Amyloidosis: Primary & Secondary Types

Amyloidosis

• It involves the deposition of extracellular amyloid material
• Organ-limited amyloidosis is rarely reported in oral soft tissues and doesn't cause systemic alteration.
• Systemic forms include primary (myeloma-associated) and secondary (hemodialysis-associated, heredofamilial) types

Primary & Myeloma-Associated Amyloidosis

• It affects older adults, with an average age of 65 years.
• Common signs include mucocutaneous lesions and macroglossia
• Skin manifestations: smooth-surfaced, firm, waxy papules/plaques
• Macroglossia occurs in 12-40% of patients, characterized by diffuse or nodular enlargement of the tongue

Secondary Amyloidosis

• Result of chronic inflammatory processes, infectious or immune
• Chronic osteomyelitis, tuberculosis, and sarcoidosis are associated with secondary amyloidosis
• Liver, kidney, spleen, and adrenal involvement is typical
• Diagnosis can be confirmed by biopsy of rectal mucosa, gingiva, or labial salivary gland

Histologic Examination

• Shows extracellular deposition of amorphous eosinophilic material within submucosa
• Amyloid is identified using Congo red dye and crystal violet stain
• Improving infection or inflammation can lead to clinical improvement

Iron-Deficiency Anemia

• The most common cause of anemia
• Available iron is insufficient to produce enough RBC's
• 20% of childbearing age women iron-deficient due to chronic blood loss from excessive menstruation
• Adult men are often iron-deficient due to GI diseases like peptic ulcers, hiatal hernia, or malignancy
• Symptoms include fatigue, easy tiring, palpitations, lightheadedness, and lack of energy

Oral Manifestations of Iron-Deficiency Anemia

• Oral signs include angular cheilitis and generalized mucosal atrophy
• Diffuse/patchy atrophy of dorsum with tenderness or burning, similar to candidiasis

Treatment and Prognosis of Iron-Deficiency Anemia

• Dietary iron supplementation with oral ferrous sulfate is effective
• The condition responds promptly; red cell parameters usually return within 1-2 months

Plummer-Vinson Syndrome

• Related to Iron-deficiency anemia, glossitis, dysphagia
• Has a high frequency of oral and esophageal squamous cell carcinoma
• More common in 30–50-year-old Scandinavian/northern European women
• Associated with burning of the tongue and oral mucosa
• Presentation includes marked atrophy of lingual papillae, smooth red dorsal tongue, abnormal bands of tissue in the upper esophagus (esophageal webs), and spoon-shaped fingernails (koilonychia)

Pernicious Anemia

• Characterized by megaloblastic anemia due to poor absorption of vitamin B12 extrinsic factor
• Lack of intrinsic factor due to autoimmune destruction of stomach parietal cells
• Symptoms: fatigue, weakness, shortness of breath, headache, paresthesia (tingling, numbness of extremities)
• Oral signs: Burning mucosal sites, patchy areas of erythema and atrophy

Treatment and Prognosis of Pernicious Anemia

• Monthly intramuscular injections of cyanocobalamin

Addison Disease

• Caused by insufficient production of adrenal hormones due to destruction of the adrenal cortex or a nonfunctioning pituitary
• Symptoms span fatigue, irritability, depression, weakness, and hypotension
• Generalized hyperpigmentation of the skin ("bronzing") is more prominent on sun-exposed skin
• GI upset with anorexia, nausea, diarrhea, weight loss, and salt craving
• Oral presentations include diffuse or patchy, brown macular pigmentation

Treatment of Addison Disease

• Requires corticosteroid replacement therapy
• Dose adjustments for certain dental and oral surgical procedures may be needed

Crohn Disease

• Is an inflammatory, immunologically mediated condition
• Primarily affects the distal portion of the small bowel/proximal colon, but can happen mouth to anus
• It can have extraintestinal sites- skin, eyes, and joints
• In 30% of patients, oral lesions may precede GI lesions
• Presentation includes abdominal cramping, nausea, and diarrhea
• A key finding is non-necrotizing granulomatous inflammation

Oral Manifestations and Treatment for Crohn Disease

• Diffuse or nodular swelling of oral tissues and cobblestone appearance of mucosa
• Ulcers manifest linearly mainly in the buccal vestibule
• Aphthous ulcerations may also occur
• Treatments include Sulfasalazine/Prednisone, depending on the degree of involvement

Pyostomatitis Vegetans

• A specific oral manifestation of IBD, either ulcerative colitis or Crohn's disease
• Yellowish, linear, serpentine pustules on erythematous mucosa
• Primarily affects buccal and labial mucosa
• Features "Snail-track" ulcerations
• Oral lesions may appear concomitantly with bowel symptoms

Treatment and Prognosis of Pyostomatitis Vegetans

• Intestinal signs and symptoms of inflammatory bowel disease are most concern
• Topical steroids are used for oral lesions

Hypophosphatasia

• A rare hereditary disorder
• Characterized by decreased levels of alkaline phosphatase
• Four types: Perinatal, infantile, childhood, adult
• Childhood manifestations: dental issues
• Can result in absence/reduced cementum formation, premature loss of teeth, and absence of inflammation

Overview of amyloidosis, focusing on primary and secondary types. Primary amyloidosis is myeloma-associated and often presents with mucocutaneous lesions and macroglossia. Secondary amyloidosis results from chronic inflammatory conditions.