These filaments are called microfibrils and are located in the extracellular matrix throughout the body. Additionally, they store transforming growth factor (TGF) which is released at various times in order to control the growth and repair tissues and organs throughout the body (National Organization for Rare Disorders).In addition to this, microfibrils form longer connective tissue fibers responsible for providing strength and elasticity. The FBN1 gene mutation lowers the amount of available fibrillin-1. This causes the decrease in microfibrils formation and results in excessive connective tissue growth and its instability. As connective tissue is found in all parts of the body, various organs are affected. However, the condition most often affects cardiovascular, ocular and skeletal systems (Finley, 2013). The expression of Marfan syndrome can become apparent anytime between infancy and adulthood and depending on the onset and severity of signs and symptoms, it can be fatal early in life, but the majority of affected individuals survive into mid- to late adulthood (National Organization for Rare Disorders, n.d.).
Symptoms of Marfan syndrome vary among affected patients. While some individuals express only mild symptoms, others develop serious conditions followed by great complications. The symptoms usually spontaneously exacerbate over the course of years. However, if expressed during infancy, the condition often quickly affects multiple organ systems early in life (National Organization for Rare Disorders, n.d.). According to the Mayo Clinic (n.d.), symptoms of the Marfan syndrome include: (1) Tall and slender build, (2) Disproportionately long arms, legs, fingers and toes, (3) A breastbone that protrudes outward or dips inward, (4) A high, arched palate and crowded teeth, (5) Heart murmurs, (6) Extreme nearsightedness, (7) An abnormally curved spine and (8) Flat feet. Due to the multi-systemic nature of the disease, to establish the diagnosis of Marfan syndrome is like piecing together a puzzle (Radke & Baumgartner, 2014).
