Factors

1. Age

2. Sex

3. Family history

S & Sx

▪ Ruddy complexion

▪ Headache

▪ Dizziness

▪ tinnitus

▪ spleenomegaly

▪ fatigue

▪ paresthesia

▪ blurred vision

▪ angina/dyspnea

▪ pruritis

Pathophysiology

Diagnosis

▪ Blood test

▪ Bone marrow test

Treatment

▪ Phlebotomy

▪ Low dose aspirin

▪ Hydroxyurea or Anagrelide

▪ Therapy to reduce itching

B. Secondary Polycythemia

▪ Physiologic polycythemia

▪ normal adaptation to living at high altitudes

(occur in response to reduced amount of oxygen )

▪ caused by excessive production of erythropoeitin

Causes

- smoking

-renal or liver tumors

- hemangioblastomas in the CNS

- heart or lung diseases that results in hypoxia

- endocrine abnormalities

C. Relative Polycythemia

-apparent rise of the erythrocyte level in the blood; however, the underlying cause is reduced blood plasma

- often caused by loss of body fluids, such as through burns, dehydration and stress

THALASSEMIA

I. ALPHA THALASSEMIA

■ Caused by mutations in the Alpha chain of the hemoglobin molecule

■ Relative excess of beta chain due to impaired production of alpha globin

A. Alpha Thalassemia Major

▪ All four chain genes are deleted

B. Alpha Thalassemia carrier

▪ Two alpha chain genes are deleted (either cis- or trans-)

C. Hemoglobin H- disease

▪ 3 alpha chains are deleted

D. Silent alpha carrier

▪ 1 Alpha chain gene is deleted

II. BETA THALASSMIA

▪ Reduced or absent production of beta globin chains of hemoglobin

• Thalassemia-coined by pathologist George Whipple and the professor of pediatrics William Bradford

• Greek thalassa for sea and -emia, meaning the blood

Types

A. β thalassemia minor (β thalassemia trait)

▪ Only one β globin allele bears a mutation

a mild microcytic anemia

▪ “silent carriers”

B. Thalassemia Intermedia

C. β thalassemia major or Cooley's anemia

▪ both alleles have thalassemia mutations

▪ severe microcytic, hypochromic anemia

▪ Untreated, this progresses to death before the age of twenty

▪ The clinical picture associated with thalassemia major was first described in 1925 by the American pediatrician Thomas Cooley.

S & Sx

Mild and Moderate

▪ "silent carriers”

▪ mild anemia

Severe

– Fatigue and weakness

– Pale skin or jaundice (yellowing of the skin)

– Hepato-splenomegaly

– Dark urine

– Abnormal facial bones and poor growth

– A poor appetite

■ Dr. James V. Neel

– Autosomal recessive pattern

Diagnosis

▪ Microscopic analysis

▪ MCV - size

▪ MCH - weight

▪ Hb value – concentration of hemoglobin in the blood

▪ Electrophoresis – type of hemoglobin

Treatment

▪ Folic Acid Supplements

▪ Blood Transfusion

➢ Organ damage

o Iron overload due to blood transfusion over time

✓ Chelation Therapy- reduce the amount of iron in the body

❖ Desferal

❖ Exjade

▪ Stem cell transplant

[pic]

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Angina

Claudication

Dyspnea

Thrombophlebitis

Hyperviscousity

Headache

Dizziness

Tinnitis

Fatigue

Paresthesias

Blurred Vision

Blood clots

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Increased blood volume

POLYCYTHEMIA

(increase of RBC)

Donal Disorder

Outstrips other stem cells

Abnormal stem cell

Marrow stem cell and becomes

DNA mutates in

Risk Factors:

Age

Sex

Family Hx

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