Tag Archives: Ambulatory Report

11.16.15 VA Ambulatory Report Pearls – Pericarditis + Autoimmune Disorders and a word on AIP

We discussed the overlap between pericarditis/pericardial involvement and systemic autoimmune diseases. Below is a list of autoimmune disease, the type of pericardial involvement, and the estimated frequency of involvement (stolen from UpToDate).

Systemic Disease Frequency of pericardial involvement Type of pericardial involvement
Connective Tissue Diseases
Systemic lupus erythematosus > 50 Pericarditis, pericardial effusion
Rheumatoid arthritis 10-30 Pericarditis (10), pericardial effusion (30)
Systemic sclerosis 20-60 Pericarditis, pericardial effusion
Polymyositis and dermatomyositis < 10 Pericarditis, pericardial effusion, cardiac tamponade
Mixed connective tissue disease 10-30 Pericarditis, pericardial effusion
Sjogren syndrome < 30 Pericarditis
Behcet’s disease Rare Pericarditis
Granulomatous Diseases
Sarcoidosis Rare Pericarditis, pericardial effusion
Autoinflammatory Diseases
Familial Mediterranean Fever 1 Pericarditis
TRAPS Rare Pericarditis

Finally, we discussed a possible diagnosis of acute intermittent porphyria (AIP). Here a couple of learning morsels:

  • Autosomal dominant
  • Symptoms, which are usually triggered by a variety of factors – most commonly medications – are often vague and nonspecific making the diagnosis of AIP difficult
  • Two most common categories of presenting symptoms are gastrointestinal and neurologic in nature and symptoms typically resolve between attacks though patients can develop chronic symptoms
    • Abdominal pain = most common, earliest symptom in AIP
      • Occurs in 85-95% of patients with acute attacks
      • Severe, steady, and poorly localized
      • Commonly present with constipation, bloating, nausea, vomiting, and signs of ileus with abdominal distension and decreased bowel sounds
    • Peripheral neuropathy
    • Effects on the autonomic nervous system – tachycardia (80% of attacks), hypertension, sweating, restlessness, and tremor
    • Insomnia
    • Neuropsychiatric manifestations – anxiety, restlessness, agitation, hallucinations, hysteria, disorientation, delirium, depression, phobias, and altered consciousness
    • Neuropathic bladder dysfunction – dysuria, hesitancy, retention, and incontinence
      • Dark or reddish-brown urine is often an early symptom
  • Diagnosis = spot urine for porphobilinogen, porphyrins, and creatinin
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11.4.15 – VA Ambulatory Report Pearls on Vertical Nystagmus + Oculomasticatory Myorhythmia

Approach to Nystagmus

Two general categories of nystagmus are jerk versus pendular.

Jerk nystagmus is what we are usually referring to when we say horizontal or vertical nystagmus and is described by the trajectory and the provoking factor (e.g., gaze-evoked positional). Examples of this are upbeat or vertical, downbeat, horizontal, or torsional.

Pendular nystagmus have a sinusoidal oscillation (think a sine wave as depicted below). The important fact here is that there is never a fast phase here or a “jerking.” It can move in a torsional, horizontal, vertical, or combination of these that results in various patterns (e.g., circular, elliptical). We discussed pendular nystagmus in the discussion of oculomasticatory myorhythmia seen in Whipple’s disease – more on this later.

math6_4f_1

Causes of Vertical Nystagmus

The primary source of data regarding causes of vertical nystagmus is from Baloh et al’s 1989 paper in ze French literature (Revue neurologique) that reviewed the clinical features of 106 patients (86 with vertical nystagmus) from UCLA’s Eye Movement Laboratories. The n is arguably small but the largest cohort of data that we have currently.

Key takeaways include:

  1. Brainstem/cerebellar stroke + cerebellar degeneration account for almost half of the cases.
  2. This finding on physical exam should prompt further evaluation for primary CNS etiologies and may include prompt advanced imaging.

