Genetic Anomalies and Functional Implications: A Case Study on
Ehlers-Danlos Syndrome
In partial fulfillment of the requirements in General Biology 2 Subject
A Case Study is Submitted and Presented
To Mr. Joniel N. Estremos General Biology 2 Teacher of
Maryknoll College of Panabo, Inc.,
Academic Year 2022-2023
AMIGO, Ian
BUSANO, Gilbert
ERALINO, Brian
PERALTA, Mark
CARISMA, Jhana
CENIA, Audrey
MEDALLA, Julienne
SAB, Trexie
TENIO, Rheanne
February 2024
Genetic Anomalies and Functional Implications: A Case Study on
Ehlers-Danlos Syndrome
INTRODUCTION: most instances, it is diagnosed
clinically, however, determining the
Pain is one of the main clinical
kind of EDS requires determining the
signs of EDS patients, which has been
gene that codes for the collagen or the
connected to declines in both physical
proteins that interact with it (Malfait et
and mental health-related quality of life
al., 2017). One of the main
as well as to disability, depression, and
characteristics of the hypermobile
anxiety. Although they can lead a
variant of Ehlers-Danlos syndrome is
normal life, they could experience
hypermobility, which is an abnormally
certain movement limitations.
wide range of joint movement seen in
The term Ehlers-Danlos is most cases of the condition.
derived from the clinical case reports Hypotonia, or weak muscle tone, is
of two physicians, namely: Edvard common in infants and kids with
Ehlers, a dermatologist in 1091 and hypermobility, which can impede the
Henri-Alexandre Danlos in 1908. Both development of motor abilities like
doctors correctly identified the clinical sitting, standing, and walking. Instable
characteristics of this particular and prone to dislocation, the loose
category of hereditary illnesses and joints cause persistent agony.
merged the relevant components of
the syndrome. In 1936, the term
Ehlers-Danlos syndrome was first Context
introduced (Parapia and Jackson,
The leading cause of EDS is
2008). A collection of inherited
genetic, and it is typically inherited.
connective tissue illnesses known as
The production and structure of
Ehlers Danlos syndrome (EDS) are
collagen are impacted by the
characterized by clinically occurring
congenital abnormalities linked to
hyperelasticity of the skin,
EDS, weakening connective tissues.
hypermobility of the joints, atrophic
Connective tissues are strengthened
scarring, and fragility of the blood
and made flexible by the essential
vessels (Cortini & Villa, 2018). In
protein collagen. The defective symptoms such as joint instability and
collagen in EDS can affect the skin, chronic discomfort can have a
joints, blood vessels, and internal significant negative influence on their
organs, leading to various symptoms. quality of life. Ensuring comprehensive
With unique clinical characteristics, care and addressing these challenges
EDS is divided into multiple is imperative (Lum et al., 2011). Due to
subgroups. There are several the possibility of consequences,
prevalent subtypes of EDS, including particularly in subtypes such as
vascular EDS (vEDS), kyphoscoliotic Vascular EDS, prompt identification
EDS (kEDS), hypermobile EDS and action are essential for managing
(hEDS), and classical EDS (cEDS) and avoiding severe health issues.
(Castori & Hakim, 2017).
More research is vital to
Due to the large variety of comprehend the various subtypes of
symptoms and individual EDS, advance diagnostic techniques,
heterogeneity, diagnosing EDS can be and create more potent therapies.
difficult. Clinical assessment, family Raising awareness among the general
history, and genetic testing are public and healthcare professionals is
frequently employed to make a equally crucial for early detection and
diagnosis. Since there is no known adequate treatment (Malfait et al.,
cure for EDS, treatment aims to control 2010).
symptoms and enhance quality of life.
Image 1
Physical therapy, pain management,
and surgical procedures may fall under
this category. Frequent medical
monitoring is usually necessary,
particularly for subtypes with a high
risk of significant consequences, such
as Vascular EDS (Byers et al., 2017).
