Neutrophil Deficiencies

Resident: Swan
Article Title: Quantitative and Functional Neutrophil Deficiencies
Author: Diz et al.
Journal: Medicina Oral
Volume (Number): 7 (3). 2002
Major Topic: Etiology and Clinical Implications of Various Neutrophil Deficiency Disorders
Main Points in the Article Discussion:
1. Summary of Neutrophil function: Neutrophils, which are derived from pluripotent stem cells in the bone marrow, are involved in maintaining homeostasis. They phagocytize microorganisms, produce free radicals, secrete different cytokines, kill tumor cells, and neutralize viruses. They have multilobulated nuclei and cytoplasmic granules with particular staining characteristics. Deficiency in quantity and function either due to congenital or secondary factors, leads to recurrent infections, including oral ulcers, perio disease, and candidiasis.
2. Quantitative Alterations (Neutropenia): Neutropenia is defined as a count lower than 2000 X 10^6/liter (“normal” is 10^11). Neutropenias are classified as either congenital or acquired according to their etiology. Congenital disorders are characterized by either a decrease in production or by defects in the neutrophil maturity process.
Specific Deficiencies:
1. Severe Congenital Neutropenia (Kostmann’s Syndrome): recessive autosomal, severe neutropenia, recurrent bacterial infections. Clinical manifestations: cellulitis, rectal abscesses, peritonitis, stomatitis, and meningitis
2. Benign Congenital Neutropenia: Dominant autosomal. Clinically, mild mucocutaneous infections. Treatment not needed.
3. Reticular Dysgenesis: Autosomal recessive, hypoplastic thymus, absence of lymphocytes in lymphoid tissue. Usually die in the first months of life.
4. Cyclic Neutropenia: Dominant autosomal, very severe neutropenia lasting from 3 to 6 days every 21 days. Can be asymptomatic except in neutropenic stage when aphthous ulcers, gingivitis, stomatitis, and cellulitis are common.
5. Schwachman-Diamond Syndrome: Very uncommon (100-200 documented cases), autosomal recessive, multisystem manifestations. Exocrine pancreatic insufficiency (steatorrhea, malabsorption, low levels of fat-soluble vitamins, neutropenia, predisposition to leukemia (AML in 20% of patients) Oral symptoms: delayed dental development, gingival bleeding on brushing, persistent oral ulcerations, dental dysplasia including hypocalcification, hypomaturation. Dental caries and tooth structure loss seen in about 1/3 of patients. Most patients die before reaching 35 years of age.
3. Functional Alterations:
1. Leukocyte Adhesion Deficiency: Autosomal recessive, severe type (patients usually die at young age due to infection), moderate type (frequent mucocutaneous/digestive tract involvement). Maxillofacial involvement is common (cellulitis, sinusitis, otitis, gingivitis, periodontitis)
2. Chediak-Higashi Sydrome: autosomal recessive, neutrophils have altered chemotaxic capacity. Clinically, bacterial infections, peripheral neuropathia, mental deficiency, albinism, platelet dysfunction, severe perio disease.
3. Myeloperoxidase deficiency: most common congenital neutrophil disorder (1:2000 births). Generally asymptomatic.
4. Chronic Granulomatous Disease: 1:100,000,000. Clinically, severe acne, recurrent oral ulcers and granulomas
Key Points/Summary: Oral Manifestations and Dental Treatment
Most common oral complications related to neutropenia are ulcers, severe gingivitis, and periodontitis. These patients also tend to present with increased caries and pulpal pathology. Children with functional alterations (C.H.S., C.G.D.) suffer from ulcerations, sinusitis, cervical lymphadenopathy, and candidiasis. Kids who suffer from primary neutrophil dysfunctions have other dental findings such as enamel hypoplasia and delayed eruption. For these patients, conventional preventive measures are even more important to minimize the necessity of surgical procedures and increased odds of infection. Think about shorter recall intervals for these patients. Chlorhexidine rinse use would be a good idea too.
Assessment of Article: Good review with in-depth description of clinical relevance.