Here is the summary of their findings:

  • Brainstem/cerebellar stroke (n=23, 27%)
  • Cerebellar degeneration – acquired or hereditary (n=17, 20%)
  • Demyelination – mostly MS and small proportion is focal demyelination (n=14, 16%)
  • Tumor/structural lesion – for example, brainstem gliomas and mets (n=10, 12%)
  • Infection – viral meningitis/encephalitis and tuberculoma (n=4, 4%)
  • Metabolic – Wernicke’s encephalopathy (n=3, 3%)
  • The rest (which account independently for n=1 or < 1%)
    • Vascular malformations – A-V, aneurysm
    • Inflammation – sarcoid, Behcet’s
    • Autoimmune conditions – paraneoplastic antibodies, anti-glutamic acid decarboxylase antibodies
    • Meds – anticonvulsants, opiates, anticholinesterase insecticides
    • Trauma
    • Congenital NOS
    • Voluntary
    • Idiopathic

Oculomasticatory myorhythmia

  • Pathognomonic for Whipple’s disease.
  • Pendular oscillations of the eyes that diverge and converge when a patient is looking at the examiner that is associated with synchronous masticatory contractions.
  • Usually associated with vertical and horizontal gaze palsy.
  • Of note, if this finding is present there is no indication for jejunal biopsy nor blood or CSF PCR for Trophyeryma whippelii before initiating treatment with trimethoprim-sulfamethoxazole.

VA AM AMBULATORY REPORT PEARLS 10.23 – CIS and MS

From the Daily Ditty

Attached is the graphic from the 1997 NEJM Paper “Small-Vessel Vasculitis” that we discussed as a nice image to keep for your future teaching files.

Vasculitidies

From Ambulatory Report

We reviewed the sensory pathways with a couple of key learning points summarized in a table I created as follows:

  Dorsal column medial lemniscus tract Anterior spinothalamic tract
Decussation Medulla Spinal cord
Exit from spinal cord Dorsal horn to dorsal root ganglion Dorsal horn to dorsal root ganglion
Type of sensation Touch, vibration, proprioception Pain, temperature, can carry touch as well
Blood supply Two arteries – posterolateral spinal arteries One artery – anterior spinal artery

We discussed the “Clinically Isolated Syndrome” or CIS which is used to describe a first episode of neurologic symptoms. Patients with CIS may go on to develop MS.

Here are your pearls on CIS:

  • CIS = first episode of neurologic symptoms lasting at least 24 hours
  • Caused by inflammation/demyelination in one or more sites in the CNS
  • Can be single sign or symptom or more caused by lesions in multiple locations
  • If CIS is accompanied by MRI-detected brain lesions, there is a higher likelihood of a second neurologic event
  • In various studies, the likelihood of developing MS for patients with CIS + MRI lesions ranges from 60-80%. Without MRI findings, the long-term incidence is approximately 20%.
  • The most common presentations for CIS are:
    • Sensory symptoms
      • Numbness, tingling, pins-and-needles, tightness, coldness particularly of the limbs or trunk
      • Swelling of the limbs or trunk
      • Intense itching in the cervical dermatome, usually unilateral
    • Visual changes
      • Optic neuritis is the most common which presents as acute or subacute unilateral eye pain worsened with eye movement and is typically followed by visual loss
      • Diplopia
    • Motor symptoms
      • Leg weakness > arm weakness
      • Leg spasticity > arm spasticity
    • Issues with coordination
      • Gait imbalance
      • Difficulty performing coordinated actions with the arms
      • Vertigo is reported in 30-50% of MS presentations
    • Physical exam findings
      • Dysmetria
      • Hypotonia

VA AM AMBULATORY REPORT PEARLS 9.21 – SUBACUTE COMBINED DEGENERATION

Big thanks to Natalie Witek for joining us from neurology this morning to walk us through a great case of subacute combined degeneration. Oh the wonder of vitamin B12 deficiency!