EDS is a complex disorder that
necessitates a multidisciplinary
approach to diagnosis and treatment
since it affects numerous bodily
systems. For those with EDS,
Image 2 With the exception of the
common varieties, the majority are
quite uncommon. For example, the
EDS dysfibronectinemic type has only
been detected in one family, while the
EDS kyphoscoliotic type has only been
identified in approximately 60 cases
overall. It is crucial to remember that
the overall incidence of EDS is
Image 3
probably underestimated because
patients with milder presentations and
little joint or skin involvement may not
seek medical attention because they
do not have a clinically significant
illness. If they do, it may be difficult to
identify the minor indications and
Based on the EDS subtype, the symptoms, and genetic testing is
prevalence of Ehlers-Danlos syndrome neither recommended nor pursued
is estimated to be between 1 in 5000 (Miklovic & Sieg, 2023).
and 1 in 100,000, however this may be A collection of uncommon
underestimated. The precise incidence hereditary illnesses known as Ehlers-
of the various EDS subtypes is still Danlos syndrome (EDS) impacts
unknown. The majority of the data in connective tissues, mainly collagen.
our 2019 assessment of the literature Many biological components, such as
is based on the 1997 nosology when the skin, joints, blood arteries, and
genetic etiology was not yet a internal organs, depend heavily on
cornerstone for diagnosis. As a result, collagen. This set of illnesses has a
epidemiologic data based on the variety of clinical manifestations due to
revised 2017 classification system is distinct genetic abnormalities causing
scarce. The predicted prevalence of the disorders. The following are some
EDS classical type is 1 in 10000 to 1 in issues related to Ehlers-Danlos
20000. syndrome that have been studied:
Joint Hypermobility and for those with EDS. People learn how
Instability Joint hypermobility, or joints to alter their thought and behaviour
having a more comprehensive range patterns to improve their daily lives
of motion than usual, is joint in people through the application of CBT. People
with EDS. It may result in pain, joint with EDS may find it easier to manage
instability, and a higher chance of their discomfort, unpleasant emotions,
subluxations and dislocations. and poor emotional regulation when
Skin Abnormalities EDS they use CBT. CBT has shown
frequently manifests as skin-related promise in treating fibromyalgia,
problems. People may experience depression, and anxiety disorders
hyperelastic skin, which is prone to associated with EDS.
scarring and is easily bruised. Also,
For those with EDS,
some people may get thin, depressed
mindfulness-based stress reduction
scars called atrophic scars.
(MBSR) may also be beneficial to their
Delayed Diagnosis Medical
psychological health. People with
care for EDS patients is frequently
chronic illnesses may find that
delayed because of misdiagnosis or
practicing mindfulness meditation
underdiagnosis. Complications and
gives them more control over their pain
symptoms may worsen as a result of
and helps them deal with any
this delay.
challenges that may come up.
Limited Treatment Options
There is no known treatment for Lifestyle modifications
Ehlers-Danlos syndrome as of January Lifestyle modifications can be
2022. Physical therapy, symptom extremely helpful in the management
management, and addressing of EDS pain. Modifications include, but
particular problems are the main goals are not limited to, the following:
of treatment. -Improving work ergonomics (focused
on protecting joints and reducing pain)
Alternatives -Practicing good sleep hygiene
-Avoiding smoking
Psychological Approaches
-Maintaining a healthy body weight
Cognitive behavioural therapy
(CBT), in particular, may be beneficial
Nutritional supplementation Myofascial Release
Various supplements have been Stretches
shown to be effective in dealing with Acupuncture
some symptoms of EDS (issues with Epsom Salt Baths
joints, skin and blood vessels): Alternatives were vaguely
Calcium rejected; patients were mostly
Carnitine dependent on their ability to pay for
these alternatives strategies.
Coenzyme Q10
Glucosamine Proposed Solution
Magnesium
According to Mayo Clinic
Silica (2022), Ehlers-Danlos syndrome has a
Vitamin C currently unknown treatment, although
Before incorporating any form of medication can help you manage your
nutritional supplement into their symptoms and prevent more issues.
treatment regimen, people ought to Your doctor may recommend
consult with a doctor or pharmacist. medications to help you manage:
Pain. Over-the-counter pain
Muscle Relaxation medications such as acetaminophen
(Tylenol), ibuprofen (Advil, Motrin IB),
One possible source of some of
and naproxen sodium (Aleve) are the
the pain associated with EDS is
primary therapeutic options. Stronger
muscular spasms, which can result
drugs are only used to treat severe
from joint instability. Usually, this pain
injuries. Blood pressure. Because
is lessened by relaxing the muscles.
blood vessels are more brittle in some
Techniques to relax the muscles
varieties of Ehlers-Danlos syndrome,
include the following:
your doctor may recommend that you
Massage keep your blood pressure low to
Heat prevent stress on the vessels.
