Familial Visceral Amyloidosis

Synonyms

10

Overview

A rare genetic disorder involving widespread amyloidosis (abnormal buildup of amyloid protein in tissues) which tends the affect the kidneys severely. It is associated with fibrinogen alpha chain, apolipoprotein A1, and lysozyme. It is also known as "Ostertag" type, after B. Ostertag, who characterized it in 1932 and 1950.

Symptoms

• Arterial hypertension
• Enlarged liver
• Enlarged spleen
• Blood in urine
• Pitting edema
• Nephritis

Causes

Amyloidosis is sometimes familial, especially in people of Portuguese ancestry. It may occur in conjunction with tuberculosis, chronic infection, rheumatoid arthritis, multiple myeloma, Hodgkin’s disease, paraplegia, and brucellosis. It may also accompany Alzheimer’s disease. In amyloidosis, accumulation and infiltration of amyloid produces pressure and causes atrophy of nearby cells. Reticuloendothelial cell dysfunction and abnormal immunoglobulin synthesis occur in some types of amyloidosis. In the United States, evidence of amyloidosis on autopsy is 0.5%, but true incidence is difficult to determine.

Treatment

Treatment is directed at eliminating the underlying cause and is mainly supportive. Transplantation may be useful for amyloidosis-induced renal failure, although the donor kidney may also develop amyloidosis. Patients with cardiac amyloidosis require conservative treatment to prevent dangerous arrhythmias. Malnutrition caused by malabsorption in end-stage GI involvement may require total parenteral nutrition .

Resources

• NIH