What Is Heerfordt’s Syndrome?
Heerfordt's syndrome or Heerfordt-Waldenström syndrome, also medically known as uveoparotid fever, is a variant of sarcoidosis, comprising mainly clinical symptoms such as parotid gland enlargement, generalized fever, facial nerve palsy, and anterior uveitis or ocular involvement. Sarcoidosis has many forms, and uveoparotid fever is just one of the rarer entities described firstly by Danish ophthalmologist Christian Friedrick Heerfordt in 1909. Uveoparotid fever is deemed an uncommon but rather acute presentation of the disease sarcoidosis that may usually have multiple systemic manifestations or features.
What Are the Pathogenesis and Causes of Heerfordt’s Syndrome?
Sarcoidosis is basically a systemic disease characterized by an abnormal accumulation or aggregation of macrophage cells, also known as granulomas, formed by our body's immune system in response to a chronic inflammatory reaction. As reported in the medical literature, Propionibacterium and Mycobacterium species are known causative organisms of this disease.
Although sarcoidosis is a common systemic disease affecting the lungs, lymphatic system, or the lymph nodes of specific regions and the skin, Heerfordt's syndrome is only a rarity or a distinct classification of sarcoidosis in which the patients may have either complete or incomplete clinical features. A combination of environmental triggers with genetics in individuals who would be predisposed is suggested pathogenesis to this rare condition.
What Is the Prevalence Rate of Heerfordt’s Syndrome?
The prevalence rate of this syndrome in people suffering from sarcoidosis is around 4 to 5 %. The increased prevalence rate is seen in individuals aged 20 to 40 and the female population. Genetic components can be traced in 15 % of patients suffering from this syndrome, and predisposition of the same by genes in families affected by Heerfordt's syndrome is a possibility as per research. However, the nature of gene transmission is not precisely determined or remains elusive yet.
What Are the Clinical Features of Heerfordt’s Syndrome?
Due to the activation of macrophages and immune helper T cells triggering immune response for the formation of granulomas in sarcoidosis, all these four components, the cranial nerves, the uvea, the parotid gland, and the meninges, may be simultaneously involved.
The following are the clinical manifestations of Heerfordt’s syndrome:
-
Ischemic nerve injuries and myelin sheath loss of nerve cells accompanied by axonal degeneration or damage are commonly seen. This can be attributed to the widely distributed granulomatous lesions, specifically in these regions. However, they are also observed in the perineurium, epineurium, and endoneurium (These three are the layers surrounding the myelin sheath of the nerve cells or neurons).
-
Parotid gland swelling can lead to dry mouth or xerostomia, and tongue deviation or atrophy is another observed oral symptom seen in craniopathies.
-
The parotid gland region of the face shows a unilateral or bilateral painless swelling.
-
Anterior uveitis is a classic symptom wherein the colored part of our eyes or the iris and the ciliary body space are affected (the middle portion of the eye).
-
Accompanying this in the posterior region of the eyes may be retinitis and pars planitis (inflammation of the retina and the pars plans area of the eyes) leading to blurred vision, dark floating spots in the vision, or even vision loss that may be eventually progressive.
How Is Heerfordt’s Syndrome Diagnosed?
-
The dentist or maxillofacial surgeon may recommend gallium scanning of the parotid gland or alternatively perform a biopsy of the gland to detect non-caseating granulomas.
-
Another diagnostic test of importance is the Kveim-Siltzbach test (for suspected sarcoidosis cases), which is almost confirmatory of the diagnosis of distinctive sarcoidosis, i.e., Heerfordt's syndrome. In this test, part of the patient's spleen tissue is injected intradermally into the patient's skin. The result is positive if non-caseating granulomas are found after 4 to 6 weeks. However, the positivity rate decreases in a chronic state (wherein the duration of the disease is increased).
-
The serum angiotensin-converting enzyme (ACE) levels are also increased.
-
Hypercalcemia or increased calcitriol levels are also indicative (due to activated macrophages resulting in increased 1,25-dihydroxy vitamin D3). This is, however, observed only in 40 to 50 % of cases and is an adjuvant to the diagnosis of Heerfordt's syndrome.
-
The neurologist may also recommend MRI or CT scanning and additional investigation like lumbar puncture if meningitis or other cranial neuropathies are suspected.
-
The classic diagnostic criteria is the presence of symptoms related to the non-caseating granulomas characteristic of sarcoidosis in specific areas or regions of the face and orbital region.
-
Physicians usually consider the onset of uveoparotid fever to be mainly sarcoidosis within the parotid gland, accompanied by both the nasolacrimal and the orbital region in exceptional cases.
-
Fever is another major determinant for diagnosing Uveoparotid fever.
How Is Heerfordt’s Syndrome Managed?
Heerfordt's disease is self-limiting and should be cured within a span of 12 to 36 months. It mainly impairs the quality of the patient's life due to the ocular, oral discomfiture, and facial paralysis that may become permanent if left untreated.
Oral hygiene plays a pivotal role for these patients, as the dental surgeon recommends regular prevention treatment for restorative lesions and oral infections.
Oral corticosteroids or prednisolone are commonly prescribed for upto one year with dosage varying from 20 to 80 mg per day (depending on the extent and severity of the clinical features).
The physician's earliest identification based on clinical symptoms of the syndrome with prompt treatment and multidisciplinary care is the key to long-term recovery from Uveoparotid fever or Heerfordt's syndrome.
Conclusion:
To conclude, Heerfordt's syndrome through self-limiting is a rare sarcoidosis condition that presents a challenging, clinically difficult, and unpredictable course impairing the patient's lifestyle. A multidisciplinary approach from the physician, neurologist, and dentist can alleviate the long-term symptoms of this condition.
