Football Saved my Life! A Synopsis of "Hereditary Hemochromatosis" from American Family Physician

Hereditary Hemochromatosis

BRIAN K. CROWNOVER, MD, and CARLTON J. COVEY, MD, Nellis Family Medicine Residency, Nellis Air Force Base, Nevada

Am Fam Physician. 2013 Feb 1;87(3):183-190.

P.S I hope you enjoy my little football side note I heard on TV while waiting for the Super Bowl to start last year. 

     Hemochromatosis is the accumulation of iron in the body. This is due to an autosomal recessive disorder of the HFE gene, which regulates hepicidin through the C282Y protein  Normally, when there is too much iron in the body, the liver secretes hepicidin, which lowers iron absorption in the intestine and decreases iron release from macrophages. Only 10% of homozygous patients are symptomatic.
     The classic triad for the disease is cirrhosis, diabetes, and bronze skin. Common symptoms are weakness, lethargy, impotence, and arthralgia. These are very general features,  Once lab work is done, an abnormal liver function test should prompt an evaluation hemochromatosis if the hisotry and physical did not tip you off. A serum ferritin and transferrin saturation should be ordered. If the transferrin saturation is greater than 45% or the serum ferritin level is greater than 300 ng/mL in men or 200 ng/mL in women, further testing for the HFE gene should be done. At this point the patient may be referred to a gastroenterologist if the patient is heterozygous for the gene or if the ferritin level is greater than 1000 ng/mL.
     First line treatment for hemochromatosis is phlebotomy. Each donation of 500 ml whole blood removes 200-250 mg of iron and lowers serum ferritin by 30 ng/ml. (this reminds me of a story I heard about a Packers fan who would donate his blood every month, for decades,  to pay for his season tickets. He later found out he had hemochromatosis, so the Packers really saved his life!). Phlebotomy should be withheld if the hemoglobin is at or below 12.5 g/L. Most of the signs and symptoms should resolve from the treatment. Chelation therapy could be done as a second line treatment. Dietary restriction is not necessary and iron supplementation (as well as vitamin C) is not recommended.
     Iron avidity is a desire or craving of iron, which is a complication of phlebotomy, and due to overcorrection of the iron overload. According to the lab work, serum ferritin will be low/normal, and the transferrin saturation will be elevated. Oddly, this is treated with iron supplementation (when there was elevated transferrin saturation in hemochromatosis, we tried to reduce the iron, and now we supplement the iron with the same lab value?!?!) Iron avidity could be due to a GI bleed causing anemia, or the avidity may resolve spontaneously.
    If a patient is found to have hemochromatosis and cirrhosis, a screening ultrasound should be performed 1-2 times a year. If a lesion less than 1 cm is found, increase the screening to every 3 -6 months. If it is larger than 1 cm, refer to a gastroenterologist for CT and biopsy.

A Synopsis of "Evaluation and Treatment of Endometriosis" from American Family Physician

A review of "Evaluation and Treatment of Endometriosis"

SARINA SCHRAGER, MD, MS; JULIANNE FALLERONI, DO, MPH, and JENNIFER EDGOOSE, MD, MPH, University of Wisconsin School of Medicine and Public Health, Madison, Wisconsin

Am Fam Physician. 2013 Jan 15;87(2):107-113.

     Endometriosis is the presence of endometrial cells outside of the uterus. They are most often found in the peritoneum, around the ovary, or in the cul-de-sac between the rectum and vagina. There are several theories about how the tissue got there (retrograde menstruation, embryological development, or through lymphatic/ vascular channels) but no one knows for sure. It has a wide range of symptoms from dysmenorrhea to abdominal, pelvis, or low back pain, to no symptoms at all. The physical and pelvic exam varies widely as well. The diagnosis is made clinically and there are no labs that can help you. CA125 has been researched a lot but has shown limited value at this point. Transvaginal ultrasound can be helpful in diagnosis and is the imaging modality of choice. Laparoscopy can help, but it is very invasive something only to be considered down the line.
    Whats great about this disease is that the first line treatment is NSAIDs.  This medication is helpful for a lot of the diseases on the differential, so at least the patient will get relief while your confirm a diagnosis. Oral contraception, vaginal ring, and depot medications have also been effective, but if your patient is trying to conceive, then you may want to consider a referral to a gynecologist for a surgical evaluation.

Two Minute Drill- The Pathophysiology of Appendicitis

     There are four stages. First there is obstruction and hyperperistalsis. This leads to cramping and vomiting. The second stage is an increase in intraluminal pressure, which leads to a decrease in venous pressure. Ischemia and ulceration occurs.  This causes invasion of bacteria through the wall of the organ. In stage three, the infection spreads, causing inflammation and pain. There is also associated swelling, hypoxia, gangrene and peritonitis. Stage four is perforation. The whole thing can happen in 1-2 days.

