EP11 An unusual presentation of Sweet syndrome

Abstract Background Sweet syndrome (acute febrile neutrophilic dermatosis) is a rare inflammatory disorder affecting individuals between the ages of 30 and 60. It is characterised by painful, edematous, and erythematous skin papules, plaques, or nodules. Fever and leukocytosis (neutrophilia) frequently accompany the skin lesions. A majority of cases are idiopathic but there is a significant proportion attributed to malignancy or medications. Our case is peculiar because of an unusual presentation of a 12-month history of undifferentiated inflammatory arthritis before manifestation as Sweet syndrome. The mainstay of treatment is corticosteroids, although spontaneous resolution has been reported. Treatment of an underlying medical cause may lead to an improvement in Sweet syndrome. Methods A 57-year old British male presented with a 1-year history of intermittent joint pain and swellings in both upper and lower limbs. He had been treated with short courses of oral corticosteroids for undifferentiated inflammatory arthritis. As part of his extensive investigations whilst as a private outpatient, a knee MRI raised suspicion of malignancy, leading him to be referred to haematology and having a bone marrow examination. He was admitted with fever, polyarthritis and skin rash in form of papules around elbows and pustules on tip of some fingers. He was started on empirical antibiotics and reviewed by the Dermatology and Rheumatology teams. A skin biopsy was performed. He continued to have temperature spikes throughout admission and inflammatory markers remained elevated despite being on antibiotics. Results Full blood count showed leucopenia and Iron deficiency anaemia MCV 78 Iron 6 Transferin saturation 15% .Electrolytes, renal and liver function were normal. CRP was elevated at 190 mg/L. Acute infection screen including blood cultures and viral screen were negative. Immunology tests including Anticcp, ANA, ENA, and ANCA were all unremarkable. Echocardiogram was normal. The bone marrow biopsy showed hypercellular marrow with reactive appearances. Full body CT showed no focal signs of infection, lymphadenopathy or malignancy, with the positive findings being only a mildly enlarged spleen. Skin biopsy was consistent with a neutrophilic dermatosis such as Sweet syndrome. Conclusion This case highlights the atypical presentation of classical Sweet syndrome with no obvious underlying cause and no rise in neutrophil count. It also raised our awareness that splenomegaly can be part of Sweet syndrome and does not necessarily mean an underlying haematological disorder. The patient showed remarkable improvement with resolution of synovitis, fever and the rash once restarted on corticosteroids. He has been discharged from haematology as his blood count and CRP have normalised. Although arthralgia and arthritis have been reported in Sweet syndrome, we believe that this the first case in the literature where Sweet syndrome has manifested as undifferentiated inflammatory arthritis. Disclosures A.A.M. Mohamednour None. D. Teo None. V. Rastu None. K. Sunmboye None.

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Introduction to haematology

Oxford Textbook of Medicine ◽

10.1093/med/9780198746690.003.0510 ◽

2020 ◽

pp. 5169-5171

Author(s):

Chris Hatton

Keyword(s):

Bone Marrow ◽

Weight Loss ◽

Diagnostic Tests ◽

Blood Count ◽

Modern Medicine ◽

Blood Film ◽

Full Blood Count ◽

Cellular Infiltration ◽

Haematological Disorder ◽

History Of

Haematology is the study of the composition, function, and diseases of the blood. The approach to a patient suspected of having a haematological disorder begins with taking a history (particularly noting fatigue, weight loss, fever, and history of bleeding) and performing a clinical examination (looking for signs of anaemia, infection, bleeding, and signs of cellular infiltration causing splenomegaly and/or lymphadenopathy). Key investigations include a full blood count, a blood film, and (in selected cases) examination of the bone marrow. Further diagnostic tests now routinely performed on blood and marrow samples include immunophenotyping and cytogenetic and molecular analysis. Mutational signatures may be diagnostically useful and potentially define treatment, keeping haematology in the vanguard of advances in modern medicine.

