This page is dedicated to organizing various examples of standardized exam questions whose answer is hemochromatosis. While this may seem a odd practice, it is useful to see multiple examples of how hemochromatosis will be characterized on standardized exams (namely the boards and the shelf exams). This page is not meant to be used as a tradition question bank (as all of the answers will be the same), however seeing the classic “test” characterization for a disease is quite valuable.
KEY CHARACTERISTICS OF THIS CONDITION (ON EXAMS)
When it comes to standardized exams, each condition has its own “code” marked by key buzzwords, lab findings, clues, etc. If you are well versed in this code you will be able to more quickly identify the condition that is being discussed, and get the right answer on the exam you are taking. Below is the “code” for hemochromatosis.
- Bronze skin: hyper pigmentation is common
- Joint pains may be a complaint (arthropathy common complaint/symptom)
- Weakness/fatigue are also very common chief complaints
- Diabetes: many patients will have either a past history or recent discovery of type 2 diabetes
- Family history of liver cirrhosis and/or diabetes: blood relatives of the patient might have passed away from liver cirrhosis, may have liver cirrhosis currently, and/or also may have diabetes (due to having this same hereditary condition)
- Bronzed skin will sometimes be noticed on the physical (sometimes described as hyper-pigmentation)
- Signs of cardiomyopathy may be present on the workup (such as an extra heart sound, evidence of enlarged heart)
- LFTs are often elevated
- Iron binding studies may appear as below:
- Ferritin: elevated
- Total iron-binding capacity: decreased
- Transferrin saturation: elevated
- Liver biopsy can show:
- Increased iron content
- Signs of liver cirrhosis
Question # 1
A 60 year old man comes to the clinic because he has been noticing a progressive pain and stiffness in her hands for the pat year. The stiffness is worse at the end fate day. He has has noticed fatigue and increased urination for the past year as well. Her past medical history is unremarkable and she does not take any medications. He admits her last doctors visit was about 8 years ago. The patient denies any smoking or alcohol usage. The patient’s vitals are within normal limits and a physical exam reveals dark brown skin. S1 and S2 heart sounds are heard upon cardiac auscultation, and an S3 sound is heard at the apex as well. There is also mild tenderness over the second and third MCP joints bilaterally although there are no signs of synovial thickening. Heberden nodes are present over the distal interphalageal joints of the index and ring fingers on both hands. Labs are collected and the results are shown below:
- Hemoglobin: 15.6 g/dL
- Leukocyte count: 8,000/mm3
- Platelet count: 325,000/mm3
- Glucose: 205 mg/dL***
- Albumin: 3.4 g/dL
- Total bilirubin: 1.0 mg/dL
- Alkaline phosphatase: 50 U/L***
- AST: 60 U/L***
- ALT: 70 U/L***
- Hepatitis B surface antigen: negative
- Hepatitis C antibody: negative
- Rheumatoid factor: negative
What is this patient’s possible diagnosis?
Explanation # 1
Cardiomyopathy (S3 heart sound) + arthropathy + liver dysfunction (increased LFTs) + diabetes (increased urination + increased serum glucose) = hemochromatosis
Question # 2
A 55 year old male comes to the clinic because he has been experiencing generalized weakness and fatigue for the past few years. He has no remarkable past medical history. He uses acetaminophen infrequently for joint pains that he believes are the result of “becoming an old fart”. He does not drink alcohol or use tobacco products. His family history is notable for an older brother who died of liver cirrhosis. Labs are conducted and show that he has a serum ferritin level of 1900 µg/L. What is a possible diagnosis in this patient?
Explanation # 2
Arthropathy + family history of liver cirrhosis + very high serum ferritin level = hemochromatosis
Question # 3
A 57 year old male comes to the clinic because he has a 3 month history of feeling weak and bilateral knee pain. He has also noticed that his skin color has changed during this time. His family history is notable for a sibling who has type 2 diabetes and also liver cirrhosis. A physical exam is notable for bronzed skin and arthritis fo both knees. Lab studies are conducted and reveal increased transferrin saturation, as well as increased ferritin concentration in the serum. A liver biopsy is performed and shows increased iron content as well as signs of liver cirrhosis. What is the likely diagnosis in this patient?
Explanation # 3
Knee pain/arthirits + bronze skin (changed from baseline) + increased transferrin saturation + increased ferritin concentration + increased iron in liver biopsy + liver cirrhosis = hemochromatosis
Question # 4
A 52 year old male comes to the clinic because he has noticed a 3 month history of wrist pains, fatigue, and changes to his skin tone. His family history is notable for an older brother who has a history of diabetes and cirrhosis. A physical exam reveals bronze-colored skin, hepatosplenomegaly, and tenderness of the MCP joints in both hands. Serum studies are collected and are shown below
- AST: 110 U/L
- ALT: 120 U/L
- Ferritin: 1100 ng/ML***
- Total iron binding capacity: 190 µg/dL (ref range = 250-400)
- Transferrin saturation: 85% (ref range = 20-50 %) ***
A liver biopsy is performed and shows increased concentrations of iron as well as the presence of liver cirrhosis. What is the likely diagnosis in this patient?
Explanation # 4
nee pain/arthirits + bronze skin (changed from baseline) + increased transferrin saturation + increased ferritin concentration + increased iron in liver biopsy + liver cirrhosis = hemochromatosis
Question # 5
A 49 year old male is admitted to the hospital because of his congestive hart failure. His family history is notable for 2 first degree relatives who died in their early 40s and had both liver cirrhosis and dilated cardiomyopathy. A physical exam is notable for signs of cardiac enlargement, as well as hyper pigmentation of the skin. A serum glucose is obtained and found to be 340 mg/dL. What is the likely diagnosis in this patient?
Explanation # 5
Family history of liver cirrhosis + cardiomyopathy (enlarged heart) + hyper-pigmentation of skin + likely diabetes (elevated serum glucose) = hemochromatosis
Question # 6
A 55 year old male comes to the clinic with complaints of impotence for the past 8 months. He has no notable past medical history. A physical exam is remarkable for bronze-colored skin. Lab studies are conducted and his serum ferritin concentration is found to be 4000 ng/mL. The patient most likely has which condition?
Explanation # 6
Bronze-colored skin + very elevated serum ferritin concentration = hemochromatosis
Question # 7
A 50 year old male comes to the clinic because he has noticed that his skin has become increasingly more bronzed. He also complains of weakness and fatigue for the past few months. A physical exam shows bronze skin, small testes, and also hepatomegaly. Serum studies are notable for elevated liver enzymes, increased transferrin saturation, and increased levels of ferritin. What is the likely diagnosis in this patient?
Explanation # 7
Bronze-colored skin + elevated serum ferritin concentration + elevated LFTs, increased transferrin saturation, increased ferritin = hemochromatosis
TESTABLE FACTS ABOUT THIS CONDITION (BEYOND ITS IDENTIFICATION)
Many questions on standardized exams go beyond simply recognizing the underlying condition. Often there are specific testable facts regarding some aspect of the disease’s pathophysiology/management/clinical implications that are commonly asked. Some of these are listed below:
- General cause: increased intestinal absorption of iron
- Gene responsible: mutations on the HFE gene. Leads to decreased acting of Hepcidin which results in increased absorption of iron from intestinal cells
- Inheritance pattern: autosomal recessive
- Liver cirrhosis: high levels of iron in the serum will damage the liver
- Malignancy: patients are at a greater risk for hepatocellular carcinoma
Page Updated: 01.22.2017