Miguel is a 15-year-old male who presents for a sports physical. He is a healthy adolescent with no complaints. He plays basketball. He is 6 feet 5 inches tall and weighs 198 pounds. You note long arms and long thin fingers. He has joint laxity in his wrists, shoulders, and elbows.
This post examines case study 4: a 15-year-old male presenting with no major complaints. He has a significantly above average height of 6 feet 5 inches and has long arms and thin, long fingers. He also shows joint laxity in wrists, shoulders, and elbows. An explanation for these symptoms is discussed and differential diagnoses are noted. The final portion of the post examines a treatment and management plan for this patient.
This case is interesting as the patient has no complaints. Despite this, his height is far above average for his age and he has long arms and long thin fingers. Additionally, he has joint laxity, which is common in a number of connective tissue disorders and is associated with joint hypermobility (Dietz & Sakai, 2013). Joint laxity is generally associated with loose ligaments, which in a healthy individual are tight in a way that restricts the movement of the joints (Loeys et al., 2010).
Primary and Differential Diagnoses
Primary Diagnosis: Marfan Syndrome
Marfan syndrome is a genetic disorder that affects the connective tissue and can present in a variety of different severities (Loeys et al., 2010). Many people with Marfan syndrome are over average height because of the genetic profile causing the individual to have longer limbs, as seen in the patient (Dietz & Sakai, 2013). There are a number of different signs and symptoms that can be associated with Marfan syndrome. The main are associated with the skeletal syndrome, and include long fingers and limbs, as well as abnormal joint flexibility. In other cases, the health of the eye can be affected due to lens dislocation due to connective tissue weakness (Dietz & Sakai, 2013). In more severe cases, there is cardiovascular involvement that leads to fatigue, shortness of breath, or chest pain (Loeys et al., 2010). A mild case of Marfan syndrome is the most likely diagnosis here as the patient appears healthy aside from showing characteristic skeletal characteristics of Marfan syndrome.
Differential Diagnosis: Ehlers-Danlos Syndrome
Ehlers-Danlos syndrome is also an inherited disorder that affects the connective tissue. It occurs when there is a defect in the structure, production and processing in collagen or collagen-related proteins (Loeys et al., 2010). The affected collagen means that the normal strength of the skin, joints, muscles and some visceral organs is reduced (Loeys et al., 2010). The main symptoms are musculoskeletal and include hyper-flexibility, myalgia and arthralgia, and various finger deformities (Dietz & Sakai, 2013). This is less likely than Marfan syndrome as it does not explain the long limbs and extreme height of the patient, despite its relevance to the joint laxity.
Treatment and Management Plan
There is no treatment for Marfan syndrome but some precautions need to be taken. The first is to recommend regular check-ups with a cardiologist who can help identify any damage to the heart values and prevent aortic dilation (Bowen & Connolly, 2014). If blood pressure is high, then ACE inhibitors are recommended to help protect the cardiovascular system (Bowen & Connolly, 2014). It may be useful for the patient to take angiotensin II receptor antagonists as these can help to prevent aortic growth (Bowen & Connolly, 2014).
For other symptoms, the recommendation is that the symptom is treated as it would be in other disease. Pain medication and muscle relaxants can be prescribed if there are any issues. Physiotherapy would not be required in this patient as there are no complains, but may be an option in the future. This patient already engages in physical exercise and therefore this does not need to be a recommendation, although regular exercise is associated with the reduction of Marfan syndrome symptoms (Loeys et al., 2010).
- Bowen, J. M., & Connolly, H. M. (2014). Of Marfan’s syndrome, mice, and medications. New England Journal of Medicine, 371(22), 2127–2128.
- Dietz, H. C., & Sakai, L. Y. (2013). Marfan’s Syndrome and Other. Advances in Human Genetics, 22, 153.
- Loeys, B. L., Dietz, H. C., Braverman, A. C., Callewaert, B. L., De Backer, J., Devereux, R. B., … others. (2010). The revised Ghent nosology for the Marfan syndrome. Journal of Medical Genetics, 47(7), 476–485.