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A man with recurrent fever, arthritis, and rashes-brucellosis? A case report

BMC Infectious Diseases ◽

10.1186/s12879-019-4746-0 ◽

2020 ◽

Vol 20 (1) ◽

Author(s):

Wen Wang ◽

Xu Lu ◽

Chengbo Li ◽

Myong Jun Ri ◽

Wei Cui

Keyword(s):

Infectious Disease ◽

Bone Marrow ◽

Case Report ◽

Myelodysplastic Syndrome ◽

Skin Biopsy ◽

Rare Case ◽

Glucocorticoid Therapy ◽

Recurrent Fever ◽

Neutrophilic Dermatosis ◽

Case Presentation

Abstract Background We report a rare case of chronic brucellosis accompanied with myelodysplastic syndrome and neutrophilic dermatosis, which to the best of our knowledge, has never been reported. Case presentation A young man was admitted to our hospital complaining of recurrent fever, arthritis, rashes and anemia. He had been diagnosed with brucellosis 6 years prior and treated with multiple courses of antibiotics. He was diagnosed with myelodysplastic syndrome and neutrophilic dermatosis following bone marrow puncture and skin biopsy. After anti-brucellosis treatment and glucocorticoid therapy, the symptoms improved. Conclusions Clinicians should consider noninfectious diseases when a patient who has been diagnosed with an infectious disease exhibits changing symptoms.

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Acute myeloid leukaemia: an unusual cause of biliary strictures

BMJ Case Reports ◽

10.1136/bcr-2018-227821 ◽

2019 ◽

Vol 12 (3) ◽

pp. e227821

Author(s):

Adele Beck ◽

Hannah Hunter ◽

Simon Jackson ◽

David Sheridan

Keyword(s):

Bone Marrow ◽

Obstructive Jaundice ◽

Acute Myeloid Leukaemia ◽

Myeloid Leukaemia ◽

Blood Count ◽

Extrahepatic Bile Duct ◽

White Blood Count ◽

Full Blood Count ◽

Significant Past Medical History ◽

Acute Myeloid

A 17-year-old man with no significant past medical history presented with a 2-week history of worsening jaundice, lethargy, anorexia and progressive right upper quadrant abdominal pain. There were no stigmata of chronic liver disease. Initial investigations were suggestive of cholangitis with large intrahepatic and extrahepatic bile duct strictures but otherwise normal hepatic and splenic appearances. A percutaneous transhepatic cholangiogram with the positioning of drains was performed to alleviate the obstructive jaundice. Within 2 weeks of the first presentation, full blood count revealed a significantly raised white blood count and a subsequent peripheral blood smear and bone marrow were consistent with a diagnosis of acute myeloid leukaemia. Chemotherapy was started after partial improvement of his obstructive jaundice. Complete morphological and cytogenetic remission was obtained 4 weeks after the first cycle of chemotherapy (half dose of daunorubicin and full dose of cytarabine, treated off trial) on control bone marrow. The patient remains in remission.

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Chronic Myeloid Leukemia: Clinical and Laboratory Features At Presentation To a Referral Hospital In Southern Nigeria

Blood ◽

10.1182/blood.v122.21.5174.5174 ◽

2013 ◽

Vol 122 (21) ◽

pp. 5174-5174 ◽

Cited By ~ 1

Author(s):

Kaladada I. Korubo ◽

Hannah Emmanuel Omunakwe ◽

Chijioke A. Nwauche

Keyword(s):

