LATEST ARTICLES

Marfan Syndrome (MFS)

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A 21-year-old male presents to medicine OPD with complain of vague chest pain on and off lasting for 5 minutes for past 2 months. He is recently finding difficulty in vasion as well. On examination, patient was tall stature with thin and long extremities. lamp examination of eye revealed upward dislocation of lens in left eye. He also cardiac involvement in form of aortic regurgitation. Patient was suspected to have Marfan syndrome and was worked up.

QUESTIONS

Q.1. What is the molecular defect in Marfan syndrome?

Q.2. What are the systems commonly involved in Marfan syndrome?

Q.3. Emphasize the role of fibrillin glycoprotein.

Explanations

Ans 1. Marfan syndrome (MFS) is due to mutation of gene (FBNI) which encodes the connective tissue protein fibrillin 1. It is an autosomal dominant condition with a reported incidence of 1 in 3000 to 5000 individuals making it one of the most common inherited disorders.

Ans.2. Following systems are commonly involved in Marfan syndrome:

  1. Ocular
  2. Cardiovascular
  3. Musculoskeletal.

Upward subluxation of lens associated with cataract, thin tall extremities will long slender fingers, high-arched palates are characteristic finding. Thumb sign is positive when on making the fist, thumb protrudes out. Wrist sign is positive when on holding the wrist with other hand, thumb overlaps the fingers.

Chest deformity is also associated in form of pectus carinatum. Cardiovascular involvement is also seen and patient may have aortic regurgitation and mitral valve prolapse.

Ans 3. Fibrillin 1 is a glycoprotein which is an important component of extracellular matrix of connective tissue. These glycoproteins interact with other component in extracellular matrix and play very important role in making elastic and nonelastic fibers in extracellular matrix, thus have important role in tissue development, repair and homeostasis.

In addition to their structural role these fibrillins also play an important role in growth factor signaling and immune response.

A 21-year-old male presents to medicine OPD with complain of vague chest pain on and off lasting for 5 minutes for past 2 months. He is recently finding difficulty in vasion as well. On examination, patient was tall stature with thin and long extremities. lamp examination of eye revealed upward dislocation of lens in left eye. He also cardiac involvement in form of aortic regurgitation. Patient was suspected to have Marfan syndrome and was worked up.

An interesting case study: Thalassemia

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An 8-year-old child who is a known case of B-thalassemia major on repeated blood transfusion is presenting with typical facial features comprising of frontal bossing, depressed cranial vault, maxillary widening, with saddle nose. On examination, he was found to be icteric Peripheral smear shows typical hypochromic microcytic anemia with teardrop-shaped RBC.

Children with typical “Chipmunk facies” in thalassemia

QUESTIONS

Q.1. What is the etiopathogenesis of thalassemia?

Q.2. How many clinical variants of thalassemia exist?

Q.3. What is the name given to specific facies of this child?

Explanations

Ans 1. Thalassemia is due to defect in biosynthesis of a or B-globin chain synthesis resulting in unbalanced accumulation of B and a-globin chain respectively. This is respectively called a-thalassemia and B-thalassemia.

The mutation which causes B-thalassemia may affect any of the following globin chain synthesis impairing its production:

a. Transcription of gene

b. Post-transcriptional modification of mRNA

c. Translation

d. Post-translational modification

In most cases it is either the defect in splicing of mRNA or premature termination of translation.

Ans 2. B-thalassemia may be homozygous or heterozygous. There are three clinical variants of homozygous ß-thalassemia based on severity of presentation:

a. Thalassemia major

b. Thalassemia intermedia

c. Thalassemia minor

B-thalassemia minor is mild and usually asymptomatic, the only manifestation is hypochromic, microcytic anemia. B-thalassemia major patients are born healthy but they become symptomatic with anemia, hepatosplenomegaly, growth retardation, jaundice and bone changes which usually develop within the first year of life, thus making regular blood transfusion and iron chelation therapy necessary for survival.

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