Category: General Medicine

My PSA is high but I don’t have symptoms. Do I need a biopsy for possible prostate cancer?

PSA, PHI, Prosate Cancer

The Prostate Health Index (PHI) test and when it can be useful to diagnose prostate cancer

 

 

Our patient today had a PSA of 7.4.  He is a 67 year old Caucasion male with no other medical issues other than episodic high blood pressure.  He does report some mild urinary symptoms mostly involving going to the bathroom frequently but his urine stream is normal and he has no incontinence or dribbling.

He has had PSA testing in the past.  At one point it was 7.1 but after he saw a holistic practitioner it decreased to 4.5.  Approximately 6 months later it was 7 again and his primary care doctor thought it was worth evaluating further.  He did not want a biopsy and so had a prostate ultrasound performed and an examination by a Urologist.  His prostate was smooth and the ultrasound was benign so it was considered appropriate to just watch him.

The new PSA was 7.4 which does represent an increase from previous.  In addition, his urinary symptoms has worsened but not drastically so.  He still had a normal stream but had increased frequency in compared to before.

For a better risk assessment, we performed a Total and Free PSA.  Many physicians are not familiar with the Free PSA.

In men over 50 with an elevated Total PSA, the %Free PSA gives an estimate of the probability of prostate cancer

Our patient had a Total PSA = 7.4 and a %Free PSA – 22%. In this case, the ideal %Free PSA should be over 25%.  The lower the %Free PSA the greater the greater the probability of cancer.  Here is a table that shows the Estimated Probability of prostate cancer.

PSA(ng/mL)      Free PSA(%)     Estimated(x) Probability
                                     of Cancer(as%)
0-2.5              (*)               Approx. 1
2.6-4.0(1)         0-27(2)                   24(3)
4.1-10(4)          0-10                      56
                   11-15                     28
                   16-20                     20
                   21-25                     16
                   >or =26                   8
>10(+)             N/A                      >50


Given that our patient's Total was in the 7 range and the high Free PSA, the probability of cancer is low but still significant at 16%



Here is a nice graph from Quest: showing our possible decision tree.

 

This patient had a normal rectal examination so the liklihood of cancer based on the testing is still low but significant.  The next options are to refer for a biopsy, which he did not want, wait to re-test in 3-6 months to see how the numbers may change or to see if we can’t further risk stratify.

If we want to further risk stratify then we can consider using the Prostate Health Index (PHI).

This patient, like many, fall into that category that often result in a biopsy but don’t have cancer.  See our image above.  Of course, one never knows and that is why the biopsy is performed because who want to be the statistic that ends up with prostate cancer.

To help with this decision, researchers looked for an alternative biomarker which led to the discovery of the PHI.  PHI offers greater specificity in identifying patients that truly need a biopsy.

Phi is the only FDA approved blood test that is 3 X more specific than PSA alone.

The phi combines the use of another biomarker called p2PSA which is an isoform of free PSA that is the most prostate cancer specific biomarker found.  When p2PSA is used with the total PSA, and free PSA, the diagnostic accuracy improves to 71%

Phi-table-large

If you are like our patient who falls into this gray zone area and are concerned about getting a biopsy. Please call us at 352-235-9636 or Toll Free at 855-474-8522

or Schedule an Online Diagnostic Consultation

What is the Cost of EDS Testing?

Collagen, EDS
Collagen

What is the cost of EDS testing?

We answered this question for a patient without insurance the other day. We asked for client pay pricing at a number of large genetic testing companies that perform EDS testing. To clarify, EDS testing for which we obtained pricing was usually for panels that tested for multiple subtypes of EDS as well as Marfan and syndromes associated with vascular aneurysms. The reason for this is that with improvement in molecular diagnostic technology, we know that there is great variability between individuals and the old classifications based on pure clinical features is not as relevant.  The clinical features can hint at one type of EDS over another but the reality is that every individual has different manifestations based on their own private genetic alterations within the various proteins involved in collagen synthesis, assembly and degradation.  As a result, it is much better to do broad panel testing.

I have had numerous patients prove me wrong.  Based on clinical criteria, I have diagnosed Hypermobile type only to find out with testing that they had classic or another version of EDS.  The variability between individuals is what makes us unique.

So what is the cost of EDS testing?

$1500-$1750 not including medical consultation

Genetic Testing for BRCA

BRCA Testing
Breast Cancer Counseling

Genetic Testing for the BRCA genes in Hereditary Breast and Ovarian Cancer

is an important method for identifying patients who are at high risk.  The difficulty has always been identifying those at high risk.

Testing only Women with a family history of breast or ovarian cancer will identify only half the women with mutations

There becomes two issues: 1: Identifying Women at High Risk for Breast and Ovarian Cancer and 2:The established criteria where insurance will pay for testing.

