Spot Diagnosis

Spot the diagnosis

 

Raynaud syndrome

 

Raynaud's phenomenon

 

Raynaud's phenomenon

 

Raynaud syndrome.

 

Raynauds

 

Raynaud's phenomenon

Raynaud's disease is a condition that causes some areas of body — such as your fingers, toes, the tip of your nose and your ears — to feel numb and cool in response to cold temperatures or stress. In Raynaud's disease, smaller arteries that supply blood to skin narrow, limiting blood circulation to affected areas.

 

Answer : Raynaud's phenomenon

 

Firstly some terminology disambiguation

Raynaud's phenomenon - Raynaud's phenomenon is a vasospastic disorder causing discoloration of the fingers, toes, and occasionally other areas. This condition may also cause nails to become brittle with longitudinal ridges.

It is available in 2 flavors - 'Disease' & 'Syndrome'

Raynaud's disease aka primary raynaud's phenomenon is idiopathic i.e no identifiable cause to the vasospastic phenomenon

Raynaud's syndrome alias "secondary raynaud's phenomenon" is just that - sec to something ex. arthrosclerosis, cervical rib etc. i.e there is an underlying reason for the ischemia.

Self Assessment Questions


Question 1 of 3

A 25-year-old woman presents to your office complaining of cold hands. She describes them turning white as she reaches for orange juice in the frozen food section of the supermarket. It seems to be getting worse lately. She has no other symptoms but does note that she and her husband are contemplating pregnancy. Her examination today is unremarkable.
What condition is she describing?

A. Carpal Tunnel syndrome
B. Raynaud phenomenon
C. subacute bacterial endocarditis with emboli
D. SLE
E. RA


The answer is B.



Question 2 of 3

A 25-year-old woman presents to your office complaining of cold hands. She describes them turning white as she reaches for orange juice in the frozen food section of the supermarket. It seems to be getting worse lately. She has no other symptoms but does note that she and her husband are contemplating pregnancy. Her examination today is unremarkable.
In this patient, which of the following studies would be most likely to describe an increased risk of future systemic disease?

A. echocardiogram
B. nerve conduction study
C. ANA
D. joint aspiration
E. arterial Doppler of the upper limbs with cold stimulation


The answer is C.



Question 3 of 3

A 25-year-old woman presents to your office complaining of cold hands. She describes them turning white as she reaches for orange juice in the frozen food section of the supermarket. It seems to be getting worse lately. She has no other symptoms but does note that she and her husband are contemplating pregnancy. Her examination today is unremarkable.
Which of the following antibodies can cross the placenta and cause the syndrome of neonatal lupus?

A. anti-double-stranded DNA antibodies
B. antiscleroderma antibodies
C. anticardiolipin antibodies
D. Sjögren syndrome antibodies (SSA/SSB)
E. anticentromere antibody


The answer is D.



EXPLANATION:


Vasospasm severe enough to reduce flow and produce cyanosis after exposure to cold is called Raynaud phenomenon. Some make a further distinction between Raynaud syndrome when the phenomenon is associated with another systemic disorder and Raynaud disease when there is no established systemic process. Similarly, Raynaud phenomenon in the absence of a systemic illness may also be referred to as primary Raynaud phenomenon, and Raynaud in the presence of another systemic illness may be termed secondary Raynaud phenomenon.


In this case, there is no evidence of another systemic illness. Clinical features suggesting SLE or RA are absent. Subacute bacterial endocarditis likewise would be expected to be associated with fever, which is absent in this patient. In addition, one would expect to see areas of necrosis either in the soft tissue (Janeway spots) or under the fingernails (splinter hemorrhages) were any kind of embolic phenomenon is present.


Given the patient's age, it is reasonable to explore the possibility of an associated systemic illness. If one were present, basic laboratories such as blood count, urinalysis, and chemistries are important. ANA is a reasonable screening study in this case. It does have a prognostic value increasing the likelihood of the development of a systemic process in the future. If positive, further serologic studies might then be helpful in establishing a more specific diagnosis. The arterial Doppler with cold stimulation can be a useful test in showing a marked drop in blood flow with cold exposure. Still, with such a classical description, it is hard to imagine how this test would be helpful either diagnostically or therapeutically.


Antidouble-stranded DNA antibodies would establish the diagnosis of SLE. Likewise, the antiscleroderma antibodies (anti-Scl-70) would be a very important prognostic marker once the ANA is positive and certainly would occasion a rheumatic disease consultation. Patients with hypercoagulable states, including those with positive cardiolipin antibodies, can often mimic Raynaud's. Given that the patient wants to become pregnant, this would be an important study to obtain. Sjögren antibodies, both SSA and SSB, are important in this case because of the contemplated pregnancy. Sjögren antibodies can cross the placenta and create the syndrome of neonatal lupus (complete heart block, thrombocytopenia, and rash).

(Y)

 

Raynaud's phenomenon yeah...........

 

Raynaud syndrome

 

Raynaud phenomenon.

