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Doctor insights on: When Is Marfan's Typically Diagnosed

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How is dcis typically detected and diagnosed?

How is dcis typically detected and diagnosed?

Biopsy: Ductal carcinoma in situ (dcis) is initially seen on mammogram as a cluster of abnormal microscopic calcifications in the breast. A biopsy is then done to obtain a sample of the area of breast tissue in question. When the biopsy tissue is examined under a microscope it will definitively diagnose the dcis cells. ...Read more

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Dr. Scott McLean
336 doctors shared insights

Marfan Syndrome (Definition)

An inherited connective tissue disorder where body shape is long thin arms hands and fingers and arm length ...Read more


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Can ehler-Danlos cause painful muscle spasm? What age is someone typically diagnosed with Ehler-Danlos?

Can ehler-Danlos cause painful muscle spasm? What age is someone typically diagnosed with Ehler-Danlos?

Indirectly, yes.: Ehler-Danlos syndrome is a genetic defect in the structure of collagen (or its building blocks). Collagen reenforces the connective tissue that provides strength and form to the soft tissues of our body. Abnormal collagen can cause weakness of muscles & joints, leaving them more prone to injury & pain. Milder cases are often overlooked until well into adolescence & beyond. Helpful? ...Read more

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Are people born with borderline pd? Is it hereditary? Or is it developed?

Are people born with borderline pd? Is it hereditary? Or is it developed?

Yes and No, or Both: Every baby is born with some temperament, some personality. Part of everybody's mental state is inherited. The rest of it develops with age (the development is guided by both inherited and environmental factors). Nobody is born with a blank mental state, that is capable of developing into all types of personalities. Some aspects of every person are already predistined, but nobody knows how much. ...Read more

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When a person is diagnosed with dementia (in the very early stages), when will they die?

When a person is diagnosed with dementia (in the very early stages), when will they die?

Variable/hard to say: There is much variability in life expectancy from time of diagnosis to time of death. Much has to do with the virulence of the disease process; the type of care received; the management of other, secondary medical complications. ...Read more

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What exactly is the disease called when you are born with short arms?

What exactly is the disease called when you are born with short arms?

There are several: One of the more common and survivable disorders with short arms is achondroplasia. Most (90%) represent new mutations and adult stature is around 4.5 ft. ...Read more

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My father who is 62 years old is diagnosed with mild cerebral cortical atrophy after an MRI. What is its treatment and is it fatal.

My father who is 62 years old is diagnosed with mild cerebral cortical atrophy after an MRI. What is its treatment and is it fatal.

None: Mild cerebral atrophy usually is a condition that arises from aging. There is no known treatment for this, it is not fatal. ...Read more

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Does aortic root dilation associated with Ehlers-Danlos syndrome usually develop in childhood? Or can it first show up in adulthood?

Does aortic root dilation associated with Ehlers-Danlos syndrome usually develop in childhood?  Or can it first show up in adulthood?

Unlikely: Although there are many different subtypes of Ehlers-Danlos syndrome, the overall incidence of aortic rd is less common than in Marfan's where it is thought to be about 80%. The attached paper looked at the hypermotile subtype of EDS and found onset usually before age 14 and this seemed to stabilize in adulthood. ...Read more

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Is scolisis heritery or caused at birth my brother is diagnosed with it and my son is having simariler symptoms

It can be genetic.: Scoliosis--abnormal curvature of the spine--can be hereditary or it may develop from injury or infection. Obviously your son's pediatrician is the best resource to determine if this presumptive scoliosis is abnormal requiring orthopedic intervention. A pediatric orthopedist is also well qualified to answer your concerns. Call for an appointment soon. ...Read more

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What is the youngest age a person can be diagnosed with peripheral arterial disease?

What is the youngest age a person can be diagnosed with peripheral arterial disease?

Yes: While uncommon people as young as 20 may have peripheral arterial disease, though this is usually the result of a number of vasculitidies such as takayasu's arteritis or berger's disease. More commonly pad is found in people over the age of 50, and quite prevalent in those over age 70. Smoking is the biggest risk factor in developing pad, conferring a 16x higher risk than a non-smoker. Don't smoke. ...Read more

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Can menkes disease or syndrome show later in life? Can It unnoticed until adulthood? Is this possible? Are you always born with it?

Can menkes disease or syndrome show later in life? Can It unnoticed until adulthood? Is this possible? Are you always born with it?

