Sarcoidosis case

You said:

Help me with this diagnosis

ChatGPT said:

Of course! Please provide the main complaint or initial symptoms of the simulated patient, and we can start from there.

You said:

A 37-year-old black female presents with a one-week history of floaters in both eyes. Corrected visual acuity is 20/30 (6/9.5) right eye and 20/20 (6/6) left eye. Anterior segment examination is normal but the posterior segments are notable for 2+ vitreous cells on the right and 1+ vitreous cells on the left with inferior “snowballs” in both eyes. Additionally, the right eye has a 2-disc-diameter, elevated, white retinal lesion adjacent to the nasal aspect of the optic nerve as seen in this photo. Posterior pole of the left eye is unremarkable.

ChatGPT said:

Thank you for providing those details. Based on the initial presentation, it sounds like this patient has symptoms consistent with a bilateral posterior segment inflammatory condition, with vitreous cells and retinal lesions observed primarily in the right eye. The appearance of "snowballs" in the inferior vitreous and a white retinal lesion suggests a more specific underlying etiology.

To move forward, let’s start with the differential diagnosis. Given the vitreous cells, the presence of snowballs, and the retinal lesion, some possible differentials to consider might include:

1. Intermediate uveitis (pars planitis)

2. Toxoplasmosis retinitis

3. Sarcoidosis-related uveitis

4. Tuberculous chorioretinitis

5. Primary intraocular lymphoma

6. Syphilitic chorioretinitis

7. Behçet's disease

What additional tests or history would you like to explore to narrow down these differentials?

You said:

You tell me

ChatGPT said:

To better understand the underlying cause of this patient’s symptoms, we should proceed with a few steps:

1. Detailed Medical and Systemic History:

• Systemic Symptoms: Ask about symptoms like respiratory issues (e.g., cough, shortness of breath), joint pain, skin rashes, or neurological symptoms, which could suggest a systemic inflammatory or infectious condition (e.g., sarcoidosis, tuberculosis).

• Infectious Exposures: Inquire about recent travel, history of tuberculosis exposure, or known infections that could suggest toxoplasmosis, tuberculosis, or syphilis.

• Autoimmune and Family History: Questions about any history of autoimmune diseases, including those in family members, and any history of Behçet's disease, lupus, or other similar conditions.

• Demographics: Consider the patient's ethnicity and age, as certain conditions, like sarcoidosis, may present more commonly in specific populations.

2. Laboratory Tests:

To investigate possible infectious or autoimmune causes, the following tests would be informative:

• Complete Blood Count (CBC) with differential to check for any signs of systemic infection or inflammation.

• QuantiFERON-TB Gold Test or Tuberculin Skin Test (PPD) for tuberculosis screening.

• ACE (Angiotensin-Converting Enzyme) Levels and Serum Calcium: Elevated ACE levels and calcium can suggest sarcoidosis.

• RPR or FTA-ABS (Fluorescent Treponemal Antibody Absorption) Test: These syphilis tests would be useful if there's a suspicion of syphilitic uveitis.

• Toxoplasma IgG and IgM Antibodies: Given the retinal lesion, testing for toxoplasmosis antibodies could be helpful.

3. Ophthalmic Imaging and Tests:

• OCT (Optical Coherence Tomography): This would help evaluate the vitreous, retina, and macula for any edema or structural abnormalities.

• Fluorescein Angiography (FA): Useful for identifying areas of inflammation, ischemia, or vasculitis.

• Fundus Photography: To document the retinal lesion and compare it over time.

• B-Scan Ultrasonography: If needed, this could assess the posterior segment in more detail, especially if there’s a concern about intraocular masses or vitritis.

4. Possible Chest Imaging:

• Chest X-ray or CT Scan: To evaluate for any signs of pulmonary involvement or lymphadenopathy, especially if there’s a suspicion of sarcoidosis or tuberculosis.

Each of these steps will help us refine the diagnosis. Which specific tests would you like to proceed with first?

You said:

I am giving you more findings of my patient and a photograph

ChatGPT said:

Great! Please share the additional findings and the description of the photograph, and we’ll continue from there.

You said:

Our patient underwent a detailed review of systems which was negative for ocular pain, redness, loss of vision, swelling, itchiness, abnormal secretions, or flashes of lights. Her systemic review was negative for headache, fever, night sweats, cough, shortness of breath, recent illness/flu like symptoms or travel. She also had no neurological deficits, recent trauma, or contact with animals. However, she did report red bumps on her shins as seen in this photograph:

ChatGPT said:

Thank you for these additional details and the photograph. The red bumps on her shins are suggestive of erythema nodosum, which commonly presents as tender, red nodules on the anterior shins. This finding, along with her ocular symptoms of bilateral vitritis, retinal lesions, and lack of other systemic symptoms, is important for narrowing down the differential diagnosis.

Erythema Nodosum and Eye Involvement

Erythema nodosum is often associated with systemic inflammatory conditions. Given the combination of her ocular findings and erythema nodosum, some likely differentials now include:

1. Sarcoidosis:

   • This is a leading consideration given the combination of ocular inflammation (bilateral vitreous cells, retinal lesions) and erythema nodosum.

   • Sarcoidosis commonly affects the lungs, but it can also involve the eyes, skin, and other organs.

   • Though she has no respiratory symptoms, sarcoidosis can still present with ocular findings as the primary manifestation, and erythema nodosum is a known associated skin condition.

2. Tuberculosis:

   • Tuberculosis can cause ocular inflammation and erythema nodosum, but given her lack of respiratory symptoms and no history of exposure, it is less likely. However, screening with a TB skin test or QuantiFERON-TB test could still be useful.