 

Reynaud's phenomenon

 

As always, thanks for neo-star. Funny this thread came up - was studying it the other day. The information about the antibodies was tops; adding it to my notes. Cheers

 

just wish to add a little something to antibodies, by citing an mcq

neonatal lupus is ass with

a) anti-SSA
b) anti-SSB
c) anti - jo1
d) anti -Ds. DNA

ans - anti-SSA

all of us know that Neonatal lupus is ass with - anti Ro and so if we see that in the options, piece of cake...so the examiners r now replacing it with it's alias i.e anti - SSA. Going by the same token, anti La is called anti - SSB

 

Can I ask about this...

Earlier you wrote that neonatal lupus was associated with both anti-SSA & -SSB; which is what a quick google search also mentions (Prevention of congenital heart block in children of SSA-positive mothers). Can you clarify? Cheers

 

Since both SS-A and SS-B are childhood buddies, they are often taken together in the same breath ( technically called - 'Crime by Association' ) :hhh:

So was the case from where i picked this mcq and i didn't want to modify it. But after u highlighted the antibodies in my post, i thought i shud make the point and so i posted the mcq with both anti SS-A and anti SS-B in the option ( i swear ). I faced an exam recently, with the exact same options and ususally in criminal cases, it's always better to go for the big fish and in case of neonatal - lupus it is anti-Ro or anti SS-A



table is from Harrison 18th edition

Neonatal lupus results from the passive transfer of maternal immunoglobulin (Ig) G autoantibodies to the fetus. The vast majority of neonatal lupus cases are associated with maternal anti-Ro (also known as SSA) and anti-La antibodies (also known as SSB); however other autoantibodies, including anti-ribonucleoprotein (anti-RNP), have also been reported to cause neonatal lupus. Despite the clear association with maternal autoantibodies, their presence alone is not sufficient to cause disease, as <3% of offspring born to mothers with anti-Ro and anti-La antibodies experience congenital heart block.

In vitro studies suggest that during cardiac development, Ro and La antigens may be exposed on the surface of cardiac cells in the proximity of the atrioventricular node, thus making these antigens accessible to maternal autoantibodies. Binding incites a local immune response, resulting in fibrosis within the conduction system. In the skin, exposure to ultraviolet light results in cell damage and the exposure of Ro and La antigens, inducing a similar local inflammatory response that produces the characteristic rash.

ref - 152.1 Neonatal lupus, Nelson Pediatrics, 19th ed.

Definition Neonatal LE is a rare syndrome comprising transient skin lesions resembling subacute cutaneous LE, and/or congenitalheart block, occurring in the babies of mothers with clinical or subclinical autoimmune connective tissue disease, and associated with the transplacental passage of maternal autoantibodies to the ribonucleoproteins (RNPs), Ro-SSA, La-SSB or U1-RNP.

Aetiology It is now accepted that this disease is provoked in the fetus or newborn infant by maternal IgG autoantibodies that have crossed the placenta. In 95% of cases, these are of IgG1 class and are directed against the Ro RNP antigen. These antibodies are relatively prevalent in young women, and appear to be compatible with apparently normal health.

Prognosis Infants with skin lesions alone, or with skin lesions and systemic features other than heart block, generally show little sign of residual disease after the age of 1 year. However, their long-term prognosis must remain slightly guarded in the light of reports of the later development by some of full-blown connective tissue disease. Conduction defects of the heart tend to be permanent, and when severe are associated with a significant mortality.
The risk of recurrence in further pregnancies appears to be about 25%. This risk appears to be infl uenced by immunogenetic factors. Spontaneous abortion and stillbirth do not appear to be more frequent in further pregnancies of mothers who have had a previous child with neonatal LE. Mothers with Roantibody may experience recurrent fetal loss if they do not have
SLE, but do not appear to do so if they do have SLE.

Ref: Rook's textbook of dermatology 17.17


So, it depends....in our exams, whatever Harrison says is 'Gospel Truth'. There are more references, that implicate anti-Ro as the main offender and make a ref. to anti-La , as - 'Partner in Crime'.

 

Since both SS-A and SS-B are childhood buddies, they are often taken together in the same breath ( technically called - 'Crime by Association' ) :hhh:

So was the case from where i picked this mcq and i didn't want to modify it. But after u highlighted the antibodies in my post, i thought i shud make the point and so i posted the mcq with both anti SS-A and anti SS-B in the option ( i swear ). I faced an exam recently, with the exact same options and ususally in criminal cases, it's always better to go for the big fish and in case of neonatal - lupus it is anti-Ro or anti SS-A



table is from Harrison 18th edition

Neonatal lupus results from the passive transfer of maternal immunoglobulin (Ig) G autoantibodies to the fetus. The vast majority of neonatal lupus cases are associated with maternal anti-Ro (also known as SSA) and anti-La antibodies (also known as SSB); however other autoantibodies, including anti-ribonucleoprotein (anti-RNP), have also been reported to cause neonatal lupus. Despite the clear association with maternal autoantibodies, their presence alone is not sufficient to cause disease, as <3% of offspring born to mothers with anti-Ro and anti-La antibodies experience congenital heart block.

