January 14th - MHH - HOCM/IHSS

Background: Hypertrophic Cardiomyopathy is inherited about half the time (autosomal dominant). It is these patients with inherited disease that have a high risk of ventricular arrythmias and sudden cardiac death. Annual Mortality in Adults is around 2%

Pathophysiology:  Patients can get asymmetrical septal hypertrophy, concentric hypertropy, and other areas of the heart may be involved. Due to this hypertrophy, a narrow outflow tract occurs and there is a pressure gradient that occurs. 

 


Clinical:
Patients can present along the spectrum of disease - syncope, dizziness/presyncope, signs of diastolic dysfunction (dyspnea, PND, orthopnea), myocardial ischemia (angina), palpitations (arrythmias), and sudden cardiac death.  However, most are asymptomatic early in the disease course, and remember that sudden cardiac death can be the first clinical feature.  The Exam will reveal a mid-systolic murmur in the RUSB that increases with Valsalva. An S4 is usually present.  Not uncommonly a double (and sometimes triple) apical impule is felt. Carotid pulse will be brisk, and is sometimes bifid. 

EKG and CXR:

Some may have deep T-wave inversions in the inferior and anterior leads of the EKG, some patients may have inferio-lateral Q-waves.  Both the EKG and CXR can reveal LVH and LAE.

Diagnosis:
Echocardiogram is diagnostic.  There are multiple findings, but a septum that is too thick (and thicker than the posterior wall) is usually present.  Outflow tract obstruction is usually seen, as well as abnormal motion of the anterior mitral leaflet.   Most patients should have a Holter Placed. Cardiac cath is not usually done on these patients unless surgical intervention is planned. 

Treatment:
Beta Blockers are the treatment of choice. These are given to those with a family history of sudden cardiac death, and in patients with symptoms.  Long-acting Calcium Channel Blockers are used as well (esp Verapamil). If patient has volume overload, give small doses of diuretics, as patients are preload dependant and low volume is dangerous.  If patients have outflow tract obstruction, septal myectomy is performed.  Septal ablation with ethanol can also be performed.   AICDs are placed in those at high risk for Sudden Cardiac Death.  Remember: Avoid aggressive diuresis as well as digoxin and diuretics.

January 11th - LBJ - Polymyositis/Dermatomyositis and Rheum Labs

Today at LBJ a case of Polymyositis was presented

Here is an overview of the inflammatory myopathies and some rheum labs to know for boards








The 3 Inflammatory Myopathies you should know about for boards are Polymyositis, Dermatomyositis and and Inclusion Body Myositis

Clinical
Polymyositis and Dermatomyositis: Proximal Muscle Weakness.  Classically they have difficulty "rising from a chair." Also they can have trouble lifting their head up and trouble climbing stairs. 
Pain is not frequently present in these patients (myalgias in less than 30%), it is more muscle weakness.  Arthralgias may be present, and pharyngeal weakness can lead to dysphagia/aspiration. 
Dermatomyositis is essentially Polymyositis with a rash, but with more to know on this in a bit

Diagnostic Criteria:
1. Symmetrical weakness of limb girdle muscles
2. Muscle Biopsy showing necrosis and perifasicular atrophy
3. Elevated Muscle Enzymes (Can be any - CK, Aldolase, LDH and AST are the most often used)
4. EMG with small action potentials, sharp waves and high frequency discharges

Definite Polymyositis is all 4 above
Definite Dermatomyositis is 3/4 above + Skin/Rash Findings c/w disease

                               So what are the skin/rash findings... There are many. For boards, you'll need to know:

                                                    Gottren's Papules - purple/scaly eruption over the MCPs

Heliotrope Rash - purple discoloration of upper eyelids

Shawl Sign - photosensitive erythema on anterior chest

So, like stated Dermatomyositis is clinically polymyositis with the skin changes. 

Workup/Labs:

Your workup for these patients will be what is necessary to help diagnose (i.e EMG).

Muscle biopsy is done, but usually after MRI - so they know where to target the biopsy

CXR should be checked at the time of diagnosis to look for Interstitial Lung Disease

ANA is Positive in >90 of Patients

Anti-Mi2 can be present in Dermatomyositis (<25% of the time)

Anti-Jo1 can be present in Polymyositis - and when this is present patients is known to "antisynthetase antibody syndrome) - characterized by polymyositis, arthritis, interstitial lung disease, fever, Raynaud's and

"mechanics hands" (a dry scaly rash on the fingers)

Other antibodies may be positive if there is an overlap syndrome present (more on this later)

Complications:

- Like stated before, pharyngeal involvement can lead to aspiration

- Patients can get cardiomyopathy or arrythmias from cardiac involvement

- Interstitial lung disease is a complication as well

- Malignancy:  not so much a complication, but a disease association.  Especially in patients with Dermatomyositis, there is evidence that a workup for malignancy should be done.  The most common malignancies found in these patients are ovarian, lung and head/neck. So, a good screening/workup should be done in patients with Dermatomyositis.  CT scanning of the Chest, Abdomen and Pelvis are usually done

Treatment:

Initially with High Dose Prednisone (1-2 mg/kg/day) which is continued until elevated enzymes decrease

After these values begin to decrease, the dose is tapered to maintenance of 5-10mg daily.  Steroid sparing agents (i.e. MTX or AZA) can be used.  Hydroxychloroquine can be used for the skin lesions. 

Inclusion Body Myositis:

All you need to know is that this occurs in patients that are older than 50 years, and patients have DISTAL muscle weakness> Proximal weakness.  Dyphagia is usually present as well (greater than 50% of patients).  Concominant cardiovascular disease is usually present in these patients, but may be due to their age on diagnosis.  Muscle Biopsy is diagnostic.  Sometimes it is precipitated by drugs such as alcohol and cocaine. To treat, stop offending agent and can give steroids, but they don't help too much.

For Boards, here is a quick Antibody Review For You:
ANA - Positive is so many things....  SLE, Scleroderma, Sjogrens, Mixed Connective Tissue, Myopathies

Anti-Histone - Drug Induced Lupus... Remember these patients have the same clinical findings as in regular Lupus, but the CNS are Renal findings are rare

Anti-CCP - Diagnose/Send in patient with early RA

RF - Rheumatoid Arthritis

Anti-Jo1 - Antisynthesase Syndrome

Anti-Mi2 - Polymyositis

Anti-Smith - Specific Test for SLE. Good to Send for Flare.

Anti-dsDNA - SLE. Good to Send for Flare. Predicts Renal Involvement

Anti-U1 RNP - Mixed Connective Tissue Disease - Patients get SLE + Polymyositis + Scleroderma

SSA (Anti-Ro)  and SSB (Anti-LA) - Sjogren's and SLE. SSA with Neonatal Lupus too. 

Anti-scl70 - Diffuse Scleroderma

Anti-Centromere - CREST Syndrome (i.e. Limited Scleroderma)

c-ANCA - Wegeners

p-ANCA - Churg-Strauss and microscopic Polyangiitis.  These two are also MPO +: know that there are diseases which are p-ANCA positive and MPO Negative (such as ulcerative colitis and hepatitis)

Anti-Mitochondrial - Primary Biliary Cirrhosis

Anti-Smooth Muscle - Autoimmune Hepatitis (patients are usually ANA positive as well)

Reference:
Images Courtesy of
Picasaweb: picasaweb.google.com/.../6sgfojHcfP1D90x2j_2ANw
Emedicine: emedicine.medscape.com/article/332783-overview
mediwire.skyscape.com

January 8th - MHH - Glomerulonephritis

Today at Hermann, a case of possible GN was presented in a patient with Hepatitis C.  Here is a general overview of Glomerulonephritis:






Patients can present with HTN, Oligemia, Hematuria and peripheral edema.  If you see dysmorphic RBCs or RBC Casts, think of a glomerular disorder with a nephritic syndrome component

There are multiple ways to memorize the GNs.  I like to think of them as those causing low complement and those with normal complement. The ones with low complement you can think of having a "systemic disease"  present versus a more renal-based pathology...

Low Complement - Systemic Diseases
SLE - Think when patient has some of the 11 current diagnostic criteria
Endocarditis - In setting of fever and murmur
Cryoglobulinmenia - Patient with underlying Liver Disease, arthralgias and skin rash
Shunt Nephritis - after insertion of vascular shunt
Cholesterol Emboli Syndrome - Post cath/vascular intervention with toe rash/ischemia and eosinophilia

Low Complement - Renal Causes
1) Post-Infectious - Occurs on average 10-14 days after strept infection (including pharyngitis or impetigo) but other infections can cause PIGN as well.  If you want to tell for sure that there is prior infection, you can send ASO titers or anti-DNAse B titers.  Complements are low, but for no longer than 2 months.  Most patients self-recover, but some go on to need dialysis.  Treat the underlying infection. 

2) Membranoproliferative - Remember this disease can present with a nephrotic overlap in addition to a GN. There are many underlying "triggers" - but Hepatitis C is the most common.  Complements stay low for LIFE - unlike with PIGN where they can return to normal after 2 months.  Children are usually given steroids, adults have the underlying condition treated (especially IFN for Hepatitis C) and some are give Aspirin as well. 

