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1 (CO1): One- Page Presentation the clotting agents used to treat bleeding in some persons with
Group 1: Hemophilia
Overview about the disease
Hemophilia is a bleeding disorder that is frequently
hereditary. This can result in both spontaneous and post-injury or
surgical bleeding. Many proteins known as clotting factors are
found in blood and can aid in the prevention of bleeding.
Hemophiliacs have low amounts of factor VIII (factor 8) or factor
IX (factor 9). The quantity of factors in a person's blood
determines how severe their hemophilia is. The lower the level of
the factor, the more probable bleeding will occur, which might
result in major health issues. Hemophilia can occur later in life in
rare situations. The majority of instances involve persons in their
forties or fifties, or young women who have recently given birth
or are in the last stages of pregnancy. With the right therapy, this
illness may usually be cured. Minor cuts are typically not a big
deal. If you have a severe case of the disease, the biggest concern
is internal bleeding, particularly in your knees, ankles, and elbows.
Internal bleeding can harm your organs and tissues, putting your
life in jeopardy.
Etiology
When a person bleeds, the body usually gathers blood
cells into a clot to stop the bleeding. Clotting factors are proteins
in the blood that help platelets form clots by interacting with them.
When a clotting factor is lacking or the levels of the clotting factor
are low, hemophilia develops. Hemophilia may be acquired or
congenital.
The defective gene is found on the X chromosome in the
most common kinds of hemophilia. One from each parent,
everyone has two sex chromosomes. Females receive one X
chromosome from their mother and one from their father. Males
inherit the mother's X chromosome and the father's Y
chromosome.
This implies that hemophilia nearly invariably affects
boys and is handed down the generations from mother to son via
one of the mother's genes. The majority of women who carry the
faulty gene show no indications or symptoms of hemophilia.
However, if their clotting factors are considerably reduced, some
carriers may experience bleeding symptoms.
Risk factors
Hemophilia is usually inherited, meaning a person is born
with the disorder (congenital). Some people develop hemophilia
with no family history of the disorder. This is called acquired
hemophilia and it can be associated with the following: pregnancy,
autoimmune conditions, cancer, multiple sclerosis, and drug
reactions.
The biggest risk factor for hemophilia is to have family
members who also have the disorder. Males are much more likely
to have hemophilia than are females. This means that hemophilia
almost always occurs in boys and most women with the defective
gene are carriers who have no signs or symptoms of hemophilia.
Complications
There are multiple complications alongside hemophilia,
this includes deep internal bleeding which is bleeding that occurs
in deep muscle can cause the limbs to swell. The swelling can press
on nerves and lead to numbness. Depending on where the bleeding
occurs, it could be life threatening. Another one is bleeding into
the throat or neck, which can affect the person’s ability to breath.
Also, damage to joints - Internal bleeding can put pressure on the
joints, causing severe pain. Left untreated, frequent internal
bleeding can cause arthritis or destruction of joints. In addition is
infection, if the clothing factors used to treat hemophilia come
from human blood, there’s an increased risk of viral infections
such as hepatitis C. Adverse reactions to clotting factor treatment
may also occur since the immune system may reacts negatively to
severe hemophilia. When this happens, the immune system
produces proteins that prevent the clotting factors from operating
properly, reducing the effectiveness of therapy.
Pathophysiology
When a blood vessel is damaged, three mechanisms work
together to aid repair. To restrict the amount of blood loss, the
blood vessel constricts first. Second, at the site of damage,
circulating platelets form a plug. After that, the blood is
coagulated. For coagulation to occur, a number of clotting factor
proteins, designated by Roman numerals, must be activated in a
certain order. The platelet plug is maintained by a fibrin matrix
that forms across its surface throughout this process, allowing the
vessel wall to mend.
Factors VIII and IX are just two of the 13 proteins
involved in the coagulation cascade process. If any of these
proteins are missing or deficient, the coagulation process will
begin but not finish: the platelet plug will remain unstable, and
bleeding will persist for an extended length of time.
Symptoms
The symptoms can be seen or felt in varying aspects of
the body. In General, weakness and orthostasis (related to
anemia/hypovolemia secondary to bleeding). In Musculoskeletal
(joints), the patient may feel tingling, cracking, warmth, pain,
stiffness, and refusal to use the joint for young children. For the
Central Nervous System (CNS), headache, stiff neck, vomiting,
lethargy, irritability, and spinal cord syndromes may occur.
Gastrointestinal (GI) has hematemesis, melena, frank red blood
per rectum, abdominal pain. Other symptoms may include
epistaxis, oral mucosal hemorrhage, hemoptysis, dyspnea
(hematoma leading to airway obstruction), compartment syndrome
symptoms, contusions, excessive bleeding with routine dental or
other procedures.
Simple management
In managing hemophilia, always note that “prevention is
better than cure”. Therefore, there are things that should be
avoided, such as: bruising, bleeding (internal and external),
injuries (including muscle and bone injuries), intake of medicine
which promotes bleeding (nonsteroidal anti-inflammatory
drugs/NSAIDs commonly aspirins), and dental and gum problems.
Also, the patients should:
- Be more careful when doing physical activities and
exercises to avoid injuries of any kind.
- Receive special care before undergoing into surgery.
Doctors may advise factor replacement infusion (factor
VIII & IX). Infusion could also be done during and after
the surgery to maintain the clotting factor levels, to
improve healing and prevent excessive bleeding.
- Perform self-care efficiently and have good body hygiene
especially dental hygiene.
- Get immunizations under the skin instead of in the
muscle to prevent bleeding in the muscle.
- Have some knowledge in performing first aid.
- Keep in touch with a hematologist.
Sources:
https://www.nursingtimes.net/clinical-
archive/haematology/haemophilia-pathophysiology-and-
management-14-10-2003/
https://www.mayoclinic.org/diseases-
conditions/hemophilia/symptoms-causes/syc-20373327
http://hemophiliaphilippines.org/support/
https://www.hopkinsmedicine.org/health/conditions-and-
diseases/hemophilia-in-children
https://emedicine.medscape.com/article/779322-clinical
https://www.cdc.gov/ncbddd/hemophilia/facts.html