In vitro studies suggest that during cardiac development, Ro and La antigens may be exposed on the surface of cardiac cells in the proximity of the atrioventricular node, thus making these antigens accessible to maternal autoantibodies. Binding incites a local immune response, resulting in fibrosis within the conduction system. In the skin, exposure to ultraviolet light results in cell damage and the exposure of Ro and La antigens, inducing a similar local inflammatory response that produces the characteristic rash.

ref - 152.1 Neonatal lupus, Nelson Pediatrics, 19th ed.

Definition Neonatal LE is a rare syndrome comprising transient skin lesions resembling subacute cutaneous LE, and/or congenitalheart block, occurring in the babies of mothers with clinical or subclinical autoimmune connective tissue disease, and associated with the transplacental passage of maternal autoantibodies to the ribonucleoproteins (RNPs), Ro-SSA, La-SSB or U1-RNP.

Aetiology It is now accepted that this disease is provoked in the fetus or newborn infant by maternal IgG autoantibodies that have crossed the placenta. In 95% of cases, these are of IgG1 class and are directed against the Ro RNP antigen. These antibodies are relatively prevalent in young women, and appear to be compatible with apparently normal health.

Prognosis Infants with skin lesions alone, or with skin lesions and systemic features other than heart block, generally show little sign of residual disease after the age of 1 year. However, their long-term prognosis must remain slightly guarded in the light of reports of the later development by some of full-blown connective tissue disease. Conduction defects of the heart tend to be permanent, and when severe are associated with a significant mortality.
The risk of recurrence in further pregnancies appears to be about 25%. This risk appears to be infl uenced by immunogenetic factors. Spontaneous abortion and stillbirth do not appear to be more frequent in further pregnancies of mothers who have had a previous child with neonatal LE. Mothers with Roantibody may experience recurrent fetal loss if they do not have
SLE, but do not appear to do so if they do have SLE.

Ref: Rook's textbook of dermatology 17.17

Neonatal lupus is a distinct entity that can occur in infants of mothers with or without a diagnosis of SLE. The syndrome is characterized by cutaneous
lesions and congenital heart block in the infant and the presence of antibodies to the Ro (SSA) or La (SSB) RNA-binding proteins (or both) in the mother.
Mortality in babies with a congenital heart block is 15 to 31%. Deposition of anti-Ro IgG in the fetal heart, indicative of transplacental transfer of maternal autoantibody, and dense connective tissue encompassing the conduction system have been demonstrated in autopsy specimens. Prenatal testing of lupus mothers for the presence of anti-Ro and anti-La antibodies is appropriate, and careful monitoring with fetal echocardiography starting at week 16 of pregnancy can detect conduction defects. Fluorinated corticosteroids such as dexamethasone have been effective in reversing heart block in some cases.

ref - Cecil's Medicine, 24th ed, Chp 274, page 1072



The presence of maternal anti-Ro and anti-La antibodies predicts a higher risk of neonatal lupus. Where both are present the risk is approximately 5 per cent.

ref - Oxford Textbook of Medicine, 4th ed, 18.10.2

So, it depends....in our exams, whatever Harrison says is 'Gospel Truth'. There are more references, that implicate anti-Ro as the main offender and make a ref. to anti-La , as - 'Partner in Crime'.

 

And if u get a question, asking which is not implicated in neonatal lupus
with options as
a) anti - SS-A
b) anti - SS-B
c) anti - U1
d) anti - Jo 1

ur response will be ;-)

see Rook's reference above

Xtra Edge on Neonatal lupus

systemic lupus erythematosus in pregnancy

systemic lupus erythematosus itself does not usually reduce the ability to conceive, although as described the drugs used to treat it, notably cyclophosphamide, may induce infertility due to gonadal failure. There is an increased risk of spontaneous abortion, particularly in the presence of high-titre antiphospholipid antibodies. Pregnant mothers with a high antiphospholipid antibody level and a history of previous miscarriage should be considered for anticoagulation until the birth of the baby. Since warfarin is potentially teratogenic, heparin may be used from the second trimester until parturition.

Mothers often ask whether their children are likely to inherit systemic lupus erythematosus. Inheritance of the adult form of the disease is very rare (approximately 1 per cent of all cases), though a transient illness termed neonatal lupus can occur. The characteristics of this condition are rash, hepatitis, anaemia, and thrombocytopenia which usually resolve by 8 months after birth, and inflammation of the cardiac conducting tissues which may lead to heart block in the fetus. The cardiac problem may be diagnosed by ultrasound scans of the fetal heart between 16 and 24 weeks' gestation. Treatment of the mother with 4 mg oral dexamethasone per day may prevent progression from incomplete to complete fetal heart block. If complete heart block occurs, the neonate may require a cardiac pacemaker. Interestingly, children born with neonatal lupus sometimes develop heart block later in life. In one reported case this problem occurred at the age of 35.

ref - Oxford Textbook of Medicine, 4th ed, 18.10.2

 

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