Normal Complement (i.e. the Pauci-Immune diseases)
1) ANCA-associated and other vasculitis
Wegeners: c-ANCA Positive. Granulomas in the Upper Airway, Lung and Kidneys. Consider in a patient with history of sinusitis or recurrent episodes of otitis media.  CXR with Lung nodules, cavities or infiltrates.
Arthritis and purpura are common as well. 
Churg-Strauss: - p-ANCA positive.  History of allergic rhinits or asthma that is difficult to control. High serum eosinophils. Many patients with have arthralgias and neuropathy. 
HSP - Arthralgias, palpable purpura, abdominal pain and renal failure.  The debate is out whether or not to give these patients steroids, as most patients recover without treatment. 
Microscopic Polyangiitis - p-ANCA Positive.  Can present with a multitude of symptoms, and often involves the lung.  Many patients have fever, palpable purpura, mononeuritis multiplex and arthralgias. 

2) GBM Diseases - Essentially those that attack the basement membrabe of both the kidney and lung together. Goodpastures Syndrome is the one to know.  Pulmonary hemorrhage with various degrees of hematuria are key. Send anti-GBM antibodies.  Treat with repeated plasmapheresis combined with glucocorticosteroids and cyclophosphamide. 

3) IgA Nephropathy - More common in males and Asians.  Unlike with PIGN, these patients will have GN immediately after the antecedent viral infection.  They can have microscopic or gross hematuria, and even extreme exercise can "trigger" the disease.  Patients may need ACEI and Fish Oils. 

4) Alports - X-Linked with cochlear disease and lens involvement.

Also remember that any of these nephritic syndromes can become RPGN (i.e crescenteric GN) if the creatinine rapidly rises within days to weeks.  Those diseases with ANCA positivity and GBM Syndromes are notorious for causing this to occur.  Treat the ANCA disorders (and SLE) with steroids + cyclophosphamide.  Treat the Anti-GBM diseases with plasmapheresis, followed by steroids + cyclophospamide.

January 7th - LBJ - Delirium

How do you Diagnose Delirium? With the CAM:
A - Acute Onset and Fluctuating Course
B - Inattention
C - Disorganized thought (rambling speech, changing subjects)
D - Altered Consciousness (from stupor to hyperalert)
(To diagnose Delirium you need A and B plus C or D) 






How to differentiate from dementia - Essentially more insidious onset, and patients with dementia usually have normal consciousness. 

Risk Factors:  Increasing Age, previous history of delirium or cognitive impairment, underlying pain, high dose of pain meds, underlying chronic diseases (i.e. malignancy) 

Causes:  You name it and it can cause delirium...
I WATCH DEATH is a good mnemonic, but there are many out there:


Infection (UTI, PNA are common, but any cause possible)
Withdrawal (of EtOH or other drugs)
Acute metabolic (renal failure, liver failure, glucose)
Trauma
CNS pathology (you name it, it's here)
Hypoxia (any cause - Embolism, infection, anemia)
Deficiencies (electrolytes)
Endocrinopathies (esp Glucose, Thyroid)
Acute vascular diseases (MI, CVA)
Toxins or drugs (This list is endless - offenders include benzos, quinolones, narcotics, steroids)
Heavy metals

Other Issues That can cause this - HTN, post-op state, seizures, fecal impation and many others....
 Treament:
1) Prevention - Frequent reorientation and stimulation (i.e. Lights on during the day/sitter).  Maintain the sleep-wake cycle in patients, make sure they can hear well and see well, make sure they get good hydration and nutrition, and don't restrain them ig you can (this includes foleys & SCD/TEDS)
2) Treat the underlying condition (i.e. infection, offending medication, pain)
3) Haloperidol and other antipsychotics may be needed, especially in the post-op state

January 7th - LBJ - TTP

So, remember that mnemonic in First Aid - "FATRN" - Fever, Anemia, Thrombocytopenia, Renal Failure, Neurologic Changes - Well it's good for med school memorization, but not applicable to TTP in the real world.  Remember - before the treatment for TTP was perfected, those patients did have Renal Failure and Altered Mental Status - but we see that not too often now because we treat patients beforehand - if you do see these in a patient it is late stage disease!!

So when do you think of TTP on Boards?  Whenever you see the combination of a Microangiopathic Hemolytic Anemia (MAHA) And Thrombocytopenia.  What Makes a MAHA? - fibrin deposition that shears the RBC cells causing fragments, ie schistocytes.  These patients will have a low haptoglobin and a high LDH with a Normal Coombs Test.  However, do not wait for these lab tests to diagnose.  As stated before patients can get Neurologic Disease - anywhere from forgetfullness, delerium to seizures.  Don't wait for this to diagnose.  Renal Failure is late stage.  Don't have to have this to diagnose. So the take home:

TTP + MAHA will be TTP (or even HUS) or some other causes listed below...