Ultrasound The doctor will recommend
Transcutaneous Electrical therapies for Ehlers-Danlos syndrome
Nerve Stimulation (TENS) to help you manage your symptoms
and avoid severe complications. The issues, whereas an orthopedist will
treatments that will be most effective monitor and treat musculoskeletal
for you are determined by what kind of pathologies. Often, a geneticist or
EDS you have and how your family medicine provider serves as the
connective tissues are damaged primary care provider, sending patients
(Cleveland Clinic, 2023). to specialized specialists.
Most typical Ehlers-Danlos syndrome Recommendation
(EDS) therapies are:
Implementing Ehlers-Danlos
Wear sunscreen and use Syndrome (EDS) research involves a
gentle soaps to protect your holistic strategy that addresses a
skin. variety of issues, including raising
Physical therapy can help awareness, encouraging teamwork,
improve the muscles between advancing clinical care, and driving
the joints in your body. research projects. One specific
Wearing braces for additional technique is to build dedicated EDS
joint support. clinics or centers of excellence, which
bring together diverse groups of
As stated by Miklovic (2023),
healthcare professionals such as
Any caretaker caring for a patient with
geneticists, rheumatologists, physical
Ehlers-Danlos syndrome should be
therapists, and mental health
updated on the disease's numerous
specialists. These facilities act as
consequences as well as potential
centers for comprehensive care,
prevention methods. Patients with
research, and education, giving
EDS should be treated and managed
patients access to advanced
using a multidisciplinary strategy that
diagnostic tools, specific treatment
focuses on preventing disease
programs, and continuous support
development and consequent
services. These centers can improve
consequences, as there is no cure.
patient outcomes by concentrating
Specialists typically manage specialist
knowledge and resources in one area,
care within the field in which the
as well as acting as platforms for
patient has a pathology.
clinical trials and translational studies.
A cardiologist, for example, will
monitor and treat cardiovascular
To address the problems approach including clinical
connected with Ehlers-Danlos assessment, family history, and
Syndrome (EDS) research and clinical genetic testing, particularly given its
care, extra steps can be done to variety of subtypes. The main goals of
improve progress and outcomes. A treatment are to manage symptoms,
key strategy is to encourage education with an emphasis on physical therapy,
and awareness programs for medical pain management, and occasionally
professionals, patients, caregivers, surgical procedures. There are
and others in the community. differences in the prevalence of EDS
among its subtypes, and the actual
This project includes developing
incidence can be exaggerated
educational materials, conducting
because of misdiagnosis.
conferences, and establishing training
programs to improve healthcare The necessity for greater public
professionals' understanding of EDS and healthcare professional
and their ability to identify and handle awareness is highlighted by the rarity
the disease. Furthermore, increasing of certain variants. In high-risk
public awareness of EDS can help subtypes such as Vascular EDS, early
minimize discrimination, promote early detection and treatments are essential
identification, and encourage people to to avoid serious health problems.
seek proper care. Although there isn't a treatment for
EDS at the moment, lifestyle changes
Conclusion
and psychological techniques like
In conclusion, Ehlers-Danlos cognitive behavioral therapy (CBT) can
Syndrome (EDS) affects many help people live better lives.
different body systems and connective
To further address the problems
tissues, making it a challenging
caused by EDS, greater research,
condition. The comprehension of the
advanced diagnostic methods, and the
genetic abnormalities causing
creation of stronger treatments are
hyperelastic skin, joint hypermobility,
necessary. In the field of Ehlers-
and other symptoms were made
Danlos Syndrome, collaborative plans,
possible by the historical context of its
such as specialized clinics and centers
detection by Ehlers and Danlos. EDS
of excellence, can improve patient
diagnosis necessitates a multimodal
care, research, and teaching even updated review. Seizure, 57, 1–4.
more.
https://doi.org/10.1016/j.seizure.2018.0
2.013
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