  • We reviewed the importance of the neurology exam and spent some time discussing a couple of physical exam tests and maneuvers. I’ll focus on two here:
    • The funduscopic exam
      • The Standard Medicine 25, a team of physicians led by Abraham Verghese which has developed a website along with teaching seminars to review a collection of 25 bedside physical exam skills for internal medicine physicians, has a fantastic review of the funduscopic exam including tips for using the traditional ophthalmoscope vs. the PanOptic ophthalmoscope. Find the link to the website including videos of both the ophthalmoscopes in action: http://stanfordmedicine25.stanford.edu/the25/fundoscopic.html.
    • The head impulse test
      • Natalie, with the use of Geoff Buckle’s head, demonstrated the head impulse test. To recap:
        • Place hands gently on either side of the patient’s head and ask them to keep their eyes focused on your nose.
        • Turn their head quickly about 15 degrees to one side or the other.
        • The NORMAL response is that the eyes remain on the target. An ABNORMAL response is that the eyes leave the target towards the direction that the head has been moved and then they saccade back to the target.
        • You repeat the test on the other side.
        • If the test is abnormal, this implies a peripheral vestibular lesion (inner ear or vestibular nerve) on the side that the abnormal finding occurred.
      • The maneuver is commonly performed in the work-up of vertigo.
      • A pearl from Natalie is that even if it is abnormal, it is reassuring in that it implies a peripheral vs. central lesion.
  • Differential for dorsal column disease
    • Symptoms = loss of proprioception and vibratory sensation and variable weakness
    • Deficiencies
      • Vitamin B12 deficiency – subacute combined degeneration
      • Copper deficiency myeloneuropathy
      • Vitamin E deficiency
    • Toxins
      • Nitrous oxide inhalation – due to inactivation of vitamin B12
    • Infections
      • Syphilis – tabes dorsalis
      • HIV vacuolar myopathy – the most common cause of HIV-related myopathy!
    • Structural
      • Cervical  spondylotic myelopathy
      • Epidural metastases
    • Genetic
      • Friedreich’s ataxia
    • Systemic
      • Multiple sclerosis
  • We discussed the manifestations of vitamin B12 deficiency, reviewed macrocytosis and other peripheral smear findings, as well as touched on the therapy of vitamin B12. There is an interesting article in JGIM http://www.ncbi.nlm.nih.gov/pmc/articles/PMC1831618/), which touches on outcomes in Vitamin B12 therapy of subacute combined degeneration (of note N=57). It highlights that B12 therapy is reported to stop progression and improve deficits though complete resolution of symptoms is rare.

VA AM REPORT PEARLS 9.16 – LIVER CYSTS AND POLYCYSTIC LIVER DISEASE

We were able to discuss the differential for solitary liver lesions, features on ultrasound that are concerning for complex cysts, discussion of radiologic features c/w various lesions, and Rabih Geha’s fabulous teaching on polycystic liver disease.

Here are the pearls:

Differential of Liver Cysts

We discussed the differential of solitary liver lesions, however, here let’s focus on the specific differential for cystic liver lesions. You can think about this as differential by splitting it into two categories: simple cysts vs. complex cysts. Simple cysts appearing as fluid-containing lesions (anechoic) without any evidence of complex internal features (internal septations, calcification, nodularity, wall thickening/irregularity, hemorrhagic/proteinaceous contents). Complex cyst contain one or more of the complex internal features above.

  • Simple cysts
    • Simple primary hepatic cysts (benign developmental hepatic cyst)
    • Bile duct hamartoma (von Meyenburg complex)
    • Polycystic liver disease
    • Caroli disease
      • Rare autosomal-recessive disorder characterized by multifocal saccular dilation of the intrahepatic bile ducts
  • Complex cysts
    • Neoplasm
      • Primary: biliary cystadenoma or cystadenocarcinoma, squamous cell carcinoma
      • Secondary: cystic metastases
      • HCC (would be atypical presentation)
    • Infectious
      • Abscess
      • Pyogenic
      • Amebic
      • Echinococcal cyst (hydatid cyst)
    • Posttraumatic/miscellaneous
      • Pseudocyst
      • Hematoma
      • Traumatic intrahepatic hemorrhagic/infarction

The Importance of Imaging

Here is a table with characteristic features of liver cysts pilfered from the Radiology journal.

  Ultrasound CT MRI Pattern of contrast enhancement
Simple hepatic cyst -Anechoic

-Thin walled

-Thin walled

-Homogenous

-Homogenous (low intensity on TI, high intensity on T2) None
Cystadenoma -Anechoic

-Internal septations

-Multiloculated

-Calcifications

-Homogenous (low intensity on TI, high intensity on T2) Wall enhancement
Echinococcal (hydatid) cyst -Internal septations +/-daughter cysts

-Calcifications

-Thick walled

-Calcifications

-Internal septations

-+/- daughter cysts

-Hypointense rim on T1 and T2 Wall may enhance
Polycystic liver disease Innumerable simple cysts Innumerable simple cysts -Homogenous (low intensity on TI, high intensity on T2) None

