Connective tissue ( CT ) join and separate different organ and tissues in the trunk . They are find in the body including CNS i.e. Central Nervous System and also meninges which is the out layer of central nervous system is made of these connective tissues . They are made up of proteins .
Connective tissue consist of cell , extrafibrillar ground substance and fibre . The cell of CT admit leucocytes , fibroblasts , mast cells , macrophage and adipocytes . A genetic disorder that affect the connective tissue is called Marfan syndrome .
Marfan syndrome was first name in 1896 and is named after Antoine Marfan . Marfan syndrome was draw as an autosomal dominant disorder .
What is Marfan Syndrome?
An integral upset that affects the connective tissues in the body is call Marfan syndrome . Marfan syndrome is because of the protein in the connective tissues .
The mutation of fibrillin-1 protein increase the TGF - β i.e. transform ontogeny factor beta protein , which disrupts the functioning of connective tissues . This leads to Marfan syndrome and some associated disorder .
Marfan syndrome can affect various parts of the body including middle , blood vessels , heart , pearl , joints , lung , skin etc . In U.S. , 1 in 5000 people is affected from this disorderliness .
Marfan syndrome can disrupt the functioning of aorta , an artery that supplies rake from the nub to the body . The inner layer of aorta may get ruptured get bleeding in the vessel , which may be lethal .
Signs and Symptoms of Marfan Syndrome
Marfan syndrome may not show prompt signs or symptom . They may evolve at any age and may get worse . However , they may vary from person to person . The signs and symptom of Marfan Syndrome include :
Other symptoms of Marfan Syndrome let in :
Prognosis and Life Expectancy of Marfan Syndrome
The average life expectancy of a person with Marfan syndrome is 45 year , if it is untreated . However , with right care there can be normal life anticipation .
Epidemiology of Marfan Syndrome
The happening of Marfan syndrome is estimated to be 1 in 5,000 in the US . In Europe , it is guess to be 3 in 10,000 . The prevalence of the upset is thought to be standardized globally .
Causes of Marfan Syndrome
The cause of Marfan syndrome is a faulty gene that outfit the body in give rise proteins , which helps in tone and increasing elasticity in connective tissue . The causes depart in dissimilar cases as the factor affects in different mode in different patients , which is called varying locution . Hence , the grounds of Marfan Syndrome can be divide as under :
The reason behind the varying expression of the cistron in Marfan syndrome is not yet understood and is being contemplate by the scientist .
Pathophysiology of Marfan Syndrome
The mutant in FBN1 gene on chromosome 15 leads to Marfan syndrome . The mutation of FBN1 gene encodes a glycoprotein call fibrillin-1 , which affects the strength and elasticity of connective tissues in the soundbox .
Transforming growth divisor genus Beta i.e. TGF- β play a critical role in Marfan syndrome . It binds straightaway to fibrillin-1 which invalid the biological action . This bind results into an incendiary reaction which releases proteases that degrades the snap and strong point of connective tissue .
How is Marfan Syndrome Inherited?
There are two copy of fibrillin cistron in everybody . The genetic mutation in any one factor run to Marfan syndrome in people . The normal transcript of fibrillin has unequal potential to compensate the activity of the mutate factor . Thus , at the clock time of conception either the mutate fibrillin or normal fibrillin is passed to the child from either of the parents . Hence , there is a 50 - 50 % opportunity of transfer the mutate fibrillin gene from the parent with Marfan syndrome to the child . However , the chromosomal mutation may take shoes during the formation of spermatozoan or egg cell , resulting into transmission of mutate fibrillin gene . Thus , the parent may not have Marfan syndrome , but the small fry may get sham and may spend to next genesis .
Diagnosis of Marfan Syndrome
The diagnosis of Marfan syndrome is not easy as it may evolve at any age . However , a careful interrogation by a squad of specialist doc can help in diagnose Marfan syndrome . The family history of Marfan syndrome is an important tool in identifying Marfan syndrome . The clinical diagnosis include :
Treatment & Management of Marfan Syndrome
The management of Marfan syndrome can be done as under :
Coping with Marfan Syndrome
Coping with Marfan syndrome maybe hard as it is a genetic disorder and it affects adult as well as their children . The grownup who may discover Marfan syndrome after in life , would be disturbed as they would enquire how it would affect their relationship , careers and if their tike would get affected or not .
Young adult suffering from Marfan syndrome may get self - witting about their appearance , motor attainment and donnish execution . Hence , some cosmetic concerns as well as emotional problems are to be deal by the parents , aesculapian professional and teacher . aesculapian care and societal support can help in coping with Marfan Syndrome for both the adult and child .
Famous People with Marfan Syndrome
Famous people who had Marfan syndrome include :
Though complex , it is essential to diagnose and negociate Marfan syndrome . However , the outlook of patients suffer from Marfan syndrome has amend since 1970s . This inspires further endeavor for treat Marfan syndrome .
