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Endocrine Exam 3 > 52 - Hemachromatosis Case > Flashcards

52 - Hemachromatosis Case Flashcards

1
Q

What is hemochromatosis?

A

An inherited metabolic disorder that causes a systemic iron overload in the blood due to decreased hepcidin production

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2
Q

What mutation causes hemochromatosis?

A

Usually homozygous C282Y mutation in the HFE gene on chromosome 6

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3
Q

What does hepcidin normally do?

A
  • Hepcidin controls the plasma iron concentration by inhibiting iron export by ferroportin from duodenal enterocytes and reticuloendothelial macrophages
  • As a consequence, a decrease in hepcidin production (like in hemochromatosis), leads to an increase in plasma iron concentration
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4
Q

What tests can you do if you are suspecting hemochromatosis?

A
  • Serum iron
  • Total iron binding capacity (TIBC)
  • Transferrin saturation (Serum iron/TIBC x 100)
  • Serum ferritin
  • Genetic testing
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5
Q

What is the value of serum ferritin?

A
  • Very sensitive but has low specificity

Can be elevated in inflammatory process, diabetes, alcohol consumption and liver damage

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6
Q

What are you looking for in genetic testing?

A

C282Y mutation

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7
Q

What does hemochromatosis result in?

A

Increased serum iron results in damage of…

  • Pancreas
  • Endocrine glands
  • Liver
  • Heart
  • Skin
  • Joints
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8
Q

What does the result of iron damage on the liver?

A

Cirrhosis

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9
Q

What is the result of iron damage on the pancreas and endocrine glands?

A

Diabetes

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10
Q

What is the result of iron damage on the heart?

A

Heart failure

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11
Q

What is the result of iron damage on the joints?

A

Arthropathy

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12
Q

Describe the arthropathy seen in hemachromatosis patients

A
  • 2/3 of hemachromatosis patients will be affected by arthropathy
  • Arthopathy will be the presenting symptom in 1/3 of patients
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13
Q

What three conditions can arthropathy present similarly to?

A
  • Osteoarthritis
  • Rheumatoid arthritis
  • Calcium pyrophosphate deposition disease
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14
Q

When do we typically find hemochromatosis?

A
  • Younger patients
  • Average age is 45
  • We see it in men younger than 30 and in women before menopause
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15
Q

What are the symptoms related to arthropathy in hemochromatosis?

A
  • Pain linked to motion and limitation of range of motion
  • Arthritis characteristically at 2nd and 3rd metacarpophalangeal joint
  • Other common joints affected include wrists, proximal interphalangeal joints, hips, knees and ankles
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16
Q

How do you distinguish hemochromatosis from osteoarthritis?

A

Osteoarthritis is typically found in older patients unless they have had injury to the joint, so we will see it much earlier in hemochromatosis patients

17
Q

How do you distinguish hemochromatosis from RA?

A

RA – you will get pain in all of the joints, not just two of them, so the 2nd and 3rd metacarpophalangeal joint pain is characteristic of hemochromatosis

18
Q

What are typical radiographic findings in hemochromatosis?

A
  • Subchondral sclerosis common
  • Hook-like osteophytes found on joint periphery
  • Subchondral cysts and geodes
  • Chondrocalcinosis
  • Osteoporosis
19
Q

What is subchondral sclerosis? What do you need to be aware of when you see subchondral sclerosis?

A

Subchondral sclerosis is defined as increased bone density or thickening in the subchondral layer. This often occurs with progressive osteoarthritis and shows up on x-rays as abnormally white (dense) bone along the joint line.

It can be rapidly progressive

20
Q

What is chondrocalcinosis? What is important about chondrocalcinosis?

A

A condition characterized by accumulation of crystals of calcium pyrophosphate dihydrate in the connective tissues

It is NOT seen in osteoarthritis, so it is considered characteristic of hemachromatosis ***

21
Q

Describe the hook shpaed ostophytes seen in hemachromatosis

A
  • Seen on the metacarpal heads

- Normally you would see a nice rounded edge, but here we see a little hook shaped appendage

22
Q

What does chondrocalcinosis look like on an x-ray?