Bone Marrow ◽

Retrospective Study ◽

Clinical Features ◽

Blood Count ◽

Bone Marrow Aspirate ◽

Philadelphia Chromosome ◽

Molecular Techniques ◽

Full Blood Count ◽

Laboratory Parameters ◽

Wbc Count

Abstract Background Chronic Myeloid Leukaemia (CML) is one of the commonly diagnosed leukaemias and has been extensively studied, making it the first malignancy to have a constant identified mutation present which is relevant for diagnosis. CML is also a model for targeted therapy in the treatment of cancer. Before the development of molecular techniques in diagnosis of CML, the clinical and laboratory parameters which included spleen size, total white blood cell (WBC) count, peripheral and bone marrow smears were essential in making a diagnosis of CML. In a developing country with less availability of molecular techniques of diagnosis, these parameters are still invaluable. Here we present an eight year retrospective study of patients who were diagnosed with CML in our center, which is a tertiary referral center in the Niger-Delta zone of Nigeria. Methods We carried out a retrospective study of all CML cases who presented to the department of hematology at the University of Port Harcourt Teaching Hospital, Nigeria, from the year July 2004 – June 2012. Data were extracted from patients' records and included age, sex, absence/presence & duration of symptoms, full blood count and presence of Philadelphia chromosome. Other investigations done were erythrocyte sedimentation rate, uric acid, renal and liver function tests. Diagnosis of CML was made based on clinical features, full blood count, bone marrow aspirate and karyotyping for Philadelphia chromosome where available. The data generated from the above information were analyzed with SPSS statistical package software with results expressed in statistical tables. Results A total of 105 haematological malignancies were seen between July 2004 and June 2012 of which 34 (32.4%) were CML. The mean age of presentation was 32.4 ± 16.2 years (range 19 - 75 years, median 36.5 years). There were 18 males and 16 females. The males had a lower mean age than the females (37.3 vs. 40.4 years) but this was not statistically significant (p=0.59), however the median age of males and females were the same (36 vs. 36.5 years). Males were only slightly more affected than females (male, female ratio 1.1 : 1). No patient was asymptomatic at presentation. The commonest presenting clinical features were splenomegaly (91.2%), anemia (61.8%), fever (50%) and weight loss (50%). One patient had undergone a splenectomy. Seven (20.6%) presented as incidental findings while being investigated for other reasons due to development of complications such as renal failure, hearing loss, priapism, and had a higher mean WBC of 535.7 X 109/L. All the patients presented with leucocytosis (mean 287 X 109/L, range 72-1343 X 109/L). There was no case of thrombocytopenia, but nine (26.5%) had thrombocytosis with a mean platelet count of 639.1 X 109/L. Nineteen (55.9%) had a raised ESR. Bone marrow aspirate findings of all patients typically showed increased cellularity and marked myeloid hyperplasia. Of the total 34 CML patients, 3(8.8%) presented in the accelerated phase and only 1(2.9%) in the blastic phase, majority presented in the chronic phase. Karyotyping for Philadelphia chromosome was done for 12(35.3%) and was positive in all cases. Conclusion CML represented about a third of the haematological cancers seen at our center. Our median age of presentation is lower than Caucasian values (32.4 vs ∼60 years) as reported by other African literature. The males presented at an earlier age than the women although this was not statistically significant. The clinical and laboratory parameters are comparable to international studies, though our patients had very high WBC count at presentation. We did not have any asymptomatic patient. This may be attributed to lack of awareness on the importance of routine medical checkup and evaluation in low resource countries. However, a larger multi-center study is required to corroborate these findings. Disclosures: No relevant conflicts of interest to declare.

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Sweet Presentation of a Bitter Disease: Acute Febrile Neutrophilic Dermatosis Associated with Coccidioidomycoses

SKIN The Journal of Cutaneous Medicine ◽

10.25251/skin.5.2.17 ◽

2021 ◽

Vol 5 (2) ◽

pp. 174-177

Author(s):

Zainab Jafri ◽

Lydia Shedlofsky ◽

Andrew Newman ◽

Travis Lam ◽

Yebabe Mengesha

Keyword(s):

Respiratory Infections ◽

The United States ◽

Neutrophilic Dermatosis ◽

Inflammatory Disorder ◽

Viral Gastroenteritis ◽

Drug Induced ◽

Sweet Syndrome ◽

Acute Febrile Neutrophilic Dermatosis ◽

Exact Etiology ◽

Upper Respiratory

Acute Febrile Neutrophilic Dermatosis, also known as Sweet Syndrome, is an uncommon inflammatory disorder. Though the exact etiology is unclear, it has been presented in association with various entities. The majority of cases present following upper respiratory infections or viral gastroenteritis. Other causes include drug-induced reactions, pregnancy-related manifestations, or in association with specific hematologic or solid tumors. Rarely, it has been associated with Coccidioidomycosis, a prevalent fungus endemic to the Southwestern regions of the United States with a literature review revealing only three previous cases of Coccidioidomycosis-associated Sweet Syndrome. Here we report two new cases in individuals residing in Arizona.

