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Autoimmune Lymphoproliferative Syndrome (ALPS)

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Clinical and Laboratory Findings

Table I. Clinical and Laboratory Findings in Index Cases with ALPS

Accumulation of lymphoid cells 100%
Lymphadenopathy 96%
Splenomegaly 95%
Hepatomegaly 72%
Splenectomy 49%
Chronic pulmonary infiltrates 4%
Lymphoma 11% (22/200)
Age at presentation 1.8± 1.8 years (mean± SD of 54 cases)
 
Autoimmune disease
Hemolytic anemia 29%
Immune-mediated thrombocytopenia 23%
Neutropenia 19%
Urticaria 13%
Glomerulonephritis 1%
Guillain-Barré syndrome 5%
Autoimmune hepatitis 6%
Iridocyclitis 0.7%
 
Other common clinical manifestations
Skin rash, nearly all patients
Arthritis
Vasculitis
 
Laboratory findings
Elevated DNTs 100%
Defective lymphocyte apoptosis in all with germline FAS mutation
Fas mutation 72%
FASLG and Caspase 10 mutation <1%
Hyper IgG, A, or M, common
Elevated plasma IL-10 in most patients
Elevated serum Vitamin B12 levels in most patients
Coomb's Direct Antiglobulin Test (DAT) positive 73%
CT and FDG-PET scans featuring ALPS-FAS-associated lymphadenopathy and slenomegaly.

 

More illustative examples of FDG-PET and CT scan appearances of some ALPS-FAS patients show splenomegaly and lymphadenopathy.

 

Causes and consequences of splenectomy in a subset of 34 ALPS-FAS patients who have undergone long-term follow-up in our clinic.

Salient aspects of management and prognosis of ALPS

Diagnosis and genetic counseling at presentation
Significant number of ALPS patients do not need any intervention for asymptomatic lymphadenopathy and splenomegaly that often seems to get better with age
Use of spleen guards made of thermoplastic material for protecting enlarged spleens from trauma
Avoid splenectomy
For unavoidable surgical asplenia: use 13 valent conjugate and 23 valent polysaccharide vaccines against pneumococcal sepsis
Med alert bracelet, fever alert, and long-term antibiotic prophylaxis
Autoimmune cytopenias: short-term steroids and IVIG
Steroid-sparing measures: mycophenolate mofetil and sirolimus
Vigilance for lymphoma: role of periodic CT and FDG-PET scans
Deaths (13 of 257 patients) in our cohort: death resulting from sepsis with asplenia (9), malignancies (4)

Reference

Rao VK, Oliveira JB. How I treat autoimmune lymphoproliferative syndrome. Blood. 2011 Nov 24;118(22):5741-51.

Last Updated January 23, 2012