There are two forms of TTP - idiopathic and acquired. Acquired is usually due to medications - ticlopidine, clopidogrel, cyclosporine, mitomycin C.  Almost all patients with TTP regardless of the cause have a deficiency of ADAMTS13 - which usually cleaves vWF.  If you can't cleave vWF - you get large aggregates that cause a thrombotic state.  ADAMTS13 is not involved in HUS. 

So, If you suspect TTP, look for schistocytes on the smear. If there are at least "occasional" on the smear (i.e. more than 2 per hpf) then they are significant. If you see this with thrombocytopenia, consider treatment immediately...

Before treatment was perfected, mortality was >90%. If TTP/HUS is suspected (and you are sure it's not another condition listed below) then treat with plasma exhange.  If you can't get the Line or there is no availability to do plasma exchange, then transfuse FFP in the meantime.  Some will even give steroids in the interim.  No matter what the platelets are, do not transfuse, as you will cause more clotting.  Monitor treatment with LDH Levels. 

What else can cause Schistocytes (i.e a MAHA) that you need to know for Boards, and how to tell Apart:
TTP: As per this article
HUS: Can present like TTP, more likely in young patients, almost all will have some renal insufficiency
DIC: Will have MAHA and TCP, But PT and PTT are elevated, unlike with TTP/HUS where they are       normal        
HELLP - MAHA + TTP But Patient will be pregant and have elevated liver enzymes
Malfunctioning Valve Prosthesis: - Usually does NOT cause Thrombocytopenia but will have MAHA.        PT and PTT are normal unless there is an underlying disorder or patient is on warfarin for the valve!
Malignant HTN - Can tell by the BP Reading.  Also, Thrombocytopenia is uncommon with this

Just a bit more on HUS: There are two forms - in children this is usually triggered by antecedent bacterial enteritis, especially E. Coli. Within a week of the infection, patients can get renal failure, MAHA and TCP.  In adults there are forms of HUS after bone marrow transplant and chemotherapy.  Sometimes it is hard to distinguish TTP/HUS - so even when HUS is considered, plasma exhange may be used "just in case" TTP is going on.

January 5th - LBJ - Testicular Cancer

Morning Report Today was a patient with Testicular Lymphoma.  Here is some brief board relevant material for testicular cancer.  There is a lot in the reading material out there, but for the boards you will not need to know the basics (not the nitty gritty) about staging and treatment, but you must know workup and tumor markers....




Testicular cancer is the most common solid malignancy in adult males under the age of 35.  The case presented was testicular lymphoma - essentially for boards, suspect testicular lymphoma with a testicular mass in any man above the age of 45!!! PEARL: If you think a patient has epididymitis, and they fail a course of antibiotics - U/S!!!! - it's cancer!!!!

The vast majority of testicular cancers overall (>95%) are germ cell tumors (i.e. Seminomas and Non-Seminomas, more on this later). Others, such as the aforementioned lymphoma as well as sertoli/leydig are rare. You will not likely be tested on these "other" cancers on boards. 

Risk Factors for testicular cancer include cryptoorchism, family history, Klinefelters, and HIV/AIDS.  Remember that men with cryptoorchism have increased risk of cancer in BOTH testicles, and the longer you wait to perform orchiopexy, the higher the risk of developing cancer. 

Workup:
You should know about workup as well as tumor markers and classification for the boards. If your ultrasound is suggestive of cancer, NEVER NEVER NEVER biopsy. Always do an inguinal orchiectomy with pathology.  If you are suspecting testicular cancer on U/S you should order LDH, AFP and hCG. These makers are never used to diagnose (with one exception - mentioned below) and are used for staging and monitoring therapy/relapse.

The Markers: 
Seminomas:  ALWAYS AFP Negative, can produce hCG, but rarely do so (about 10% secrete hCG)
Non-Seminomas:
    - Teratoma  - ALWAYS Negative for BOTH AFP and hCG)
    - Choriocarcinoma  - ALWAYS Positive for ONLY hCG)
    - Yolk Sac  - ALWAYS Positive for ONLY AFP)
    - Embryonal  - ALWAYS Negative for AFP, about half secrete hCG)

The exception - So, the take away from these markers for boards (besides knowing them) from a diagnostic purpose is the classic question - testicular pathology reveals that the cancer is a seminoma, but the AFP is high - well, the pathology is wrong, and there is some non-seminoma component!!!!! Therefore, the patient is treated along the non-seminoma pathway per below...