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Two Cases of Severe Hypertension in JAK2 Mutation-Positive Myeloproliferative Neoplasms

Case Reports in Vascular Medicine ◽

10.1155/2020/8887423 ◽

2020 ◽

Vol 2020 ◽

pp. 1-6

Author(s):

Raunak Rao ◽

Spoorthy Kulkarni ◽

Ian B. Wilkinson

Keyword(s):

Bone Marrow ◽

Renal Artery ◽

Renal Artery Stenosis ◽

Bone Marrow Biopsy ◽

Blood Count ◽

Severe Hypertension ◽

Myeloproliferative Neoplasms ◽

Artery Stenosis ◽

Full Blood Count ◽

Jak2 Mutation

Background. Myeloproliferative neoplasms are a heterogeneous group of disorders resulting from the abnormal proliferation of one or more terminal myeloid cells—established complications include thrombosis and haemorrhagic events; however, there is limited evidence to suggest an association with arterial hypertension. Herein, we report two independent cases of severe hypertension in JAK2 mutation-positive myeloproliferative neoplasms. Case Presentations. Case 1: a 39-year-old male was referred to our specialist hypertension unit with high blood pressure (BP) (200/120 mmHg), erythromelalgia, and headaches. We recorded elevated serum creatinine levels (146 μM) and panmyelosis. Bone marrow biopsy confirmed JAK2-mutation-positive polycythaemia vera. Renal imaging revealed renal artery stenosis. Aspirin, long-acting nifedipine, interferon-alpha 2A, and renal artery angioplasty were employed in management. BP reached below target levels to an average of 119/88 mmHg. Renal parameters normalised gradually alongside BP. Case 2: a 45-year-old male presented with high BP (208/131 mmHg), acrocyanosis, (vasculitic) skin rashes, and nonhealing ulcers. Fundoscopy showed optic disc blurring in the left eye and full blood count revealed thrombocytosis. Bone marrow biopsy confirmed JAK2-mutation-positive essential thrombocytosis. No renal artery stenosis was found. Cardiac output was measured at 5 L/min using an inert gas rebreathing method, providing an estimated peripheral vascular resistance of 1840 dynes/s/cm5. BP was well-controlled (reaching 130/70 mmHg) with CCBs. Conclusions. These presentations highlight the utility of full blood count analysis in patients with severe hypertension. Hyperviscosity and constitutive JAK-STAT activation are amongst the proposed pathophysiology linking myeloproliferative neoplasms and hypertension. Further experimental and clinical research is necessary to identify and understand possible interactions between BP and myeloproliferative neoplasms.

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A follow-up audit of the completion of bone marrow specimen request forms at an academic laboratory

Journal of Medical Laboratory Science & Technology of South Africa ◽

10.36303/jmlstsa.2020.2.2.58 ◽

2020 ◽

pp. 96-99

Author(s):

L Budding ◽

M Coetzee ◽

G Joubert

Keyword(s):

Bone Marrow ◽

Clinical Examination ◽

Blood Count ◽

Clinical Information ◽

Full Blood Count ◽

Hiv Status ◽

Medication History ◽

Bone Marrow Specimen ◽

Transfusion History

Background: In order to ensure that patients receive individualised treatment following bone marrow biopsy, it is necessary for clinicians to provide complete clinical information on bone marrow request forms (BMRFs). An audit of BMRFs six years previously showed poor completion, especially with regard to filling in full blood count results, transfusion history, medication history, information about the clinical examination and HIV status. This lead the laboratory to design a new bone marrow specimen request form. We did a follow-up audit to see if the new form had helped to improve the completion rates. Methods: We compared 400 forms to the 357 that were audited in 2013. The following details were recorded: date and time of collection, patient demographics, requesting doctor’s details, clinical information, current medication, transfusion history and HIV status, and details of the procedure completed by technologists, registrars and pathologists. Results: The 2019 follow-up audit showed significant improvements in the completion of the transfusion history, as well as the clinical examination and HIV status. Registrars and pathologists signed off forms regularly. The completion of patient demographic details, and requesting doctors’ names and telephone numbers worsened. Discussion and conclusion: We recommend that the form be simplified so the requesting doctors only need to tick yes or no, in a tick-box format, if a full blood count has been done in the preceding 24 hours. There needs to be a dedicated space for the hospital and laboratory stickers. Only the name and telephone number of one doctor should be requested. This doctor should preferably be the most senior doctor involved with patient care. All referring laboratories and hospitals will be consulted before updating the form. Unfortunately, it seems that the only way to force the completion of request forms is to introduce an electronic order entry system that does not accept incomplete forms.

