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Systemic Amyloidosis

ICD-9: 277.3 ○ ICD-10: E85.3

  • Amyloidosis is an extracellular deposition in various tissues of amyloid fibril proteins and of a protein called amyloid P component (AP); the identical component of AP is present in the serum and is called SAP. These amyloid deposits can affect normal body function.

  • Systemic AL amyloidosis, also known as primary amyloidosis, occurs in patients with B cell or plasma cell dyscrasias and multiple myeloma in whom fragments of monoclonal immunoglobulin light chains form amyloid fibrils.

  • Clinical features of AL include a combination of macroglossia and cardiac, renal, hepatic, and gastrointestinal (GI) involvement, as well as carpal tunnel syndrome and skin lesions. These occur in 30% of patients, and since they occur early in the disease, they are an important clue to the diagnosis.

  • Systemic AA amyloidosis (reactive) occurs in patients after chronic inflammatory disease, in whom the fibril protein is derived from the circulating acute-phase lipoprotein known as serum amyloid A.

  • There are few or no characteristic skin lesions in AA amyloidosis, which usually affects the liver, spleen, kidneys, and adrenals.

  • In addition, skin manifestations may also be associated with a number of (rare) heredofamilial syndromes.

  • Localized cutaneous amyloidosis is not uncommon, presents with typical cutaneous manifestations, and has no systemic involvement.

Systemic AL Amyloidosis

ICD-9: 277.3 ○ ICD-10: E85 Image not available.

  • Rare, occurs in many, but not all, patients with multiple myeloma and B cell dyscrasia.

  • Skin Lesions: Smooth, waxy papules (Fig. 14-1), also nodules on the face, especially around the eyes (Fig. 14-2) and elsewhere. Purpura following trauma, “pinch” purpura in waxy papules (Fig. 14-2) sometimes also involving large surface areas without nodular involvement. Predilection sites are around the eyes, central face, extremities, body folds, axillae, umbilicus, anogenital area. Nail changes: similar to lichen planus (see Section 34). Macroglossia: diffusely enlarged and firm, “woody” (Fig. 14-3).

  • Systemic Manifestations: Fatigue, weakness, anorexia, weight loss, malaise, dyspnea; symptoms related to hepatic, renal, and GI involvement; paresthesia related to carpal tunnel syndrome, neuropathy.

  • General Examination: Kidney—nephrosis; nervous system—peripheral neuropathy, carpal tunnel syndrome; cardiovascular—partial heart block, congestive heart failure; hepatic—hepatomegaly; GI—diarrhea, sometimes hemorrhagic, malabsorption; lymphadenopathy.

  • Laboratory: May reveal thrombocytosis >500,000/μL. Proteinuria and increased serum creatinine; hypercalcemia. Increased IgG. Monoclonal protein in two-thirds of patients with primary or myeloma-associated amyloidosis. Bone marrow: myeloma.

  • Dermatopathology: accumulation of faintly eosinophilic masses of amyloid in the papillary body near the epidermis, in the papillary and reticular dermis, in sweat glands, around and within blood vessel walls. Immunohistochemistry to assess the proportion of kappa and lambda light chains.

Figure 14-1.

Systemic AL amyloidosis Waxy papules on the trunk of a 58-year-old male patient with myeloma.

Figure 14-2.

Systemic AL amyloidosis: “pinch purpura” The topmost papule is yellowish and nonhemorrhagic; the lower portion ...

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