Diagnosis of Iron Deficiency Anemia- A Synopsis from the American Family Physican article "Iron Deficiency Anemia: Evaluation and Management MATTHEW W. SHORT, LTC, MC, USA, and JASON E. DOMAGALSKI, MAJ, MC, USA, Madigan Healthcare System, Tacoma, Washingtonr

This article is a synopsis of diagnosis of iron deficieny anemia taken from the article:

Iron Deficiency Anemia: Evaluation and Management

MATTHEW W. SHORT, LTC, MC, USA, and JASON E. DOMAGALSKI, MAJ, MC, USA, Madigan Healthcare System, Tacoma, Washington

Am Fam Physician. 2013 Jan 15;87(2):98-104.

     Iron deficiency anemia was my favorite anemia in medical school because it was the easiest one to remember, and was my go-to choice on long multiple choice exams.  The lab results always had a microcytic anemia,  low serum iron, low transferrin, and a HIGH TIBC.  Unfortunately, patients don't come in with scantrons and #2 pencils, so I have to really understand this stuff.
      Even though medical school taught me that I needed microcytic anemia in the diagnosis of iron deficiency, up to 40% of patients can present as normocytic. According to this article, we can keep iron deficiency in the differential for patients with an MCV up to 95um3. At this point we can look at the serum ferritin. Even though a level below 15ng/ml is considered iron deficient,  it is more practical to use a cutoff of 30ng/ml to improve sensitivity.  It the patient has chronic inflammation, we can bump the cutoff to 50ng/ml, because ferritin is an acute phase reactant. If the ferritin level is in the "fuzzy" area ( between 31-99ng/ml), then we have to do more lab tests, especially if the TIBC, serum iron, and transferrin are not congruent with iron deficiency.
     At this point in the diagnosis, we can consider soluble transferrin receptor testing, which measures erythropoiesis.   This will be increased in iron deficiency. If it is low, your patient may not have a problem with iron, but if it is normal, you need to check erythrocyte protoporphyrin levels. This should be increased in iron deficiency.  If its not increased, it may be time for a bone marrow biopsy.
     This article also discusses possible causes, treatment, and screening. Please check it out. The algorithms are great in it too!

A Mental Enema on Heart Failure

     The diagnosis of heart failure is tough to achieve because there are no definitive lab or imagining results, thus the diagnosis is largely clinical. Some common symptoms are dyspnea and fatigue, with signs of volume overload (edema, rales, hepatojugular reflex,  etc.) There are two classes of heart failure. Systolic heart failure is more of the classical variety. The patient will have a low ejection fraction (<40%) cardiomegaly, and a dilated  (left) ventricle. The heart exam may reveal an S3 on auscultation. Commonly, on board exams, the patient will be a man with persistent atrial fibrillation and a previous MI. 

     In diastolic heart failure, the patient is a elderly woman with a history of HTN, diabetes, obesity, or paroxysmal atrial fibrillation. They wont have a history of CAD. The ejection fraction is normal, the left ventricle is not dilated, and the valves are fine. There will be elevated left atrial pressure, decreased left ventricle compliance, or impaired left ventricle relaxation on echo. The left ventricle will have thick walls, a small cavity and thick. There will be a prominent S4 on auscultation. 

     BNP is a popular test to order on a patient with dyspnea if you want to rule out HF. You want to get it below 95 pg per ml. If the patient has already been diagnosed with  HF , BNP can be used to predict mortality, at a level above 200 pg per ml. A 30-50% drop at hospital discharge is a good sign of improved survival and reduced readmission.

     A chest x ray may show congestion, edema, effusion or cardiomegaly and is used to evaluated pulmonary causes of HF.

     The framingham criteria is used to diagnosis HF. If the criteria are not met or if the BNP is normal (and you have clinical suspicion), the you can do an echo. If the criteria is met than you can do an echo as well. 

     The AHA classification can be used to guide treatment.  In class A, the patient is only at high risk , but no symptoms of structural problems. Here, your want to try and reduce the patients' risk factors. In class B, they are at high risk and there is some structural issues, but no symptoms. You can start the patient on an ACE or ARB, and a beta blocker. In class C, the patient is having symptoms in addition to A and B. You may want to add diuretics, digoxin, or consider revascularization, a pacemaker, or valve replacement. Digoxin is given to patients who have CHF with a low ejection fraction and atrial fibrillation with a rapid ventricular response.   In class D , the patient is in end stage HF, refractory to treatment. These patient are going to need inotropes, a transplant and/or hospice. 

  

Tiene dolor? and Other Important Terms When Dealing With The Hispanic Patient

This is a review of the article in Ameican Family Physician

Caring for Latino Patients

GREGORY JUCKETT, MD, MPH, West Virginia University School of Medicine, Morgantown, West Virginia

Am Fam Physician. 2013 Jan 1;87(1):48-54.

