Marfan syndrome associated with type 1 diabetes and autoimmune thyroiditis in a 27 years old female patient - Case presentation

Abstract

Abstract Introduction: Marfan syndrome (MFS) is a genetically determined connective tissue disorder caused by a mutation in the FBN1 gene, located on chromosome 1, which regulates the production of the glycoprotein Fibrillin 1. This results in different connective tissue diseases, especially cardiovascular involvement. Objective: The aim of our presentation is the description of a case in which type 1 autoimmune diabetes and thyreoiditis coexists in a previously undiagnosed patient with MFS. Case presentation: A 27-years-old female patient presented to the emergency department with a 6 months long polyuria-polydipsia syndrome, with weight loss of -10kg. The onset of diabetes manifested with severe ketoacidosis (blood glucose=674 mg/dl, pH=7,036, urinary ketone bodies=159 mg/dl). Pathological laboratory findings include C-peptide=212 ng/ml, anti glutamic acid decarboxylase (GAD) = 5,1UI/ml, ATPO=558 UI/ml. Clinical features of MFS could be recognised, like dolicocephalic face with enophthalmus, height: 184 cm, weight: 40 kg with a BMI of 11,81 kg/m2 respectively 50 kg and 14,77 kg/m2 before weight loss; long limbs, arachnodactyly, kyphoscoliosis, mitral systolic murmur. Imaging procedures showed atrial septal defect with a 6 mm bidirectional shunt, the ascending aorta, the trunk and the aortic isthmus were dilated, mitral valve prolapse, tricuspid valve insufficiency and dilatation of the right heart cavities, interatrial septal aneurysm and pulmonary hypertension. The ECG showed a right branch block. Ophthalmologic examination confirms the lens subluxation. Discussion: The etiology of diabetes and thyroiditis has proven to be autoimmune. With the introduction of base-bolus insulin therapy glycemic control was obtained and beta-blocker treatment was started for the cardiac involvement. Summary: This particular case is unique due to the fact that associates two serious lifelong diseases. MFS should be considered on the basis of morphological characteristics, which requires further investigation due to its serious long term complications.