Seven Signs Of Marfan Syndrome

 I will present a Pill of Knowledge on the seven signs of Marfan syndrome. What is this good for? If you are among those people who wonder if they could have a Marfan syndrome, these seven signs may be a help to find out. First, I will explain what is Marfan syndrome. Marfan syndrome is a rare disease with autosomal dominant inheritance. Marfan can cause lethal rupture of the main artery, which is the aorta. And Marfan can also lead to heart failure, blindness, and skeletal problems. Medical care in specialized centers today can prevent or mitigate complications of Marfan syndrome. So those with Marfan syndrome should definitely find a center for care. For Marfan care it is important to have an early diagnosis to protect you against complications.

 If a Marfan diagnosis is not established, the seven signs that we will talk about in the next couple of minutes may help you to estimate your personal probability of having Marfan syndrome. The presence of these signs may warrant a definitive diagnostic work-up for Marfan syndrome. The first sign of Marfan syndrome, we call it the 'thumb sign'. The thumb sign, we can see it in the upper panel of the picture. Does the entire nail of your thumb project beyond the ulnar border of your hand when you clench your hand without assistance? If yes, the thumb sign is positive. Second, the 'wrist sign' in the lower panel of the picture. Does the thumb overlap the terminal phalanx of your fifth digit when you grasp your contra-lateral wrist? If yes, the wrist sign is positive. If the thumb and the wrist signs are positive, both, on both of your arms, then you have 1 point for the Marfan signs. 

The second sign of Marfan syndrome is the funnel chest or pigeon chest. The funnel chest is also called 'pectus excavatum'. Does you chest have a caved-in or sunken-in appearance? If yes, you have 1 point. A pigeon chest or a pectus carinatum: Does your sternum protrude and stick out more than usual at the front? If yes, you have 1 point. The third sign of Marfan syndrome are stretch marks. Stretch marks also called 'striae atrophicae' or 'striae distensae': Do you have stretch marks that not result from pronounced weight changes or pregnancy? Are these stretch marks at atypical sites such as the mid back, lumbar region, the upper arm, axillary region or in the thighs? If yes, this is very typical of Marfan syndrome and you have 1 point. The fourth sign of Marfan syndrome is surgery of the thoracic aorta. Did you undergo surgery of the thoracic aorta? If you underwent such operation, you may still have a scar in the middle of your breastbone. 

So if you underwent such surgery, you have one other point for Marfan syndrome. The fifth sign of Marfan syndrome is a previous pneumothorax. A pneumothorax is a collapsed lung. Did you have an abnormal collection of air in the pleural space between the lung and the chest wall? Did you stay in a hospital for a couple of days with a chest tube or intercostal drain with pressure suction? If so, you have one more point for a previous pneumothorax. The sixth sign of Marfan syndrome is a family history of Marfan syndrome. Does someone in your blood kinship have a firm diagnosis of Marfan syndrome? If so, you have 2 points for Marfan. Finally, ectopia lentis is a highly suggestive sign of Marfan syndrome. Ectopia lentis is also called 'dislocated lenses', 'lens luxation' or 'lens subluxation'. Do you wear glasses for refractive correction?  Did you undergo eye-surgery with lensectomy with implantation of an artificial intraocular lens (IOL), or with contact lenses? This may be suggestive of ectopia lentis. If you have ectopia lentis, you have 4 points in the score for Marfan syndrome. 

For the results of the score, you need to sum up your points from the seven signs. The probability of having Marfan syndrome is 14% with 1 point, 57% with 2 or 3 points and 91% with 4 or more points. If you have some points from Marfan, you may consider meeting with a Marfan specialist. The more points you have, the more useful it may be to present to a Marfan specialist in order to rule in or to rule out Marfan syndrome. You want more information? If you want more information on the scientific foundation of the seven signs score, there is the publication that you can check out. If you want more information on the clinical signs of Marfan syndrome, there is another link where you can find further information. We hope that this was helpful. Thank you for visiting.