Sjogren's Syndrome and Amyloidosis - Understanding the Clinicopathological Considerations

Introduction:

Sjogren’s syndrome and amyloidosis are two separate medical entities. However, some patients can coexist and present a completely different clinicopathological picture. Sjogren’s syndrome is an autoimmune disorder that majorly affects the lacrimal and salivary glands. Amyloidosis, on the other hand, refers to a group of diseases wherein the abnormal protein amyloid is deposited in the tissues and organs, thereby impairing their functions. Amyloidosis can be presented as a secondary systemic manifestation of Sjogren’s syndrome. However, this is a rare presentation. This article will help to highlight the correlation between Sjogren’s syndrome and amyloidosis.

What Is Sjogren’s Syndrome?

Sjogren’s syndrome (Sicca syndrome) is an autoimmune disorder characterized by dry eyes and dry mouth. In this disorder, the salivary glands and the tear (lacrimal) glands are affected, causing reduced tears and salivation. It is mostly reported in women and reported in middle-aged people.

Symptoms - The two most common symptoms include -

• Xerophthalmia (Dry Eyes): The eyes may feel itchy, burning, or gritty. The condition can lead to keratoconjunctivitis sicca (dryness of the conjunctiva and cornea).

• Xerostomia (Dry Mouth) - There is a burning sensation in the mouth, causing difficulty swallowing and speaking. The salivary glands may also be swollen.

Other Symptoms -

• Swollen and painful joints.

• Dry skin.

• Vaginal itching and dryness.

• Extreme tiredness.

• Chronic dry cough.

• Skin rash.

Etiology -

It is an autoimmune disease (the immune cells mistakenly attack the host’s cells and tissues). It is believed to occur due to genetic mutation in some people, but it is usually triggered by a bacterial or viral infection. People usually suffer from rheumatoid arthritis while they suffer from Sjogren’s syndrome.

Diagnosis -

• Blood tests for specific antibodies anti-SSA/Ro and anti-SSB/La.

• Biopsy of the salivary gland.

• Sialography (radiographic examination of the salivary glands).

• Salivary scintigraphy (nuclear medical study for functional evaluation of salivary glands).

• Schirmer’s test for the production of tears.

Management -

• Artificial tears substitute.

• Artificial saliva substitute.

• Regular dental checkups to maintain oral hygiene.

• Immunosuppressive drugs.

Complications -

• Increased incidence of dental cavities due to lack of saliva.

• The oral cavity becomes more prone to developing increased yeast infections (oral thrush).

• Dryness of eyes can lead to blurring of vision, sensitivity to light, and even corneal damage.

• Inflammation of the lungs can cause bronchitis, pneumonia, and other lung infections.

• There may be problems with the functioning of the kidneys.

• Liver inflammation can lead to hepatitis and even liver cirrhosis.

• Peripheral neuropathy can occur, causing numbness and tingling sensations in the hands and feet.

• In rare cases, lymphoma (cancer of the lymph nodes) may occur.

What Is Amyloidosis?

Amyloidosis is a rare medical disorder characterized by the buildup of amyloid proteins (extracellular deposition of amyloid fibril proteins) in the kidneys, heart, liver, lungs, and other tissues, thereby impairing their physiological functions. There are several types of amyloidosis, the most common of which are primary and secondary.

Symptoms -

• Extreme fatigue and weakness.

• Breathlessness.

• Swollen legs and ankles.

• Numbness and tingling in the upper and lower extremities.

• Diarrhea, sometimes with blood.

• An enlarged tongue or spleen.

• Easy bruising.

• Purple patches around the eyes.

Causes -

• Hereditary.

• Inflammatory diseases.

• Patients on long-term dialysis.

AL Amyloidosis (Primary Amyloidosis) - It is the most common type and most affects the heart, liver, spleen, kidneys, and nerves.

AM Amyloidosis (Secondary Amyloidosis) - This type usually gets triggered by an inflammatory disease like rheumatoid arthritis. It mainly affects the kidney, liver, and heart.

Diagnosis -

• Serum analysis of the serum amyloid A protein (SAA).

• Biopsy of the affected tissues.

• Congo red staining gives people-green birefringence under polarization in histopathology.

• Serum electrophoresis.

• Urine protein analysis.

• Genetic testing.

Management -

Depending on the type of amyloidosis, stem cell transplantation in the case of primary amyloidosis and treatment of the underlying chronic inflammatory disease in terms of secondary amyloidosis. Specific care needs to be given depending on the organ complications.

Complications -

• Heart - The ability of the heart to be pumped with blood is reduced due to the deposition of abnormal protein amyloid. This can lead to arrhythmias, weakening of the cardiac muscles (cardiomyopathy), and breathlessness.

• Kidneys - Amyloidosis largely impacts the ability of the kidneys to eliminate (filter) the waste and toxic products from the body. This can lead to proteinuria and kidney failure.

• Nervous System - Damage to the nerves can eventually cause pain, numbness, and tingling sensations in the feet and fingers leading to peripheral neuropathy. Also, if the nerves supplying the digestive system are damaged, they can affect the bowel functions.

• Liver - It can lead to hepatomegaly.

What Is the Link Between Sjogren’s Syndrome and Amyloidosis?

The development of amyloidosis due to Sjogren’s syndrome is a rare finding. However, it has been rarely found that Sjogren’s syndrome and amyloidosis may coexist together. Amyloidosis can occur secondary to systemic autoimmune conditions or chronic inflammatory disorders. Sjogren’s syndrome can sometimes lead to secondary systemic inflammatory complications in many organs of the body, which can eventually lead to secondary amyloidosis.

If both conditions coexist, the abnormal amyloid deposits may further deteriorate the organ dysfunction of the body, causing worsening of the clinical manifestations of Sjogren’s syndrome.

Clinical Considerations -

If a patient shows worsening of the clinical symptoms, the healthcare professional should also look for the possibility of amyloidosis, though it is a rare entity. The patient requires a definitive diagnosis.

Symptoms - Nephrotic syndrome, renal failure, arrhythmias, fatigue, weight loss, weakness, congestive heart failure, diarrhea, and hepatosplenomegaly.

Diagnosis - The serum amyloid levels should be checked. If elevated, the patient should go for a confirmatory diagnosis by doing specific tests for amyloid fibril deposits (Congo red staining) after conducting a biopsy. Also, the presence of autoantibodies is a diagnostic criterion for Sjogren’s syndrome.

Treatment - When both the conditions coexist, efforts should be made to alleviate the autoimmune activity of Sjogren’s syndrome. Specific care is given depending on the type of organ involved. Regular follow-ups and monitoring of the systemic organs is required with supportive care for a better prognosis.

Conclusion -

The presence of both medical conditions in the body is an uncommon finding, but there are rare chances for their coexistence. It is important to understand the interplay between Sjogren’s syndrome and amyloidosis to improve the clinical outcome of such patients and provide them with the best supportive management. Also, it is crucial for healthcare professionals to understand the etiology and the clinicopathologic considerations of both lesions for better awareness and early diagnosis.