A

Increased white in the affected joint

23
Q

Describe the pathological findings of hemachromatosis

A
  • Thinning or erosion of articular cartilage (will look similar to osteoarthritis and rheumatoid arthritis
  • Iron depositions often found in cartilage and the synovial and synovial lining cells (joint capsule)
  • Macrophage and neutrophil infiltration (presence correlated with hemosiderin deposits in tissue)
24
Q

What is the treatment for hemachromatosis?

A
  • Phlebotomy helps with organ damage but does NOT help with arthropathy ***
  • This is because the ferratin is already trapped in the synovium (joint capsule)
  • NSAIDs
  • Steroid injections
  • Joint replacement
25
Q

Describe the patient in the case study

A
  • 63 year old female presents to clinic with right ankle pain
  • Onset – several years in duration
  • Progression - progressively getting worse
  • Quality – deep aching pain
  • Region – right ankle joint and medial right ankle
  • Severity – 9/10 with standing, 2/10 at rest
  • Treatment – none
  • Associated symptoms – starting to get swelling in medial right ankle

Other questions

  • Previous injury? No
  • Prior surgery? No
  • Osteoporosis? No history of this
  • Other joint pain? Yes, between 2nd and 3rd metatarsals in her hand and some knee pain as well
26
Q

Describe the musculoskeletal pain this patient is experiencing

A

M/S

  • Pain ankle dorsiflexion and plantarflexion
  • Pain with palpation of ankle joint and area of soft tissue swelling and firmness
  • No pain with muscle strength testing or with palpation of the tendons
27
Q

Describe what we see on x-ray of this patient

A
  • Bone quality is not great – starting to get some osteoporosis (should be more white)
  • You should see some black in the ankle joint, this looks like all white in the joint
  • Can see “little holes” in the bone where the bone has been eroded away
28
Q

What do we diagnose this patient with?

A

Arthritic changes right ankle likely due to hemochromatosis

29
Q

What is the plan?

A
  • Steroid injection right ankle
  • Hopefully to decrease pain
  • Follow up 2 months
30
Q

Describe the patient presentation 2 months later

A
  • Pain in ankle joint greatly reduced
  • Still continues to have pain in the medial aspect of the ankle behind malleolus
  • Pain worse with weight bearing and relieved with rest
  • No radiation noted
  • Notable swelling and palpable firm mass
  • Area does not trans-illuminate with light
  • Pain noted with palpation of the mass and with ankle range of motion
31
Q

What would you see in an MRI?

A
  • T1 image, looking at the lateral view
  • T1=white bone
  • Fluid is black on T1
  • See cystic changes from the hemochromatosis
32
Q

What do you see on the cross section?

A

T1
- Dark spot on the right center behind the medial malleolus

T2

  • Bone is dark, fluid is bright white
  • Here you can see a little fluid filled mass again behind the medial malleolus
33
Q

How can we interpret the MRI findings?

A
  • Moderate tibiotalar degenerative changes especially the medial and posterior aspect.
  • There is small joint effusion with synovitis related to the described arthropathy.
  • Patient’s palpable lump likely corresponds to the small focal pouching of the joint fluid and marginal spur formation which abuts the adjacent posterior tibial neurovascular bundle.
34
Q

What are the treatment options for this ongoing pain?

A
  • Aspirate mass
  • Steroid injection in the tarsal canal
  • Surgically remove joint effusion and tie it off
35
Q

Describe the option of aspirating the mass

A
  • Aspirate mass
  • It would likely fill back up because it is coming off the joint
  • Mass is somewhat small and would be difficult to infiltrate due to location (and painful)
36
Q

Describe the option of doing a steroid injection in the tarsal canal

A

Steroid injection in tarsal canal

- Unsure if it would work because pain is likely due to pressure on the nerve

37
Q

Describe the option of surgically removing the joint effusion and tying it off

A

Surgically remove joint effusion and tie it off

- May come back in the future

38
Q

What was the outcome for this patient?

A
  • Patient underwent surgery to remove mass.
  • Pain decreased
  • 3 months after surgery some pain is still present but less than what it was prior to surgery
  • Patient placed in ankle brace

Endocrine Exam 3 (13 decks)

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