The National Comprehensive Cancer Network (NCCN) criteria for patients who should have BRCA1 and BRCA2 testing are:

Family History of Breast Cancer
  • Relative with a previously identified BRCA1 or BRCA2 mutation
  • 1st/2nd-degree blood relative who meets any criteria in below sections
  • 3rd-degree relative with breasta and/or ovarianb cancer and ≥2 close blood relativesc with breast and/or ovarianb cancer
Personal History of Breast Cancera
Age at Diagnosis Additional Criteria (only 1 of the following is necessary)
≤45 y
  • No additional criteria necessary
≤50 y
  • ≥2 primary breast tumorsd
  • ≥1 close blood relativec with breast cancer
  • Limited family history
≤60 y
  • Breast cancer that is negative for ER, PR, and HER2 (triple negative)
Any age
  • Patient is male
  • ≥1 close blood relativec with breast cancer diagnosed by age 50 or with epithelial ovarian cancer diagnosed at any age
  • ≥2 close blood relativesc with breast cancer
  • ≥2 close blood relativesc with prostate cancer (Gleason score ≥7) or pancreatic cancer
  • ≥1 close male blood relativec with breast cancer
  • Ethnicity (eg, Ashkenazi Jewish) associated with higher mutation frequency
Personal History of Other (Nonbreast) Cancers
  • Epithelial ovarian cancerb
  • Pancreatic or prostate cancer with ≥2e close blood relativesc diagnosed with breast, ovarian,b pancreatic, or prostate cancer (Gleason score ≥7)

Alzheimer’s Disease Signs and Symptoms

brain

Alzheimer’s Disease Signs and Symptoms

Mild Disease State

  • Memory loss or failure
  • Confusion especially about location of places
  • Daily tasks require more time
  • Bad Decisions due to impaired Judgement
  • Loss of Initiative and Spontaneity
  • Mood changes including increased anxiety

Moderate Disease State

  • Short and long-term memory loss
  • Issues with attention
  • Cannot recognize faces/people
  • Difficulty with reading, writing and solving simple number problems
  • Loss of organized thought
  • Unable to learn new steps or processes
  • Tearfulness
  • Wandering behavior often late at night
  • Repeated words or phrases
  • Delusions, paranoia, irritability
  • Loss of impulse control

Severe Alzheimer’s Disease

  • Change in weight; Usually weight loss
  • Seizures
  • Difficulty swallowing
  • Moaning; Grunting
  • Excessively sleepy
  • Bed wetting; Loss of Bladder Control
  • Loss of Bowel Control

The Diagnosis of Alzheimer’s Disease is clinical but other treatable conditions should be ruled out.  For a list of Diagnostic Tests to be performed in suspected Alzheimer’s Disease CLICK HERE

For more INFORMATION on the GENETIC DIAGNOSIS of Alzheimer’s Disease. CONTACT US

 

Coin Shaped Rash from Fitbit Charge

Dermatitis from FitbitNummular Dermatitis: A Coin Shaped Rash from Fitbit Charge

We often see patients for non-genetic related issues.  This week we had a patient with this rash.  He has been wearing a Fitbit Charge for approximately 1 month.  This rash appeared on the inside of his wrist and was incredibly pruritic (itchy).

He was diagnosed with Nummular (Circular) Dermatitis.

Nummular means “coin-shaped” and this rash is in the eczema family.  These round to oval, often raised, reddish lesions usually occur on the arms and legs.  They can scale after a time and may have smaller bumps or vesicles that can rupture and secrete a clear liquid.

The cause is not absolutely established but is often associated with dryness of the skin often worsened by abrasion and exposure to an external antigen.  In this case, he wore his Fitbit contstantly including during exercise.  The combination of constant friction to that area, combined with sweat and the lack of cleaning of the Fitbit likely set up the conditions for his rash or dermatitis.

Although, he did not previously have an allergy to nickel or other metals, the fact the lesion was over the metal clasp of the Fitbit was suggestive.

The Treatment

The Coin-Shaped Rash or Nummular Dermatitis responded well to topical hydrocortisone and topical Benadryl (for itching). He was asked to move his Fitbit to the other arm.  He wanted to continue to wear it so he was advised to apply some type of barrier cream to the region where he was going to wear it.  We suggested Aquaphor.

After 1 month, he was able to move his Fitbit back to his left wrist.  He cleaned his Fitbit regularly.  In addition, he would take breaks from wearing it so it was not constantly on his hand.  He applied Aquaphor to his wrist twice a day and cleaned his wrist after any significant exercise with repeat application of the Aquaphor.  He also started to use a regular moisturizer on his entire forearm surface.  The rash did not re-occur.

Importantly, Aquaphor did not impair the functionality of his Fitbit.