Polycystic Liver Disease

Attached is a review on autosomal dominant polycystic liver disease courtesy of Rabih. Here are the CliffsNotes:

  • Autosomal dominant polycystic liver disease (ADPLD) can exist as a separate entitiy as well as in conjunction with autosomal dominant polycystic kidney disease (ADPKD).
  • ADPLD presents with multiple cysts that are large, variable in size, and can present within the liver parenchyma but not in contact with the portal triad or be adjacent to the portal triad.
  • There is an age-dependent increase in the frequency of hepatic cysts in patients with ADPKD-associated ADPLD (20% in third decade à 75% by the seventh decade).
  • Women with ADPKD are more likely to have larger liver cysts and have more cysts than men.
  • Exposure to estrogen increases the likelihood for liver cysts in patients with ADPKD-associated ADPLD.
  • There is an association with vascular malformations in patients with isolated ADPLD namely cerebral aneurysm and aortic root dilation though causality has not been proven.
  • As was the case with the patient presented today, patients are often asymptomatic and once they develop symptoms these are usually secondary to mass effect from the cysts on nearby anatomic structures.

VA AM REPORT PEARLS 9.9 – TENOFOVIR-INDUCED RENAL TUBULAR ACIDOSIS

Today we discussed a AKI, normal AG metabolic acidosis, and c/f Fanconi syndrome in the setting of NRTI-induced Fanconi syndrome.

  • Fanconi syndrome
    • Characterized by the following:
      • Hypophosphatemia (due to phosphaturia)
      • Renal glucosuria (glucosuria with a normal plasma glucose concentration)
        • NOTE: Remember that you typically do not induce significant glucosuria at serum glucose < 200 mg/dL. This patient had a serum glucose of 203 mg/dL and urine glucose of 500 mg/dL.
      • Moderate to severe hypokalemia
      • Proteinuria
      • Non-gap hyperchloremic metabolic acidosis
  • Etiologies of Fanconi syndrome can be separated into the following:
    • Congential/genetic conditions (i.e., disorders of tyrosine metabolism, galactosemia, fructose intolerance, Wilson disease, mitochondrial cytopathies)
    • Acquired causes (i.e., think medications, heavy metals, MGUS)
      • One of the main acquired causes of Fanconi syndrome includes the following medications and in our patient we discussed the possibility of tonofovir-inducing proximal RTA.
      • The short list:
        • Aminoglycosides
        • Cisplatin
        • Ifosfamide
        • Valproic acid
      • Though not on the list, tenofovir has been implicated in acquired Fanconi syndrome and the primary literature review reveals that there are case reports of this though it is not a widespread entity. See linke to article: Acquired Fanconi Syndrome with Tenofovir Therapy
    • Tenofovir and nephrotoxicity
      • There are no formal guidelines on monitoring renal impairment when taking tenofovir. Given the irreversible renal damage, it is suggested that patietns should be followed closely in the 1-1.5 years after initiating tenofovir with a urinalysis, serum creatinine, and potassium.
  • The importance of the urine anion gap [(Na + K) – Cl]
    • Measurement is helpful in evaluating patients with a normal anion gap (hyperchloremic) metabolic acidosis and estimates the urinary ammonium excretion
    • Positive indicates that Na + K > Cl à c/w distal RTA
      • Positive urine anion gap is c/w low or normal ammonium excretion and can be indicative of distal RTA which is a derangement in ammonium excretion
    • Negative indicates that Cl > Na + K à c/w proximal RTA
      • Ammonium is normal excreted with chloride and thus increased urinary ammonium excretion usually occurs with increased urine chloride
    • Note: The urine anion gap can be inaccurate when unmeasured anions (i.e., bicarbonate) are present
  • In addition, we touched on the renal tubular acidoses at large and the summary of clinical features is below:
Type 1 Type 2 Type 4
Primary defect Impaired ability to excrete H+ in DISTAL tubule Impaired HCO3 reabsorption in PROXIMAL tubule Decreased secretion or effect of aldosterone
Plasma bicarb < 10 12-20 > 17
Urine pH pH > 5.5 pH < 5.5 pH < 5.5
Urine anion gap Positive Negative Positive
Plasma potassium Low-normal Low-normal High
Nephrocalcinosis Common Rare Rare