The Extremely Rare Marfanoid–Progeroid–Lipodystrophy Syndrome

The Extremely Rare Marfanoid–Progeroid–Lipodystrophy Syndrome


Marfanoid–progeroid–lipodystrophy syndrome (MPL) is also known as progeroid fibrillinopathy or Marfan lipodystrophy syndrome (MFLS).

It is an extremely rare medical condition which shows a variety of symptoms including those associated with “Marfan syndrome”.

The appearance of Marfanoid–progeroid–lipodystrophy syndrome’s patient resembles that of severe partial lipodystrophy and neonatal progeroid syndrome. The neonatal progeroid syndrome is also known as the “Wiedemann–Rautenstrauch syndrome”.

Causes of Marfanoid–progeroid–lipodystrophy syndrome

It is a genetic condition and is caused by the mutations in the FBN1 gene. The FBN1 gene is usually named as the “thin gene”. This gene normally encodes profibrillin and affects the cleavage products of profibrillin which are asprosin and fibrillin-1.

The studies show that the lipodystrophy associated with marfanoid–progeroid–lipodystrophy syndrome is caused by the loss of C-terminal domain cleavage product of a glucogenic protein hormone (known as asprosin) and profibrillin.

Asprosin is a protein hormone which is produced by mammals in their fatty tissues. It stimulates the functioning of the liver and releases glucose into the bloodstream. fibrillin-1 is a large fibrous structural protein. Till date, fewer than 10 cases of this condition are reported.

The study of unrelated patients having marfanoid–progeroid–lipodystrophy syndrome showed that all the mutations occurred in exon 64 of the FBN1 gene. All the patients with the condition are known to have the distinctive phenotype of a progeroid facial appearance. The clinical features of severe lipodystrophy were also found in all the individuals with this condition. This specific genotype/phenotype relationship is a new fibrillinopathy and is appropriately named as “marfanoid–progeroid–lipodystrophy syndrome”.

Medical Conditions Associated with MPL

Following medical conditions are associated with Marfanoid–progeroid–lipodystrophy syndrome:


The individuals with MPL experience “lipodystrophy”. It is defined as the loss of adipose tissues. During lipodystrophy, the body of the patient is unable to produce and maintain healthy fat tissue. This medical condition is the degenerative condition of the body’s adipose tissues. The people with MPL also shows loss of lean tissue mass which give them a “skinny” appearance.

Originally, it was thought that the lipodystrophy cause by MPL was generalized. However, it is confined to face, paravertebral, distal extremities and lateral regions of the buttocks.

Normal amounts of subcutaneous fats are found in some parts of the body such as torso over the abdomen and chest. The breasts of females with MPL are normal.

The Appearance of Premature Aging

The people with marfanoid–progeroid–lipodystrophy syndrome has an appearance of premature aging. This appearance is not due to the actual early aging but instead is due to their loss of subcutaneous fats.

Low Body Weight

The people suffering from marfanoid–progeroid–lipodystrophy syndrome have a deficient asprosin.

Asprosin is important for the functioning of the liver and the releases glucose into the bloodstream.

Due to the deficiency of asprosin, people with marfanoid–progeroid–lipodystrophy syndrome eat less and are unable to gain appropriate weight.

Insulin Resistance

The people suffering from marfanoid–progeroid–lipodystrophy syndrome is more likely to develop the symptoms of insulin resistance. The normal people having diabetes or obesity shows elevated levels of asprosin while in case of marfanoid–progeroid–lipodystrophy syndrome the level of asprosin is undetectable in the blood

Reduced Net Energy Balance

These people usually burn fewer calories than normal people and consume less. Therefore, the net energy balance of such people is moderately reduced.

The studies have shown various clinical features among the patients of marfanoid-progeroid-lipodystrophy (MPL) syndrome.

Eye Problems

Marfanoid–progeroid–lipodystrophy syndrome affects the eyes of people suffering from this condition. The studies show that tissue microfibrils form in the ocular zonule, and the tissue microfibrils are composed of fibrillins.

The people suffering from marfanoid–progeroid–lipodystrophy syndrome usually experience prominent ocular features such as enophthalmos, eyelid anomalies, ectopia lentis, and myopia.

Enophthalmos is defined as the displacement(posterior) of the eyeball within the orbit. It occurs because of the changes in the size of the eye bone orbit relative to the orbital fat and eyeball.

It can also occur because of the loss of function of the orbitalis muscle.

Eyelid anomalies are the abnormality of eyelids. The eyelids play an important role by lubricating, protecting and cleaning the ocular surface. Any kind of changes or abnormalities can cause the disruption of vision which requires modification or correction.

Ectopia lentis is defined as the malposition or displacement of the eyes’ lens from the normal position. Normally, the ciliary zonules hold the lens in its correct position but the abnormal development of these zonules lead to ectopia lentis.

Complete dislocation of the eye lens is termed as a luxated lens or lens luxation. A partial dislocation of the eye lens is called a subluxated lens or lens subluxation.

Myopia is called as Nearsightedness. It is a common eye vision condition in which the objects farther away look blurry while the objects near are clear.

During myopia, the shape of the eye causes the light rays to bend incorrectly and focuses the images in front of the retina instead of on the retina.

marfanoid–progeroid–lipodystrophy syndrome marfanoid–progeroid–lipodystrophy syndrome

Aortic Dilatation

The people suffering from marfanoid–progeroid–lipodystrophy syndrome also experience aortic dilatation. A decrease in aortic elasticity is also observed in the children having FBN1 mutations.

Loose Skin and Slow Hair growth

The symptoms of loose skin and sparse scalp hair have also been reported during marfanoid–progeroid–lipodystrophy syndrome.

Slow hair growth is also associated with this condition because of the presence of degenerated hair follicles, especially in the outer root sheath which was observed to be different from the normal compact outer root sheath and hair follicles.

Problems with Ear Cartilage 

Other symptoms such as low-set ears, bent ears, atrophy or necrosis of the chondrocytes caused by cartilage damage, and in consecutive ear cartilage are also observed during marfanoid–progeroid–lipodystrophy syndrome.

Early Growth Retardation

bone impairment and Early growth retardation are also observed in the patients of marfanoid–progeroid–lipodystrophy syndrome. During this condition, smaller body and thinner limbs were observed.

The study shows a significantly reduced diameter and length of femurs and tibiae in the patients.  A reduced number of the bone marrow adipocytes, marrow cells and a significantly decreased osteoblasts in the zone of bone deposition.

Final Thought

Marfanoid–progeroid–lipodystrophy syndrome is an extremely rare condition and less than 10 cases are found till date. No treatment is available for this condition.

However, only some of the symptoms can be corrected. More research is required to investigate and treat this condition. Lizzie Velasquez is one of the known personalities suffering from this condition.

Hilary Jensen

Hilary is a Food Science and Nutrition graduate with specialization in diet planning and weight loss. She enjoys reading and writing on Food, Nutrition, Diet, Weight Loss, and General Health.

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