3. Other Infectious Causes:

   • Certain infections, like streptococcal infections, can cause erythema nodosum and might also contribute to an inflammatory response in the eye. However, this is less commonly associated with the specific ocular findings you’ve described.

4. Systemic Inflammatory Diseases:

   • Other systemic inflammatory diseases, such as Behçet's disease or inflammatory bowel disease (IBD), can present with erythema nodosum and uveitis. However, Behçet’s disease is typically associated with more anterior uveitis and painful oral/genital ulcers, which she doesn’t report.

Next Steps for Diagnosis

Based on this updated information, I recommend the following next steps:

1. ACE Levels and Serum Calcium: These tests are useful in identifying sarcoidosis, as ACE levels are often elevated. Serum calcium may also be elevated in sarcoidosis due to increased vitamin D activation.

2. Chest X-ray or CT Scan: Even without respiratory symptoms, sarcoidosis can manifest with lung abnormalities, such as bilateral hilar lymphadenopathy. Imaging can help confirm the presence of sarcoidosis.

3. Tuberculosis Screening (QuantiFERON-TB Gold or PPD Test): While less likely, ruling out tuberculosis is essential, given the possible ocular involvement.

4. Skin Biopsy of Erythema Nodosum Lesions: If needed, a biopsy of one of the erythema nodosum lesions may provide clues to the underlying etiology.

5. Ophthalmic Imaging: To further evaluate the retinal lesion and extent of inflammation, OCT and fluorescein angiography (FA) remain valuable to detect macular involvement, retinal vasculitis, or other posterior segment changes.

Would you like to proceed with these tests, or do you have specific tests in mind for further evaluation?

You said:

We did X rays and got this: Chest x-ray and CT scans were subsequently performed, revealing hilar adenopathy (arrows)

ChatGPT said:

The presence of bilateral hilar adenopathy on the chest X-ray and CT scan, along with erythema nodosum and ocular findings, strongly suggests sarcoidosis as the likely diagnosis.

Rationale for Sarcoidosis Diagnosis

Sarcoidosis is a systemic granulomatous disease that commonly involves the lungs, eyes, and skin:

• Ocular Findings: It frequently presents with ocular inflammation, including intermediate or posterior uveitis, vitritis, and retinal lesions.

• Erythema Nodosum: This condition is a known skin manifestation associated with sarcoidosis, especially in combination with bilateral hilar lymphadenopathy.

• Hilar Adenopathy: Bilateral hilar lymphadenopathy is a hallmark of sarcoidosis and is seen in the majority of cases with pulmonary involvement, even if the patient does not have respiratory symptoms.

Next Steps to Confirm Diagnosis

1. ACE Levels and Serum Calcium: As sarcoidosis often elevates ACE levels due to the granulomatous activity, testing for this will support the diagnosis. Elevated calcium may also be present.

2. Biopsy (If Needed): A biopsy of the lymph nodes or a less invasive biopsy, such as a conjunctival biopsy or biopsy of an erythema nodosum lesion, can confirm the presence of non-caseating granulomas, the characteristic finding in sarcoidosis.

3. Ocular Imaging: Performing OCT and fluorescein angiography (FA) can provide more details about any retinal or choroidal involvement, guiding further management of the ocular symptoms.

Would you like to proceed with confirming the diagnosis with additional lab tests and imaging, or discuss management options for this suspected case of sarcoidosis?

You said:

We did a biopsy and got Non-caseating granulomas

ChatGPT said:

The presence of non-caseating granulomas on biopsy provides a definitive histological diagnosis of sarcoidosis. This, combined with her ocular findings, erythema nodosum, and bilateral hilar lymphadenopathy, aligns well with a systemic sarcoidosis diagnosis.

Next Steps in Management

For this patient, management will focus on both systemic and ocular aspects of sarcoidosis:

1. Systemic Therapy:

   • Corticosteroids: The mainstay of treatment for sarcoidosis, especially with multi-organ involvement. Prednisone or another oral corticosteroid can help reduce systemic inflammation, including in the lungs, skin, and eyes.

   • Steroid-Sparing Agents: If prolonged therapy is required or if the patient experiences side effects, steroid-sparing agents, such as methotrexate, azathioprine, or mycophenolate mofetil, may be considered.

2. Ocular Management:

   • Topical or Periocular Steroids: For ocular inflammation, local treatment may be beneficial, such as corticosteroid eye drops or periocular steroid injections.

   • Systemic Steroids: Given her bilateral vitreous cells and retinal lesion, systemic steroids may also help control ocular inflammation.

   • Ophthalmic Follow-Up: Regular follow-up with an ophthalmologist is essential to monitor for potential complications such as cataracts, glaucoma (from steroid use), and ongoing retinal involvement. Additional imaging with OCT or fluorescein angiography may be required to monitor her response to treatment.

3. Monitoring and Supportive Care:

   • Calcium and Vitamin D Monitoring: Due to the risk of hypercalcemia, monitor serum calcium and vitamin D levels.

   • Pulmonary Monitoring: Periodic pulmonary function tests or chest imaging may be necessary to monitor any progression or resolution of pulmonary involvement.

   • Patient Education: Educate the patient about potential side effects of treatment and the importance of adherence to follow-up appointments to monitor the disease course and treatment side effects.

Would you like to discuss specific treatment options or additional details on monitoring and long-term management for this patient?

You said:

Thank you, done for now. Will get back if needed

ChatGPT said:

You're very welcome! I'm glad I could assist. Don’t hesitate to reach out if you have any more questions or need further assistance with this case. Best of luck with your patient's management, and I’m here whenever you need!

Take care, and see you next time.