Yes, Yes and Yes: Depending on the nature and degree of aberrant functioning of the gene ATP7A, responsible for copper transport and absorption, one can have classic Menkes disease in childhood, a variant now called Occipital Horn Disease in young adulthood or distal motor neuropathy in mid life. Most of the time the clinical picture does not vary within a family but sometimes it can. For a more detailed discussion of this very compl;ex matter, please schedule a virtual consult. Do consider chromosomal microarray testing and genetic counseling. This gene is X linked so the disease cannot be passed from the father but the gene can be passed to a daughter who will then pass it to her child 50% of the time.. ...Read more

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How is mitral insufficiency usually diagnosed?

How is mitral insufficiency usually diagnosed?

Stethoscope: It is usually first suspected when a doctor listens to your heart and hears a heart murmur. The characteristics of the murmur such as where on your chest it is heard would suggest mitral insufficiency. Then an echocardiogram would let the doctor see the structure of the valve. A doppler study would show that the flow across the valve is going in the wrong direction. ...Read more

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Does a person have to be tall to be diagnosed with Marfan Syndrome? How often does it occur in average height or shorter people?

Does a person have to be tall to be diagnosed with Marfan Syndrome? How often does it occur in average height or shorter people?

Usually tall & thin.: Most universities that recruit such a person because they are tall & good players, the usually test 4 marfans B4 signing them.tall thin women have it more commonly than males. Also they really stand out in high school due to their height. ...Read more

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Recently diagnosed with SMA nutcracker syndrome. How likely is my being a small person a factor in that diagnosis?

Recently diagnosed with SMA nutcracker syndrome. How likely is my being a small person a factor in that diagnosis?

See answer: Nutcracker syndrome refers to the compression of the left renal vein between the aorta and the superior mesenteric artery, which results in elevated left renal vein pressure causing abdominal/flank pain and blood in urine. Occurs more common in tall, thin, and slender females. Often misdiagnosed. There is also a condition known as sma syndrome which is a different and more serious condition. ...Read more

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How long does a Down syndrome person usually live? Is that a problem since parents are usually old?

How long does a Down syndrome person usually live? Is that a problem since parents are usually old?

6 decades +: Years ago the expected lifespan for ds kids was short, due to a combination of heart defects, increased vulnerability to infection & lack of aggressive management. Today the projected lifespan exceeds 6 decades.Ds is a prime example of the need for survivor assistance planning. Various ds support groups, the "arc", social workers all help families integrate public & private support. ...Read more

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I was diagnosed with tortuous and atherosclerotic thoracic aorta. What is that in layman talk?

I was diagnosed with tortuous and atherosclerotic thoracic aorta. What is that in layman talk?

Interpretation : Tortuous = twisted. Atherosclerotic = cholesterol laden. Thoracic = chest. Aorta = major blood vessel from heart to internal organs & extremities. ...Read more

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How is lcis typically diagnosed?

How is lcis typically diagnosed?

Biopsy: Patients with lobular carcinoma in situ (lcis) typically do not have any symptoms and the abnormality cannot usually be seen on mammograms. It is usually diagnosed when a breast biopsy is performed for other reasons, such as an unrelated breast lump. The examination of the tissue by a pathologist under a microscope shows the abnormal cells found in lcis. ...Read more

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Is chondromalacia stage II synonymous with arthritis? How common and how serious is it?

Is chondromalacia stage II synonymous with arthritis?  How common and how serious is it?

Possible RA?: The combination u describe along with sex ; age makes me think of ra, especially if it is a very aggressive synovial reaction. 1 would expect some reaction, but if above what 1 would expect from the chondro, an evaluation 4 RA would b in order. Did ur surgeon take a biopsy? If so u will have the diagnosis if it is ra? ...Read more

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What tests are done to diagnose Marfan Syndrome?

What tests are done to diagnose Marfan Syndrome?

Multiple : There is no single test for Marfan's Syndrome. After the clinical suspicion raised, a detailed exam with a focus on heart with EKG and Echo, imaging and genetic history will be needed for the confirmation. ...Read more

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I'm worried that I have Marfan syndrome, please help me diagnose myself?

I'm worried that I have Marfan syndrome, please help me diagnose myself?