Staging for both Seminomas and Non-Seminomas: There are pretty involved details, but you'll just need to know the basics for knowing the treatment approach. Know that markers and levels are also used, but you do not need to know the specifics, only this:
Stage I: Testicle Along
Stage II: Retroperitoneal LN involvement
Stage III: Mets

Treatment: When Combo Chemo is Given it's usually either BEP (Bleomycin, Etoposide and Cisplatin) or EP alone.

Seminoma:
Stage I: Orchiectomy alone or combined with surveillence or single agent chemo or radiation. [NOTE: Surveillance is generally only used for patients that have a risk of side effects from radiation...  Chemotherapy is sometimes slightly favored over radiation due to the side effect profile of single agent chemo being better than radiation.... so the boards will not ask you which is better, chemo or rads....)]
Stage II:  Orchiectomy + Chemo or Orchiectomy + Radiation
Stage III:  Orchiectomy + Chemo

Non-Seminoma:  Treat based on stage
Stage I: Orchiectomy + Chemo (favored) or Orchiectomy with surgical removal of the LN (I.e. RPLND)
Stage II: Orchiectomy + Chemo or Orchiectomy + RPLND, although most will do Orchiectomy + both Chemo and RPLND
Stage III: Orchiectomy + Chemo

Some info on relapse: If tumor markers rise after Surgery or Radiation - More chemo is given. Be aware that alternative regimens to BEP and EP are used, but you don't need to know them (...so I won't list them!) If patient has a non-seminoma and have masses found on re-imaging - consider teratoma with surgical removal.

Complications: Infertility, so recommend sperm banking prior to Tx
                         Secondary Malignancies, esp AML, from Chemo

Overall, there is a lot of info on testicular tumors that technically can be asked on boards, but like I stated - just know basic workup, markers and some info about treatment options...

January 5th - MHH - Aortic Stenosis

Today at Morning Report, a case was presented by the cardiology service regarding a consult for a patient with aortic stenosis.  Here is a brief overview of the disease for board purposes...





Predisposing conditions: Most common cause is calcific disease of the normal trileaflet valve, but patients with congenital bicuspid valves also get AS.  Patients with this congenital condition usually present earlier, usually between ages 40-60, as opposed to those with calcific disease who presents after 60.    Rheumatic fever is a cause as well, but rarely without involvement of mitral valves. Also, keep in mind that patients with AS commonly have concurrent coronary artery disease. Patients with Heyde's syndrome, associated with acquired von Willebrand syndrome, can have AV Malformations and GI Bleeds in association with Aortic Stenosis.

Clinical presentation: In the earlier stage of the disease, patients can present with exercise intolerance and fatigue.  Remember the triad of Angina, Syncope and LV Failure.  These symptoms also portend prognosis, with medical treatment leading to survival rates of about 5 years with angina, 3 years with syncope, and 2 years with LVF.   

Physical Exam:  The murmur is a harsh mid-late systolic cresendo-decresendo (i.e. "diamond shaped" murmur) at the RUSB or suprasternal notch.  It can radiate into the carotids.  The carotids develop a slow upstroke. The aortic component of the 2nd heart sound is usually diminished, and as the condition gets worse, A2 can disappear. Also, due to radiation of the murmur, some elderly patients may have the highest intensity at the apex.  Overall, the murmur intensity decreases with Valsava and intensifies with squatting.  An S4 is usually present, and a click may be present in those with bicuspid valves. 

Diagnosis:  Doppler is needed, and used to classify based on severity (the valve area is probably all you need to know for boards!). Patients also need repeat TTE's yearly, sometimes more frequently if severe dz present. 

Severity   Mean gradient (mm Hg)     Aortic valve area (cm2)
Mild                < 25                                      >1.5
Moderate          25-50                                 1-1.5
Severe              >50                                    <1
Critical            >80                                     <0.5



Treatment:
Medications: Judicious use of diuretics if patient has symptoms of volume overload, but this can cause problems in patients with severe disease.  Same with afterload reduction - use carefully.  Treat HTN with usual agents. Some studies have shown that "statins" reduce the progression of the disease. 

Surgery  (i.e. aortic valve replacement) is recommened for:
      -Severe AS with Depressed EF
      -Patients that have symptoms (angina, syncope, NYHA II or greater)
      -Asymptomatic and needs other surgery (i.e. CAGB)

SO... what is aortic sclerosis?  Patients with this condition have a thickened valve but without outflow obstruction. Therefore, they are usually asymptomatic - although the murmur findings are very similar to aortic stenosis, so it is hard to distinguish on physical exam.