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Autosomal Dominant Autoimmune Lymphoproliferative Syndrome Type 1

ALPS


Presentation

  • Both cases presented in neonatal period which is a rare age of presentation in this disease. A 20 days old female neonate presented with respiratory symptoms which rapidly progressed needing ventilatory support.[ncbi.nlm.nih.gov]
Easy Bruising
  • They may also be more likely to have easy bruising and mucocutaneous bleeding caused by thrombocytopenia. In our case, the patient was taken to the emergency room with pallor, petechial, oral haemorrhagic bullae and a platelet count of 4000/µL.[casereports.bmj.com]
Fever
  • A 5-year-old girl presented with fever, vomiting, hypertension, and azotemia. No autoantibodies, viral, or streptococcal antibodies were detected.[ncbi.nlm.nih.gov]
Fishing
  • Fish, J. Hall, G. S. Reid, T. Ryan, C. Sheen, P. Zweidler-McKay and S. A. Grupp, Targeting Notch signaling in autoimmune and lymphoproliferative disease, Blood, 10.1182/blood-2007-05-087353, 111, 2, (705-714), (2008). Valerie I. Brown, Alix E.[doi.org]
  • Chimerism analysis performed by FISH using X- and Y-chromosome probes revealed mixed cell chimera of the T-cell (82% donor) and B-cell fraction (95% donor).[dx.doi.org]
  • Rapamycin improves lymphoproliferative disease in murine autoimmune lymphoproliferative syndrome (ALPS) Blood. 2006b; 108 :1965–1971. [ PMC free article ] [ PubMed ] [ Google Scholar ] Teachey DT, Seif AE, Brown VI, Bruno M, Bunte RM, Chang YJ, Choi JK, Fish[ncbi.nlm.nih.gov]
Weight Gain
  • The risks of long-term steroid treatment include weight gain, elevated blood sugar, thinning of the bones, poor wound healing, difficulty in fighting infections, mood swings, and cataracts.[empowher.com]
  • Possible long-term side effects of steroids Thinning of bones Poor wound healing Difficulty fighting infection Cataracts of the eyes Mood swings Weight gain Elevated blood sugar Other treatments Blood transfusions are useful to replace red blood cells[daviddarling.info]
Hunting
  • Hunt, Mycophenolate mofetil in a case of relapsed, refractory thrombotic thrombocytopenic purpura, European Journal of Haematology, 78, 5, (449-452), (2007). V. Koneti Rao, Kennichi C. Dowdell, Janet K. Dale, Faith Dugan, Lesley Pesnicak, Lilia L.[doi.org]
Splenomegaly
  • It presents with chronic lymphadenopathy, splenomegaly, and symptomatic multilineage cytopenias in an otherwise healthy child.[dx.doi.org]
  • All five children had splenomegaly, cytopenias, and hypertriglyceridemia at presentation; four had lymphadenopathy. Mutations in the Fas receptor gene were demonstrated in three children.[ncbi.nlm.nih.gov]
Pleural Effusion
  • In addition, there were a macular skin rash with telangiectasia and perivascular lymphocyte infiltration, a cytopenia without abnormal cells, a hepatosplenomegaly, a pericardial thickness with effusion and pleural effusion.[ncbi.nlm.nih.gov]
Vomiting
  • A 5-year-old girl presented with fever, vomiting, hypertension, and azotemia. No autoantibodies, viral, or streptococcal antibodies were detected.[ncbi.nlm.nih.gov]
Hypotension
  • A low-grade fever, intermittent hypotension and confusion were associated with the pain. The evaluation revealed multiple joint bony erosions with effusion and a ruptured Baker's cyst and positive AFB testing on the joint biopsy of the right wrist.[ncbi.nlm.nih.gov]
Petechiae
  • Emphasize to patients and their parents or guardians (if ALPS is diagnosed in a pediatric patient) that immediate medical attention should be sought for systemic constitutional symptoms or signs of low platelets like petechiae or mucosal bleeding.[emedicine.medscape.com]
  • Little red spots called petechiae may show up on the skin, and some patients have skin rashes. The spleen, lymph nodes, and liver may be enlarged. The condition usually shows up during childhood, but adults can also develop it.[empowher.com]
  • Little spots called petechiae may also show up on the skin when platelets are low. Very low white blood cell counts (autoimmune neutropenia), creating a risk for bacterial infection.[daviddarling.info]
Delayed Wound Healing
  • It is mostly well tolerated (though side effects include mucositis, diarrhea, hyperlipidemia, delayed wound healing) with drug-drug interactions.[en.wikipedia.org]
Osteoporosis
  • Moreover, over the long term, corticosteroids increase the risk of osteoporosis and vulnerability to infection.[scienceblog.com]
  • […] anemia, and CAPS Discontinuing anticoagulation in highly selected patients when the triggers are eliminated and full remission of antibody observed 24 TREATMENT: PREGNANCY MORBIDITY Unfractionated or LMWH is used but lower risk of thrombocytopenia and osteoporosis[slideplayer.com]
Arthralgia
  • He presented with multiple non-invasive infections of the skin, that were associated to chronic non-malignant non-infectious lymphadenopathy, failure to thrive, weakness, arthralgia, relapsing oral aftosis, and expansion of TCRαβ( ) CD4(-)/CD8(-) T cells[ncbi.nlm.nih.gov]

