Case Study: Ehlers-Danlos Syndrome

Patient Information:

Name: Sarah W.

Age: 32 years

Gender: Female

Occupation: Office Manager

Marital Status: Married

Socioeconomic Status: Middle class

Presenting Complaints:

Sarah presented to the clinic with the following complaints:

Chronic joint pain, particularly in the shoulders, hips, and knees.

Frequent joint dislocations and subluxations, causing discomfort and functional limitations.

Easy bruising and delayed wound healing.

Skin hyperextensibility with a history of atrophic scars.

Recurrent gastrointestinal complaints, including abdominal pain and constipation.

Fatigue and frequent headaches.

Anxiety and depression due to the chronic pain and functional limitations.

History of Presenting Complaints:

Sarah’s symptoms began during her teenage years, but they have worsened progressively over the last five years. She reported an increased frequency of joint dislocations, which often occurred during routine activities, causing considerable pain and temporary disability. Her skin hyperextensibility had been present since childhood and was a noticeable concern for her due to its cosmetic impact.

Chief Complaints:

Severe joint pain and instability affecting daily activities.

Skin hyperextensibility and scarring.

Gastrointestinal issues.

Fatigue and headaches.

Emotional distress due to chronic symptoms.

Past Medical and Surgical History:

History of multiple joint dislocations and subluxations.

No significant surgical history.

No prior diagnoses of chronic illnesses.

Seasonal allergies.

Family History:

Sarah’s maternal aunt was diagnosed with Ehlers-Danlos Syndrome (EDS). No other significant family medical history noted.

Socioeconomic Status:

Sarah belongs to a middle-class family with access to health insurance and moderate financial resources.

Present and Pre-morbid Functional Status:

Sarah’s pre-morbid functional status was relatively normal, with occasional joint issues. Currently, she faces significant functional limitations due to joint instability and pain, affecting her ability to work and perform routine activities.

General Health Status:

Fair overall health with multiple chronic symptoms.

Vitals:

Blood Pressure: 120/80 mmHg

Heart Rate: 80 bpm

Respiratory Rate: 16 breaths/min

Temperature: 98.6°F (37°C)

Aggravating Factors:

Physical activity.

Stress.

Extreme joint positions.

Weather changes.

Easing Factors:

Rest.

Application of heat.

Gentle stretching exercises.

Examination:

Skin: Hyperextensible and atrophic scarring noted.

Musculoskeletal: Joint hypermobility with increased joint laxity, particularly in the shoulders, hips, and knees. Multiple subluxations observed during examination.

Neurological: No focal neurological deficits.

Gastrointestinal: Abdominal tenderness with no signs of obstruction or masses.

Psychological: Moderate anxiety and depression noted.

Cardiovascular and Respiratory: No significant findings.

Sleep and 24-hour Pattern:

Sleep: Poor quality due to pain and discomfort.

24-hour pattern: Symptoms relatively constant throughout the day.

Duration of Current Symptoms:

Worsening over the past 5 years, with the most recent episode lasting for the last 6 months.

Mechanism of Injury/Current Symptoms:

No specific injury precipitated the current episode. Symptoms appear to be related to the underlying connective tissue disorder.

Progression Since the Current Episode:

Symptoms have been progressively worsening, impacting daily life significantly.

Significant Prior History:

None related to the current complaints.

Previous Treatment:

Analgesics for pain management.

Physical therapy for joint stability and mobility.

Psychotherapy for anxiety and depression.

Diagnostic Tests/Imaging:

Genetic testing for EDS.

X-rays and MRI scans of affected joints.

Gastrointestinal imaging to rule out structural abnormalities.

Differential Diagnosis:

Ehlers-Danlos Syndrome (Classic Type).

Hypermobility Spectrum Disorder.

Rheumatoid Arthritis.

Fibromyalgia.

Anxiety and Depression.

Postural Observation:

Increased lumbar lordosis and joint hypermobility.

Precaution and Contraindications:

Exercise should be carefully monitored to prevent joint dislocations. Avoidance of activities that excessively stress joints is recommended.

Functional Movement Analysis (Sign):

Limited range of motion and joint instability during various functional movements.

Quick Screening Tests/Clearing of Additional Joint Structures:

Beighton Score used to assess joint hypermobility.

Range of Motion (ROM):

Joint hypermobility noted in multiple joints.

Special Tests:

None specific to EDS but relevant to joint stability and function.

Assessment:

Ehlers-Danlos Syndrome (Classic Type).

Chronic joint pain and instability.

Skin hyperextensibility.

Gastrointestinal symptoms.

Anxiety and depression.

Problem List/Complaints:

Joint instability and pain.

Skin hyperextensibility.

Gastrointestinal symptoms.

Psychological distress.

Treatment:

Pain management with non-opioid analgesics.

Physical therapy to improve joint stability and mobility.

Psychotherapy for anxiety and depression.

Genetic counseling.

Joint protection strategies.

Regular follow-up to monitor joint health.

Prognosis:

Chronic condition; symptoms may improve with management but may persist throughout the patient’s life.

Goals:

Reduce joint pain and instability.

Improve joint function and mobility.

Manage psychological distress.

Educate the patient on joint protection and self-care.

Interventions:

Medication management for pain.

Physical therapy and exercises.

Psychotherapy.

Support groups for patients with EDS.

Genetic counseling for family planning.

Patient Education:

EDS education.

Joint protection strategies.

Psychological coping techniques.

Medication and its side effects.

Patient/Family Education:

Family counseling for support.

Educate family on the nature of EDS.

Joint protection and assistance during flares.

Discharge Plan:

Continue physical therapy.

Regular follow-up appointments with rheumatology and genetics specialists.

Referral to a psychologist for ongoing emotional support.

Support group recommendations.

Medication management plan.

Leave a Reply

Your email address will not be published. Required fields are marked *