Marfan Syndromme Is a Multisystem Term Paper

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This became more so with the advancement of molecular Biology Tests. Subsequently a group of clinicians met in Ghent Belgium and came up with the current diagnostic criteria known as the Ghent Nosology. (De Paepe et al. 1996) Similar to the Berlin Nosology the Ghent criteria was based on clinical findings in the various organ systems as well as the nature of family history and relationships, a major criteria was classified as which has a high diagnostic specificity because it was less frequent in other conditions and in the general population. A point of divergence from the Berlin Nosology was the conversion of minor criteria in the skeletal system into major criteria. For one to be diagnosed with Marfan's the patient must have a first degree relative diagnosed with the disease in addition two systems must be involved with one having a major sign. In the absence of a family history or genetic criteria three systems have to be involved two with major signs. In addition with the Ghent nosology there was a major demarcation between a major criterion being present and the system being involved (De Paepe et al. 1996). The Ghent Nosology was divided into seven systems. Skeletal Ocular, Cardiovascular, Pulmonary, Cutaneous, Dura Mater, and Genetic. Major clinical signs in this criteria with regard to the skeletal system include Pes carinatum or Pes excavatum requiring surgery, Upper segment to lower segment or an arm span ratio of greater than 0.5. wrist or thumb sign. Scoliosis of > than 20 degrees or spondylolisthesis. Acetabulum protrusion. Flat feet and elbow extension of less than 170 degrees. Contrary to the previous system lumbosacral ectasia has been included as a major criteria in the Dura Mater system. A direct parent meeting the diagnostic criteria, Mutation of FBN1 gene known to cause Marfan or the presence of a genetic marker that is close to FBN1 and is transmitted with the disease in the family is also regarded as major criteria. As previously the presence of a major criteria does not necessarily mean system involvement. More stringent measures were put in place. With regard to the skeletal system a system is involved if there is presence of at least four major clinical signs. Involvement in the ocular system means presence of at least 2 minor signs. The cardiovascular, the pulmonary, and the cutaneous are involved if the is presence of at least one minor sign respectively. While the dura mater is involved if there is presence of at least one major sign.

Treatment.

In General all patients with Marfan's syndromme should have their physical activity restricted, they should also be put on prophylaxis for endocarditis. In additional they should have an annual echocardiography check up and be put on treatment with Beta Blocking agents. The mainstay of therapy in management of the cardiovascular system is the use of Beta Blockers. This was discovered in the early 1970's where the use of Beta Blockers was found to reduce the incidence of developing aortic dissection. In addition Beta blockers retard aortic growth in both children and adults (McKusick, 1972) and ( Shores et al., 1994). In children an annual echocardiography is recommended. When the diameter of the aortic root is greater than 5 cm prophylactic surgery is highly recommended. Furthermore the success rate of Surgery has greatly improved with very minimal mortality rates reported. (McDonald et al. 1981) ACE inhibitors or Angiotensin converting enzyme inhibitors have also been found to improve the condition of patients with Marfan's syndromme. They have been found to reduce central arterial pressures and aortic stiffness. Progesterone and Estrogen therapy has also been found to reduce the patient's height if therapy is begun before puberty.

Patients with Marfan's may also require Orthopaedic surgery, ophthalmic surgery and treatment Pneumothorax surgery as well as genetic counselling. Finally these patients may also need psychiatric evaluation.

DISCUSSION

Diagnosis of Marfan syndromme is to say the least challenging. A multidisplinary approach is required. An orthopaedic specialist, a cardiologist, an ophthalmologist a geneticist, a radiographer and a specialist nurse are part of the team involved in the diagnosis of Marfan. Engaging this myriad of specialists can be costly to the sufferers of Marfan syndromme.

To diagnose Marfan the entire FBN1 gene has to be screened. This process is expensive and is only available privately even in developed countries. Furthermore genetic testing has a success rate of 70-80% and cannot wholly exclude marfan's.

