Hereditary Disorders with associated arthropathies

Question 1

1. A disorder in which the body can build up too much iron in the skin, heart, liver, pancreas, pituitary gland, and joints
2. Incidence
3. Affects what?
   4.. Most common clinical manifestations
4. Classic?
5. Dx

Answer 1

1. Hemochromatosis
2. 1 is to 200 persons affected
3. MCP, radiocarpal jt, ankle, hips, elbows, knees and shoulders
4. Fatigue and arthralgias
5. Bronze diabetes, CHF, Cirrhosis -> end stage disease
6. Serum iron, total iron binding capacity, serum ferritin

Question 2

1. A rare, autosomal recessive disorder caused by abnormal copper accumulation in the body particularly involving the brain, liver, and cornea
2. Other name of this condition
3. Cause
4. Result
5. Neuro manifestations
6. Signs and Sx

Answer 2

1. Wilson’s Disease
2. Hepatolenticular Degeneration
3. Mutation copper in transporting ATPase
4. accumulation of free copper in organs including the liver, brain, and joints
5. Dysarthria, dystonia, tremor
6. Joint pain stiffness (large jts) & musculoskeletal pain, Kayser Fleischer rings

Question 3

1. A rareautosomal recessivedisorder ofhomogentisic acidmetabolism caused by a deficiency ofhomogentisic acid oxidase
2. Incidence
3. 1st symptomi in childhood
4. If diagnosed late, what is the cc?
5. What condition resembles this condition?

Answer 3

1. Alkaptonuria
2. 1 in 250,000
3. Darkened or black urine
4. Back pain
5. Ankylosing Spondylitis