A Case Report on Marfan Syndrome

Marfan syndrome is an autosomal dominant disorder of a connective tissue that mostly caused by mutation in the FBN1, the gene encoding fibrinillin1. The people affected by the Marfan syndrome are tall, slender and it also affects the organs like skeleton, lungs, heart, eyes, and the large blood vessel. A case Report of Marfan syndrome has been reported with chronic obstructive airway disease which was treated and resolved. Dolly Keerthana. K, Srujana. K, Gummalla Pitchaiah* Department of Pharmacy Practice, QIS College of Pharmacy, Pondur Road, Vengamukkapalem, Ongole, Prakasam district, Andhra Pradesh, India – 523272. Submission: 21 October 2019 Accepted: 27 October 2019 Published: 30 November 2019 www.ijppr.humanjournals.com Citation: K, Gummalla Pitchaiah et al. Ijppr.Human, 2019; Vol. 16 (4): 193-197. 194 INTRODUCTION Marfan syndrome is also known as arachnodactyly. Marfan syndrome is an autosomal dominant disorder of a connective tissue that mostly caused by mutation in the FBN1, the gene encoding fibrinillin1. Marfan syndrome is a rare pleiotropic disease characterised by 3 clinical criteriathoracic, aortic, aneurysm and/or dissection; ectopia lentis and multisystemic manifestations. And the disease is also chacterised by 2 genetic criteria [1]. The Marfan syndrome affects all over the body. But, mostly it effects on skeleton, eyes, heart and the aorta. The people affected by Marfan syndrome are tall and slender. They are having arachnodactyly scoliosis and a pectus excavatum, pectus carniatum or ectopial lentio in eyes. Several cases are appeared due to sporadic mutation in a single germ cell of the parent [2].


INTRODUCTION
Marfan syndrome is also known as arachnodactyly. Marfan syndrome is an autosomal dominant disorder of a connective tissue that mostly caused by mutation in the FBN1, the gene encoding fibrinillin1. Marfan syndrome is a rare pleiotropic disease characterised by 3 clinical criteria-thoracic, aortic, aneurysm and/or dissection; ectopia lentis and multisystemic manifestations. And the disease is also chacterised by 2 genetic criteria [1]. The Marfan syndrome affects all over the body. But, mostly it effects on skeleton, eyes, heart and the aorta. The people affected by Marfan syndrome are tall and slender. They are having arachnodactyly scoliosis and a pectus excavatum, pectus carniatum or ectopial lentio in eyes.
Several cases are appeared due to sporadic mutation in a single germ cell of the parent [2].

Causes
It was generally caused due to randomly occur faulty gene in the sperm or egg. The gene that carries Marfan syndrome is FBN1. The FBN1 provides a protein called fibrinillin-1. this fibrinillin-1 provides strength and elasticity to the connective tissue. Most of the times the Marfan syndrome was inherited from the parents to children [3].

Signs and Symptoms
The signs of Marfan syndrome include abnormally long, slender or spidery fingers and toes.
Epidemiology Marfan syndrome was first observed in 5.5 year old girl in 1896 by a French pediatrician named Antonin Marfan. The minimal birth incidence is around 1 in 9800 i.e. the progressive aortic dilation, usually maximal at the sinus of Valsalva, associated with aortic valve incompetence leads to aortic dissection or rupture and is the principal cause of mortality. But mitral valve prolapsed with in competence may be significant, and lens dislocation, myopia and arthritis associated with chronic joint laxity can cause substantial morbidity [5].

Diagnosis
Marfan syndrome was usually diagnosed by Ghent nosology. Generally in a young patient tall, thin body habits, long limbs and pectus deformities was observed. Along with these, sometimes arched palate with dental deformities, recurrent hernia, and pneumothorax was also observed [6].

Treatment
Management involves beta blockers to decrease the blood pressure and to prevent progressive dilation of the aorta. Angiotensin-II receptor blockers help to slow down the aortic root dilation. A non surgical measure involves glasses or contact lenses for near-sightedness. Back brace for people with scoliosis. Surgery may also be necessary to replace a faulty heart valve or to repair eye abnormalities, retinal detachments or cataracts [7].

CASE REPORT
A sixty year old male reported to the department of general medicine with chief complaints of shortness of breath since 4 days, frequent sore throat and cough. His medical history revealed that he has suffered from osteoarthritis and COPD which was resolved. The family www.ijppr.humanjournals.com Citation: K, Gummalla Pitchaiah et al. Ijppr.Human, 2019; Vol. 16 (4): 193-197. 196 history of the patient was noncontributory. His social history revealed that he was smoker and alcoholic since 30 years. He is having poor oral hygiene along with that he is also having a cardiac disease.
The patient appeared tall stature with an average weight for his age and gender. He had disproportionately long arms and legs as compared with the track. Examination of his hands showed elongated fingers with thickened phalange joints. On examination of the foot it was revealed that he had flat feet with mild pronation along with elongated toes. Another finding was a subtly intended chest and mild hunching at back.

Investigations
The patient's lab data revealed abnormal hemoglobin levels i.e. 10gm/dl. His peripheral capillary oxygen saturation level (SPo2) was 90%. The ECG report shows inverted T-wave.

Differential Diagnosis
His long arms and legs, elongated fingers with thickened phalange joints represent Marfan syndrome. COPD was diagnosed by chest x-ray and arterial blood gas levels. The inverted Twave may represent the conditions like: cardiac ischemia, pulmonary embolism.

Treatment
On the day of admission the patient was treated with inj.deriphylline-2ml (300mg)-IV-twice daily, inj.hydrocortisone-100mg-IV-twice daily, Neb. Duolin+ Budecort combination was given in SOS (When Ever Necessary). Along with this medication he was advised with Tab.
Ranitidine-150mg -IV -twice daily. The treatment plan was continued for 10 days. On the very next day, he was prescribed with Tab. Escitalopram (10mg) + Clonazepam (0.5mg)once daily as he had a complaint of insomnia.

DISCUSSION
Marfan syndrome is one of the most common lethal disease and was inherited in Mendelian fashion. It is a condition which affects the quality of life and can lead the person to frustration and low self-esteem. High nasal airway resistance also increases the susceptibility to obstructive sleep apnea. The cardiac pathology in these patients increases the risk of 197 endocarditis. As there is no particular therapy to treat Marfan syndrome the only way is to manage the underlying symptoms [8].