7 Symptoms of Marfan Syndrome

Marfan Syndrome was named after Antonin B. J. Marfan, a French pediatrician who discovered the disease in the 1930’s. It occurs in approximately 1 in 5,000 births and is an incurable disorder of the connective tissue. It’s a dominant trait linked to any of the 22 numbered chromosomes but it’s not linked to the sex chromosomes. A parent who has Marfan Syndrome has a 50 percent chance of passing the gene to his or her children but approximately 25 percent of those with Marfan Syndrome have no family history of the disease. Although Marfan’s isn’t inherently fatal, it can cause heart problems and therefore result in a shorter lifespan for some. Early diagnosis and treatment can prolong longevity.

Marfan Syndrome causes angular features along with abnormally long, thin limbs and digits. Additional signs and symptoms of Marfan Syndrome include:

Marfan Syndrome can appear at any age; it’s visible in some people at birth but may lie dormant in others until they are well into adulthood. Features can become more pronounced as the individual ages.

Early diagnosis ensures the optimal treatment regimen and outcome since early treatment can minimize the effects of the disease. Although some signs may not present until later in life and some signs may have other causes, when several of the symptoms present simultaneously, particularly if there is a family history of Marfan Syndrome, the individual should be tested for the presence of the disease. Even in the same family, no two individuals will present exactly the same.

Signs and symptoms of Marfan Syndrome may be concentrated in one part of the body or they be in may two or more areas. Individuals can have some symptoms of Marfan Syndrome but not enough to be diagnosed with the disease. Genetic testing can confirm or eliminate the presence of Marfan’s and may be combined with an echocardiogram, an electrocardiogram, an eye exam, and/or other tests such as a CT, or computerized tomography, scan, X-rays, or an MRI, or magnetic resonance imaging. Periodic tests for lung function may be recommended, particularly as the individual ages.

1. Back pain

Those with Marfan’s often have flat feet, which can contribute to back pain. Weak connective tissue throughout the body fails to provide the support needed for proper posture, which can result in back pain. Those who have a concave chest may experience back pain due to the unnatural position this causes in the shoulder muscles; this affects the pelvic tilt, which can adversely affect the sciatic nerve and cause severe back pain.

A curved spine, which can be kyphosis or scoliosis, is often associated with Marfan’s and can cause pinched nerves and back pain. It can also distort the posture, which can exacerbate other back pain.

Some individuals can have an enlarged ducal membrane, which can cause back pain. The ducal membrane surrounds the brain and spinal cord.