This is one of the most famous paintings in the world. Various medical diagnoses float around regarding the subject of this painting; was she missing her teeth and that is what caused her tight lipped smile? Or was it a result of facial paralysis? However, there may be physical signs of one intriguing diagnosis. Can you spot it?
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What are the physical exam findings?
The subject of this painting is a young woman – likely in her 20’s to 30’s. She is sitting straight up, with arms folded, and maintaining appropriate eye contact with the viewer. She is smiling with her mouth closed. When looking into her eyes, we find our first clue.
Moving down the painting, we find another subtle anomaly.
Shown above is a discrepancy in the shadow of her hand. There is no musculature that would form this subtle change in shadows normally. This brings us to think that this lesion is not a normal part of anatomy, but a mass underneath her skin. No redness surrounding the area points away from an infection source. There are no lymph nodes in this area. Putting together the findings of the eye, this mass could possibly be a xanthoma.
What condition do these physical findings point to?
Familial hypercholesterolemia (FH)1
What is the frequency of this condition?
FH is the most common genetic cause of high cholesterol and a recent study has found that it affects 1 in 250 people in the USA.2
What causes this condition?
FH is caused by a faulty gene on chromosome 19 that impairs the body from clearing LDL. This genetic defect is autosomal dominant; affected individuals typically have extensive cardiac problems (hypertension, high cholesterol, cardiac events) at a young age in their family history.3
What are the physical manifestations of this disease?
Physical manifestations include xanthoma’s (fatty deposits in the body including cornea of eye) and xanthelasma’s (cholesterol deposits in corner of eyes).4
How do you diagnose this condition?
Ultimately, a genetic test is the only way to truly diagnose this condition. However, phenotypic diagnosis can be made if LDL is >5.0 mmol/L with the context of early cardiac disease in the family. Early detection is paramount as treatment is chronic and the earlier the diagnosis is made, the better the prognosis for those affected. 5
What are the complications of this condition?
As mentioned before, the complications of this condition can be serious; the severity increases if a child has inherited genetic defects from both parents. Complications include: hyperlipidemia leading to early onset atherosclerosis and subsequent cardiovascular events.4
Mona Lisa was reported to have died at age 34 from an unknown cause.. Could it be a heart attack that killed her?1