Build a team: Marfan syndrome is a complex condition that requires a team of experts in genetics, ophthalmology, and cardiology to establish or exclude the diagnosis. A good place to start is with your primary care provider and with some help from the national marfan foundation. Their website has a section written especially for someone like you: http://www.Marfan.Org/marfan/2406/diagnosis#suspect. ...Read more

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Which skeletal diagnostic tests are performed to diagnose Marfan syndrome?

Which skeletal diagnostic tests are performed to diagnose Marfan syndrome?

Several features: Features suggestive of marfan syndrome include: above-average height, long arms, long fingers, flat feet, high-arched palate, narrow face, crowded teeth, small lower jaw, pectus carinatum (pigeon chest), pectus excavatum (sunken chest), hunchback (hunchback), scoliosis (crooked back), hypermobile/hyperflexible joints, etc... ...Read more

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Are cramps and more pain typically associated with marfan's syndrome?

Aches here and there: Marfan syndrome patients can get aches and pains in many joints because of the looser ligaments trying to hold the joints together at rest and under physical stress. ...Read more

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Is patellofemoral syndrome typically associated with marfan's syndrome?

Is patellofemoral syndrome typically associated with marfan's syndrome?

PFS can happen: Marfan syndrome patients can get aches and pains in many joints because of the looser ligaments trying to hold the joints together at rest and under physical stress. Patellofemoral syndrome is common in normal, active school-aged children, so it is hard to tell whether or not it occurs more often in marfan syndrome kids. ...Read more

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Are there any personality traits typically associated with with Marfan syndrome?

Not that i kno of.: Tall, that's why tall girls who may get scholarship 2 play buckets R tested 4 Marfans. There R many complications if U have Marfans, & play sports. From heart 2 eyes & more. ...Read more

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Is hearing loss/ringing in the ears typically associated with marfan's syndrome?

No: Stickler syndrome, which has some features similar to those in marfan syndrome, is due to a different mutation. Stickler syndrome can be associated with hearing loss. ...Read more

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Can any doctor or hospital diagnose Marfan syndrome or do I have to go to a special clinic?

Depends: You can start with your primary care physician and then he or she can refer you to a specialist. You will want to see someone who has a lot of experience in diagnosing and treating marfan's. ...Read more

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What is marfans? Did abe lincoln and his sons have it?

MARFAN SYNDROME: Marfan syndrome is a genetic disorder which effects connective tissue. Abraham lincoln was previously thought to have suffered from marfan syndrome but more recent research suggests that his condition was actually multiple endocrine neoplasia type 2b. ...Read more

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I heard that abraham lincoln had marfans. Is that why he was so tall and thin?

I heard that abraham lincoln had marfans. Is that why he was so tall and thin?

Controversial: A very controversial subject, but unconfirmed. Individuals with marfan's syndrome have armspans greater than height, which represents the primary diagnostic criteria. ...Read more

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Do those w/Marfans stop growing taller about same time as those w/o it? Or can U keep growing even after 30, 35, 40+ or start growing again yrs later?

The just do-: --they just grow faster than usual,& R the tallest in their age group. Also there R 3 grades of Marfan's, grade 1 R hyper-mobile in their joints and R usually small, not tall. ...Read more

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I might have marfan, what should I do?

Med Eval: See your doctor. He or she can determine if you meet the international criteria for diagnosis. ...Read more

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What are the mental traits of Marfans Syndrome?

Well...: From the Psychological point of view, there are no traits specific to marfans syndrome. Please read the following:http://www.childrenshospital.org/health-topics/conditions/marfan-syndrome ...Read more

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What is marfan's syndrome and how is it treated?

See below: Marfan syndrome is a disorder of connective tissue, the tissue that strengthens the body's structures. Disorders of connective tissue affect the skeletal system, cardiovascular system, eyes, and skin. Vision problems should be treated when possible. Monitor for scoliosis, especially during the teenage years. Medicine to slow the heart rate may help prevent stress on the aorta. ...Read more

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Are you at risk for AAA in marfans?

Are you at risk for AAA in marfans?

AAA in Marfans: People with marfans have weaker, stretchy walls in their blood vessels which do make aneurysms more common than in people without marfans. ...Read more

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My daugther is 7 year old n not to long ago i knew she got marfan's n i don't know what to do or waz going to happend im new on thiz..What is marfan's?

Marfan.org: The marfan foundation has a wonderful website at www.Marfan.Org. There is a lot of information there to help families understand living with marfan syndrome. There is also an annual family conference. The next annual family conference is in july 2014 in baltimore. ...Read more

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