 

 

A Typical Genetics Consultation

genetics consultation

What to Expect with a Genetics Consultation

The goal of a Genetic Consultation can be for Diagnostic, Disease Management and Optimization or Counseling purposes.  As we learn more about the role of genes and their contribution to birth defects, diseases, disease risks, and medication metabolism (pharmacogenetics), we can use this information to provide Personal Medicine and Precision Medicine.

Before the Genetics Consultation or Genetics Visit

A Genetics Consultation is more involved than a typical medical office visit.  To assess the role of Genetics in the disease process, we need a lot of information in order to make the most of your visit.  Typically, visits may last from 60-90 minutes.

Before the appointment:

  • Write down your main questions and what you would like answered
  • In advance, please have your medical records sent to us so they can be reviewed prior to your visit
  • Please ask your family members and get as much family health history as possible
  • Please bring all of your medications or a list of them with dosages

What to Expect during your Visit

  • A review of your Medical History
  • A review of your pregnancy and childhood history
  • A review of your developmental history
  • A review of your family history
  • A Physical Examination
  • A review of your Laboratory testing, x-ray studies and any other testing you may have performed

Genetic Counseling

Depending on your condition and the reason for your visit, anticipate that we may begin the education process to help you understand the:

  • Role of genes and heredity in contributing to the disease process
  • Risk of disease manifestation and disease recurrence and risk of transmission to other family members
  • Different testing options and the advantages and disadvantages of each
  • Prognosis and options for management

For more information about our Genetics Consultation services, please contact us at 855-474-8522

To refer a patient for Genetics Evaluation Services, please fax a Referral Request to 877-465-6936

Genetic Medicine Clinic | TeleGenetics |Personalized Medicine | 352-235-9636

Unexplained but Persistent Rash

Sign of Lesar-Trelat

 

Why Unexplained and Persistent Rash may need further evaluation – The Signof Lesar-Trelat

Today I saw a 64 year old woman who had a persistent rash on her legs, arms and back. The rash was small raised bumps that were red or blanched. The rash itched tremendously and she had only minor relief with topical cortisone.

She went to an Urgent Care center and was prescribed prednisone a steroid to take. After taking the first dose, she felt dizzy and so stopped this medication. She then made an appointment with a Dermatologist. The first dermatologist prescribed a stronger topical steroid and did a skin biopsy since the rash was persistent. The steroid cream was too expensive and the patient was unable to fill it. The biopsy results showed inflammatory dermatitis. She then went to a second dermatologist who then performed a shave biopsy on a different lesion on her back.  The pathology results showed eosinophilic infiltration and non-specific dermatitis.

She came to our clinic for further evaluation.  A complete physical examination did not reveal any significant findings.  A more thorough medical history was obtained.  She then reported that at one point, she had unexplained abdominal pain that was transient but lasted a few months and as part of the evaluation, a CT-abdomen was performed which showed a small lesion over her kidney.  The recommendation was to follow-up with a repeat CT scan in 6 months which due to travel and other circumstances she was unable to do.

A follow-up CT scan showed a mass above the left pole of the kidney.

The Sign of Lesar Trelat – is defined as the sudden appearance of skin lesions caused by an associated cancer.  The more typical skin lesions are seborrheic keratosis but other skin findings can also be found.  The sign was first described by Dr. Leser and Dr. Trelat who noted skin angiomatosis in patients with intra-abdominal cancer.  The cause of the various skin findings is a consequence of growth factors secreted by the cancer.  It is usually associated with a type of cancer called an adenocarcinoma.

 

Age Limits for Steroid Inhalers

inhaler

Steroid inhalers are commonly used for mild persistent asthma and more severe disease.  However, for most practitioners, the inhalers are interchangeable for the most part in terms of effectiveness.  However, an area often over-looked is the safety data for these inhalers is often missing in certain age groups especially very young age groups.

Of course, a health care provider can always prescribe these off-label and in many cases there is a clear clinical need.  Drug safety never trumps patient safety.  However, one of the issues that arises and the reason for this blog post is that we recently had Medicaid denial based on age limits.  Since we had to look it up, here it is:

Brand Name Generic Name Prescribing Information – Minimum Age (years)
Advair Diskus fluticasone/salmeterol 4
Advair HFA fluticasone/salmeterol 5
Aerospan flunisolide 5
Alvesco ciclesonide 5
Asmanex mometasone 4
Asmanex HFA mometasone 12
Dulera mometasone/formoterol 12
Flovent Diskus fluticasone 4
Flovent HFA fluticasone 0
Pulmicort Flexhaler budesonide 5
Pulmicort Respules budesonide 0
Qvar beclomethasone 5
Symbicort budesonide/formoterol 5

 

 

 

 

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