     With the increase in Hispanic population in the US today it is important to be aware of the language and cultural differences when seeing these patients. First off, it is much more important to have a trained bilingual translator rather than your own quasi Spanish that you remember from high school mixed with whatever you picked up from your 2 week stint with Rosetta Stone.

     Hispanics have higher rates of obesity, diabetes, and uncontrolled hypertension. The cause is multi-factorial,  with the usual suspects being diet, sedentary lifestyle, and genetics. It is important to be mindful of diseases that they make have that are not so common in the US including neurocystercosis and pulmonary TB. It is specifically mentioned that if you suspect TB, a interferon gamma release assays over a tuberculin skin test.

     This article has a wonderful chart on different herbs, etc. that your hispanic patient may commonly use as home remedies, with their harms and benefits. 

LDL= TC - (Trig's/5 + HDL); A Brief Review of Hyperlipoproteinemia

After finishing the section on cholesterol in Swanson's, I figured it would be a good exercise to rewrite my notes from the section. So heeeere we go!...

Screen all men over 35 and women over 45, or at 20 if they have risk factors for heart disease.
     CAD risk factors
          1) HTN
          2) smoking
          3) DM
          4) men 45 or older, women 55 or older
          5) FamHx of MI in a man 55 or younger or in a woman 65 or younger
          Obesity is not a specific risk factor, but there are strong association

     Total cholesterol should be at or less than 200 mg/dL, and above 240 is considered elevated. The LDL should be at or below 130 mg/dL (or 100 mg/dL if there are at least 2 risk factors). The HDL should be at or greater than 40 mg/dL, or 50 mg/dL if the patient is a premenopausal woman. If the HDL is 60 or greater, you can subtract 1 risk factor from the patients' risk stratification.
     AHA step I and II diets are considered the treatment of choice for high cholesterol.  The step I diet is a diet containing < 30% calories from fat, < 10% calories from saturated fat, and less that 300 mg per day of cholesterol. The step II diet drops the calories from saturated fats to <7% and the total cholesterol to <200 mg per day.
     The best drug for high LDL is a statin.  It can lower LDL by 40% and triglycerides by 10-15%. Make sure to check plasma lipids and LFTs at 3 months and 6 months.
     The second line drug is niacin. It can decrease LDL by 35%, triglycerides by 75%, ApoA by 50%,  and increase HDL by 100%.  LFTs and CK needs to be checked monthly for 3 months, then at 6 months and a year. Some of the side effects (GI, flushing, etc) can be alleviated if you take the niacin with aspirin.
     The third choice is cholestyramine (bile acid sequestrants).
     Hypertriglyceridemia is an independent risk factor for CAD, but there are secondary causes such as DM, alcohol, and OCDs. The drug of choice is gemfibrozil BID.

LDL= TC - (Trig's/5  + HDL)

A Synopsis of the AFP article "Audiometry Screening and Interpretation"

Audiometry Screening and Interpretation

JENNIFER JUNNILA WALKER, MD, MPH, U.S. Army Health Clinic, Schofield Barracks, Hawaii

LEANNE M. CLEVELAND, AuD, Fort Richardson Troop Health Clinic, Joint Base Elmendorf-Richardson, Alaska

JENNY L. DAVIS, AuD, Landstuhl Regional Medical Center, Landstuhl, Germany

JENNIFER S. SEALES, AuD, General Leonard Wood Army Community Hospital, Fort Leonard Wood, Missouri

Am Fam Physician. 2013 Jan 1;87(1):41-47.

     Hearing loss is a common problem in the elderly and is becoming an increasing issue in younger patients due to self inflicted injury through "that damm rock and roll!". It can also be seen in patients exposed to excessive noise from motorcycles,  firearms, and work related trauma. The USPSTF does not rule for or against screening in asymptomatic patients, but screening questionnaires and clinical evaluation during a complete physical (remember those cranial nerve II tests?-whispered voice and finger rub?)can be effective. 

     If hearing loss is suspected, you can further evaluate the patient with pure tone audiometry. There are several products on the market and they are all equally effective. The 2 parameters that are checked are frequency and sound. To check, you can start at 1000 Hz. Start at a clearly audible level. If the patient can hear it, you lower the intensity by 10 db until the patient can no longer hear it. Then increase by 5 db to narrow the results. Start with the good ear first and do it twice in each ear to get an accurate result. At the patients threshold, they should be able to pick up the sound half of the time. By the way, this is called the "Hughson- Westlake method". You can check the other frequencies in this same manner (1000, 2000, 3000 ,4000, 500 and 250). Also make sure you are doing this in a quiet room.  The upper limit for normal is 25-30 db in adults and 15-20 in children. Sometimes the opposite ear will pick up sound and give you a false result, so you can give the opposite ear some ambient noise to distract it 

     Hopefully in your physical exam you did weber's, rinne's, and an otoscopic exam to rule out conduction deficits and canal collapse from floppy cartilage.