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Skeletal features of Marfan's syndromme can be difficult to define.. The graphs define upper and lower body ration are age dependent and are not commonly available. Moreover they only provide mean values without standard deviation making their interpretation challenging. The usefulness of span greater than height has been put into question in the diagnosis of marfan's syndromme. (Schott, 1992) the concept which was a trademark with Leonardo da Vinci allows man to be assessed or portrayed in a square. However anthropometric studies have revealed that span exceeds height by a value of 59-78% in the normal adult population. In addition assessing whether pes carinatum or pes excavatum is mild moderate or severe is difficult clinically. Similarly features that commonly lead to referral like a tall thin body are not included in the diagnostic criteria neither can they be used to discriminate against patients with marfan's syndromme.

It is also important to note that the progress and appearance of symptoms of Marfan's over time makes the diagnosis difficult. All features do not appear at once and evolve over time from child hood to adolescence.

There are conditions have clinically presented themselves like marfan's syndromme and have clinical diagnosis a difficulty. For Instance the MASS syndromme. (Glebsy and Pyeritz 1989) This disease presents with Mitral Valve Prolapse. This is a situation where the mitral valve of the heart closes properly but allows blood to regurgitate into the heart during ventricular contraction. The diameter of the Aortic root may be towards the upper limit of normal however there is no progression to an aneurysm neither is there development of aortic dissection. There are also Stretch marks of the skin that are unrelated to weight gain. Finally the disease presents with skeletal features of marfan's like scoliosis joint hyper mobility. MASS syndromme is a connective tissue disorder. It is inherited in an autosommal dominant pattern and is associated with mutations of Fibrillin 1 gene. FBN1. Family history may be positive however patients with MASS syndromme never develop dislocation of the lens or aortic root enlargement. Another condition is Stickler syndromme or Hereditary athroopthalmopathy (Stickler et al. 1965) This disorder is also multisystem. Its diagnosis requires the eye. Craniofacial and another system should be affected. Salient features of this disease include myopia degeneration of the retina and the vitreous, detachment of the retina, deafness athropathies, hyper mobility of the joints facial hypoplasia and microganathia. Most of these features are shared with Marfan's syndromme . In Shprintzen -- Goldberg syndromme (Shprintzen and Goldberg 1982) there are skeletal changes that are suggestive of Marfan syndromme. However these patients have craniosynostosis and neurodevelopmental abnormalities. In addition aortic dilatation may be present. Other conditions are Congenital Contractual Arachdinodactyly (Viljoen 1994)

.Familial Aortic Dissection,( Nicod et al. 1989) Familial Ectopic lentis (Tsipouras et al. 1992) and Familial Marfan like Habitus ( Milewicz et al. 1995)

In some countries or some clinical setting either the Ghent criteria or the Berlin Nosology is still employed in diagnosis. Prior to advancement of molecular biology diagnosis of Marfan's depended on the Berlin Nosology. However this criteria was not strict in its approach and at times lead to over diagnosis of patients with Marfan's syndromme. (Pereira et al. 1994) This was further emphasised by ( Rose et al. 2000) in this study 19% of patients who were diagnosed under the Berlin Nosology failed to pass the test of the Ghent nosology. In addition this study came up with an interesting finding. Dural ectasia was found to be the second most common major diagnostic manifestation. It was found out that screening for dural ectasia established the diagnosis of Marfan of syndromme in 23% of patients under the Ghent Nosology.

Another glaring weakness of the Berlin Nosology was that it encouraged the diagnosis of Marfan using non-specific criteria once the diagnosis of Marfan was made in a first degree relative. In this scenario the only requirement for a diagnosis to be made was the identification of a trait commonly seen in Marfan patients in two organ systems. Problems of over diagnosis and Misdiagnosis arose. The present proposal is more stringent in that, in addition to a family history of Marfan syndrome (which still means identification of an individual in the family who independently satisfies diagnostic criteria on clinical grounds alone), the presence of a major clinical manifestation and involvement of a second system are required for definitive diagnosis......

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