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Diagnosis and investigation in haematology

10.1093/med/9780199568741.003.0278 ◽

2018 ◽

Author(s):

Chris Bunch

Keyword(s):

Bone Marrow ◽

Blood Count ◽

Iliac Crest ◽

Bone Marrow Examination ◽

Needle Aspiration ◽

Blood Film ◽

Full Blood Count ◽

Clinical Context ◽

Posterior Iliac Crest ◽

Haematological Disorders

This chapter addresses the interpretation of the full blood count, blood film, bone marrow examination, and related tests in the diagnosis of haematological disorders. Examination of a stained blood film, which should always be requested if a blood count abnormality cannot readily be explained by the clinical context, may give clues to the cause of the abnormality or prove diagnostic. Examination of the bone marrow is essential to the proper evaluation and diagnosis of many haematological disorders. The simplest form of marrow examination involves needle aspiration of marrow cells from the posterior iliac crest; smears are made and stained in the same way as a blood film. Bone marrow can also be biopsied for histological examination, at the same time as marrow aspiration.

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Myelodysplasia Following Therapy with Tumour Necrosis Factor-alpha (TNF α) Inhibitors - An Uncommon Occurence.

Blood ◽

10.1182/blood.v108.11.4844.4844 ◽

2006 ◽

Vol 108 (11) ◽

pp. 4844-4844

Author(s):

Anil V. Kamat ◽

Raphael Ezekwesili ◽

Yasser El-Miedany

Keyword(s):

Bone Marrow ◽

Platelet Count ◽

Tumour Necrosis Factor ◽

Neutrophil Count ◽

Lymphocyte Count ◽

Tumour Necrosis ◽

Blood Count ◽

Full Blood Count ◽

Tnf Α ◽

Necrosis Factor

Abstract Introduction-Tumour necrosis factor- alpha (TNF α) inhibitors such as infliximab & etanercept have various applications such as severe rheumatoid arthritis, seronegative spondyloarthritis, vasculitis, crohn’s disease & psoriasis. There have been few reports of haematological complications arising in patients treated with anti-TNF a therapies. There has been only one reported case of development of acute myeloid leukaemia after initiation of etanercept therapy. Case report-A 57year old gentleman with HLA B27 negative ankylosing spondylitis presented with chest infection. His full blood count showed Hb 5.9 g/l WBC 3.8 × 10^9/L Neutrophil count 2.7 × 10^9/L Lymphocyte count 0.7 × 10^9/L Platelet count 89 × 10^9/L & Reticulocyte count 21 × 10^9/L. Occasional myeloblasts were seen on the blood film. He had been on biological therapy for ankylosing spondylitis with infliximab 5mg/kg infusion on 8 weekly basis for 18 months which was stopped due to lack of efficacy. Subsequently he had been treated with etanercept 50 mg subcutaneous once weekly for the past 16 weeks prior to this presentation. His full blood count prior to initiation of infliximab & etanercept was Hb 11.6 g/l WBC 16 × 10^9/L Neutrophil count 12.8 × 10^9/L Lymphocyte count 2.1 × 10^9/L Platelet count 655 × 10^9/L and Hb 11.0 g/l WBC 8.2 × 10^9/L Neutrophil count 4.9 × 10^9/L Lymphocyte count 2.4 × 10^9/L Platelet count 591 × 10^9/L, respectively. He underwent bone marrow investigations. Bone marrow aspirate was aparticulate with dyshaemopoeisis. Dyserythropoeisis in form of irregular nuclei, occasional binucleated cells & delayed nucleo-cytoplasmic maturation was seen along with dysmyelopoeisis in form of binucleated cells & pelger forms. Blasts amounted to 14% of nucleated cells. Overall, impression was in keeping with refractory anemia with excess of blasts (RAEB-2). Trephine biopsy showed mildly hypocellular bone marrow with markedly disordered haemopoeisis. There was trilineage dysplasia with abundant micromegakaryocytes with immunocytochemistry for CD117 showing increased number of progenitors (10–20%). The appearances were in keeping with myelodysplasia with excess of CD117 positive progenitors. Cytogenetic study failed. The sepsis responded to broad spectrum antibiotics but he continues on red cell & platelet support on a weekly basis. Conclusion The chronology points to a TNF α inhibitor mediated effect in this patient. Despite the close temporal association between exposure to TNF α inhibitor therapy and the presentation of myelodysplasia in this patient, a causal relationship cannot be established with confidence. Tumour necrosis factor inhibitors find wide applications in inflammatory conditions with high TNF. Such treatment may be associated with uncommon complications. It is of interest to note there are ongoing trials using TNF α inhibitors in myelodysplastic syndrome. Checking a full blood count periodically, and immediately if the patient is unwell is recommended.