Workup

  • A complete workup was confirmative of a germline Fas mutation consistent with ALPS-FAS. This case emphasizes the importance of considering ALPS-FAS in a patient with lymphadenopathy of unknown cause.[ncbi.nlm.nih.gov]
  • Figure 1 Suggested algorithm for diagnostic workup for patients with suspected ALPS. ALPS indicates autoimmune lymphoproliferative syndrome; and DNT, double-negative T lymphocytes. Classification of ALPS-related disorders.[doi.org]
  • A careful history and workup were needed to exclude other possible etiologies for the patient's symptoms and physical findings. ALPS often carries significant morbidity and is best managed through a multidisciplinary approach.[ingentaconnect.com]
  • The diagnostic workup for ALPS after a lymph node biopsy should include flow cytometry, immunohistochemical evaluations, or molecular studies that rule out clonal B- and T-cell population.[dx.doi.org]
Erythroblast
  • Pure red cell aplasia is characterized by normochromic normocytic anemia, reticulocytopenia, and absence of erythroblasts from a normal bone marrow. Only few lymphoproliferative disorders have been associated with erythroid aplasia.[ncbi.nlm.nih.gov]
Normocytic Anemia
  • Pure red cell aplasia is characterized by normochromic normocytic anemia, reticulocytopenia, and absence of erythroblasts from a normal bone marrow. Only few lymphoproliferative disorders have been associated with erythroid aplasia.[ncbi.nlm.nih.gov]
Hypertriglyceridemia
  • All five children had splenomegaly, cytopenias, and hypertriglyceridemia at presentation; four had lymphadenopathy. Mutations in the Fas receptor gene were demonstrated in three children.[ncbi.nlm.nih.gov]
Pleural Effusion
  • In addition, there were a macular skin rash with telangiectasia and perivascular lymphocyte infiltration, a cytopenia without abnormal cells, a hepatosplenomegaly, a pericardial thickness with effusion and pleural effusion.[ncbi.nlm.nih.gov]

Treatment

  • We present 2 patients, a 5-year-old girl and 15-year-old boy, diagnosed with ALPS with initial partial response to steroid treatment. Autoimmune cytopenias and lymphoproliferation then became refractory to treatment, with recurrence of symptoms.[ncbi.nlm.nih.gov]

Prognosis

  • Although the clinical course of ALPS is highly variable, without treatment long-term prognosis is unsatisfactory for most patients. ALPS has been treated with most of the existing immunosuppressive agents, with variable success.[ncbi.nlm.nih.gov]
  • Prognosis The prognosis for ALPS patients remains guarded. ALPS-FAS patients have a significantly increased risk of non-Hodgkin's and Hodgkin's lymphoma which can occur at any age and responds to conventional chemotherapy.[orpha.net]
  • Although the clinical course of ALPS is highly variable, without treatment long‐term prognosis is unsatisfactory for most patients. ALPS has been treated with most of the existing immunosuppressive agents, with variable success.[doi.org]
  • Prognosis Long-term prognostic data are lacking, because this is a rare and recently identified disease. ALPS patients can live into adulthood. [ 5 ] Symptoms may improve as the patient ages.[patient.info]
  • We have recently published a summary of this topic to improve clinical care and prognosis.[grantome.com]

Etiology

  • OBJECTIVE: Identify the etiology of elevated B(12) in autoimmune lymphoproliferative syndrome (ALPS). DESIGN: Peripheral blood of ALPS patients with elevated B(12) and controls were evaluated.[ncbi.nlm.nih.gov]
  • Certain conditions have both an underlying etiology and multiple body system manifestations due to the underlying etiology.[icd10coded.com]

Epidemiology

  • Summary Epidemiology The prevalence of ALPS is unknown. It has been characterized in more than 500 patients to date and has been reported worldwide in various ethnic groups.[orpha.net]
  • Bennett and Michael Tarantino, Chronic Immune Thrombocytopenia in Children: Epidemiology and Clinical Presentation, Hematology/Oncology Clinics of North America, 23, 6, (1223), (2009). V.[doi.org]
  • Presentation transcript: 1 Antiphospholipid Syndrome 2 The antiphospholipid syndrome is an autoimmune disease that is characterized clinically by vascular thrombosis and pregnancy morbidity, and serologically by the presence of antiphospholipid Ab s 3 EPIDEMIOLOGY[slideplayer.com]
Sex distribution
Age distribution

Pathophysiology

  • As the pathophysiology of ALPS is better characterized, a number of targeted therapies are in preclinical development and clinical trials with promising early results.[ncbi.nlm.nih.gov]

Prevention

  • This produced a dominant-interfering FasL protein that bound to the wild-type FasL protein and prevented it from effectively inducing apoptosis.[ncbi.nlm.nih.gov]

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