Heavy Chain Dx Flashcards
What are the five heavy chains
Mu Alpha Delta Gamma Epsilon
Which changes n is IPSI dx
Alpha
Assoc what th IP
SI
D
Early infectious diarrhoea
Lower ses
Malnutrition
Inc Mediterranean
Ipsid
immunoproliferative small intestinal disease
Sites involvement alpha
Alpha: mainly small intestine, mesenteric lymph nodes; gastric and colonic mucosa may be involved, rarely respiratory tract and thyroid; usually not bone marrow or other organs
Sites mu
spleen, liver, bone marrow, blood, usually not lymphadenopathy
Sites gamma
lymph nodes or extranodal, Waldeyer ring, gastrointestinal tract, bone marrow, liver, spleen, peripheral blood, skin, subcutaneous tissue
Clinical features mu
Mu: may resemble chronic lymphocytic leukemia (CLL) but differs in the high frequency of hepatosplenomegaly and absence of peripheral lymphadenopathy; has mixture of plasma cells and B lymphocytes with monoclonal cytoplasmic mu heavy chain; similar slow progression
Clinical features gamma
Gamma: typically associated with systemic symptoms (anorexia, weakness, fever, weight loss, bacterial infections), concurrent autoimmune disease, generalized disease (hepatomegaly, splenomegaly, lymphadenopathy); rarely transforms to large cell lymphoma; disease patterns range from indolent to aggressive
Clinical features alpha
Alpha: typically presents with malabsorption, diarrhea, hypocalcemia, abdominal pain, wasting, fever; patients may die from malnutrition, intestinal obstruction, sepsis or other complications due to massive bowel involvement
Which heavy chain disease is most likely to be associated with underlying autoimmune diseas
Gamma
Genetics gamma
50% abnormal karyotype, my 88 absent
Genetics heavy chain
All have clonally rearranged IgHv région which is what truncates the HC so it can’t bind LC
Absence t11:14 differentiate ipsid from what
MALT