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Congenital JAK2 V617F Polycythaemia Vera Cured with Sibling Allogeneic Bone Marrow Transplantation

Blood ◽

10.1182/blood.v112.11.5227.5227 ◽

2008 ◽

Vol 112 (11) ◽

pp. 5227-5227

Author(s):

Kevin R Kelly ◽

Corrina McMahon ◽

Stephen Langabeer ◽

Hassan Eliwan ◽

Aengus O’Marcaigh ◽

...

Keyword(s):

Bone Marrow ◽

Oral Mucosa ◽

Blood Count ◽

Allogeneic Bone Marrow Transplantation ◽

Jak2 V617f ◽

Jak2 V617f Mutation ◽

Full Blood Count ◽

Polycythaemia Vera ◽

Allogeneic Bone ◽

V617f Mutation

Abstract Polycythaemia vera (PV) is extremely rare in young children. The Janus Kinase 2 V617F mutation is present in 95 % of adult PV patients. Testing is now widely available and has simplified the diagnostic workup. A previously healthy 7 month old girl was admitted to her local hospital with tonsillitis. Full blood count showed polycythaemia (Hb 19 g/dl) along with an elevated platelet (946 ×109/L) and white cell count (19.7 ×109/L). Oxygen saturations, arterial blood gases, chest x-ray, abdominal ultrasound and P50 were all normal. Serum erythropoietin was low. No mutations were identified in exons 7 and 8 of the EPO receptor gene, the Von Hipple Lindau tumour suppressor gene and the Prolyl hydroxylase domain 2 gene. Bone marrow aspirate and biopsy were showed hypercellularity, megakaryocyte hyperplasia and clustering along with erythroid hyperplasia. Cytogenetic analysis was normal. Spontaneous erythroid colonies were demonstrated. The JAK2 V617F mutation was found by polymerase chain reaction in her blood and in her Guthrie card taken at 2 days of age. Both parents and two of her siblings had normal full blood counts. Two further siblings have not had full blood counts. There is no known family history of myeloproliferative disorders. The JAK2 V617F mutation was not detected in the peripheral blood or the oral mucosa of either parent or in the oral mucosa of the patient. She was treated with regular venesection and aspirin 45mg OD was started when her platelet count rose above 1,500 × 109/L. Her clinical course and laboratory parameters remained stable with this treatment and no thromboembolic complications occurred. Due to the long term risks of malignant transformation and thromboembolism a sibling allogeneic bone marrow transplantation was performed with her 6 year old brother as a fully HLA matched, JAK2 V617F negative donor with a normal full blood count. A total nucleated count of 13 ×108 per kg recipient body weight, bone marrow was infused. The conditioning regimen was busulphan (4mg/kg/day × 5 days) and cyclophosphamide (50mg/kg/day × 4 days). Neutrophils rose to 2.6 ×109/L by day 24. No venous occlusive disease or graft versus host disease occurred. Complete donor chimerism and undetectable JAK2 V617F mutation have been observed from day + 14 to present. She remains in remission 15 months post transplant. She now has a normal full blood count and has not suffered any adverse sequelae. To the best of our knowledge this is the first report of prenatal JAK2 V617F PV. It further highlights the genotype-phenotype diversity that is seen amongst this group of JAK2 V617F positive myeloproliferative neoplasms. The frequency of the mutation in pediatric PV has been variably reported in the literature but this report proves that it can occur at all ages. The absence of the mutation in either parent or the oral mucosa of the child shows that this was likely an acquired somatic event that occurred in utero. The JAK2 V617F mutation is thought to be acquired in both familial and sporadic MPD. In a study of 22 families with PV the mutation was present in variable amounts in affected members and absent in unaffected members. Analysis of another single large family with PV showed the presence of JAK2 V617F in affected family members but not in an obligate carrier. This suggests that other genetic abnormalities, possibly inherited, precede the acquisition of the JAK2 V617F mutation. Inheritance of as yet unknown germline mutations may have predisposed towards the in utero acquisition of the somatic JAK2 V617F mutation in our particular case. Young children with PV face a considerable lifetime risk of arterial and venous thrombosis and of malignant transformation. Hemopoetic stem cell transplantation normalises the full blood count and eradicates the pre malignant clone thereby reducing these risks and should be considered early if a suitable donor is available.

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