Differential Diagnosis for 16 y/o Female with Multiple Joint Pain, Back Pain, and Cardiovascular Symptoms
Single Most Likely Diagnosis
- Ehlers-Danlos Syndrome (EDS): This diagnosis is likely due to the combination of joint pain, back pain that easily cracks (suggesting joint hypermobility), and cardiovascular symptoms such as palpitations and tachycardia. EDS is a group of disorders that affect connective tissues supporting the skin, bones, blood vessels, and many other organs and tissues.
Other Likely Diagnoses
- Juvenile Idiopathic Arthritis (JIA): Given the long history of joint pain starting at a young age, JIA is a consideration. However, the presence of back pain that cracks and specific cardiovascular symptoms might lean more towards a connective tissue disorder.
- Marfan Syndrome: This genetic disorder affects the body's connective tissue and can lead to joint hypermobility, back pain, and significant cardiovascular issues, including palpitations and tachycardia due to aortic root dilatation.
- Anorexia Nervosa or Other Eating Disorders: With a BMI of 19, which is on the lower end of normal for many teenagers, and considering the age and gender of the patient, an eating disorder could contribute to or exacerbate symptoms like joint pain and cardiovascular issues due to malnutrition.
Do Not Miss Diagnoses
- Aortic Dissection or Aortic Aneurysm: Although less likely, given the patient's age, the presence of palpitations, tachycardia, and back pain could be indicative of a serious cardiovascular condition. These conditions are life-threatening and require immediate medical attention.
- Cardiac Arrhythmias: Conditions such as supraventricular tachycardia or other arrhythmias could explain the palpitations and tachycardia and might be related to or exacerbated by an underlying connective tissue disorder.
Rare Diagnoses
- Stickler Syndrome: A rare genetic disorder that can cause joint pain, eye problems, and hearing loss, with some forms affecting the heart.
- Loeys-Dietz Syndrome: A rare genetic disorder that affects the connective tissue in the body and can lead to problems with the blood vessels, joints, and other areas, including a high risk of aortic aneurysms.
- Osteogenesis Imperfecta: A condition characterized by bones that break easily, often with minimal trauma, and can also involve dental and hearing problems. While it primarily affects bones, it could be considered in the differential for a patient with a long history of joint and back pain.