Vertebral artery thrombosis: a rare presentation of primary polycythaemia.

Primary polycythaemia, also known as polycythaemia vera (PV), is a myeloproliferative neoplasm (MPN) which is associated with arterial and venous thrombosis and which can contribute to significant morbidity and mortality if untreated. Arterial thrombosis accounts for a large proportion of PV-related thrombotic events which may manifest as stroke and myocardial infarction. There is an abundance of literature documenting thrombosis arising in the cerebral vasculature secondary to PV. However, vertebral artery thrombosis associated with PV has not been previously described. We present a case of vertebral artery thrombosis as the presenting manifestation of PV. This case demonstrates the importance of recognising MPNs as a cause of an unusual presentation of thrombosis.

Successful treatment of aplastic variant of hairy-cell leukaemia with deoxycoformycin.

The case of a patient with the aplastic variant of hairy cell leukaemia, successfully treated with the drug Deoxycoformycin(Pentostatin), is presented. It is very important to be aware of this rare variant of a rare disease so that the right treatment can be offered.

Fatal cold anti-i autoimmune haemolytic anaemia complicating hairy cell leukaemia.

Hairy cell leukaemia (HCL) is a rare lymphoproliferative disorder associated with pancytopenia, splenomegaly and the presence of typical hairy B lymphocytes in the bone marrow and/or peripheral blood. The most significant complication relates to opportunistic infections that arise as a consequence of neutropenia and monocytopenia. HCL is occasionally associated with systemic autoimmune disorders including polyarteritis nodosa and rheumatoid disease. Secondary autoimmune haemolytic anaemia (AIHA) appears to be rare. We report on two cases of HCL complicated by fatal cold anti-i AIHA. Fulminant haemolysis causing death is rare in cold AIHA and only a few individual cases have been reported, none having anti-i specificity.

Avascular necrosis of bone following intensified steroid therapy for acute lymphoblastic leukaemia and high-grade malignant lymphoma.

Five out of nine adults (55%) with lymphoblastic disease developed severe avascular necrosis of bone (AVN) when treated with a Berlin-Frankfurt-Munster (BFM) ALL protocol similar to the current joint MRC-ECOG ALL trial (UKALL XII). The principal purpose of these intensified regimens is to improve long-term disease-free survival without necessarily increasing toxicity and secondary morbidity. The presentation of all five was non-specific bone pain occurring after the re-intensification block of chemotherapy containing high doses of dexamethasone. Three types of diagnostic imaging were performed and magnetic resonance imaging (MRI) proved superior in demonstrating AVN and showed it at an earlier stage than plain radiographs or isotopic scans. We believe that the dose of corticosteroids was the major factor in the development of AVN. The five men in our series all remain in first remission with a median disease-free survival of 3.5 years (range 2-8 years) but with varying degrees of disability due to AVN. Clinicians involved in UKALL XII and similar trials should be aware of this debilitating and potentially crippling complication when using high-dose steroid-containing regimens, perform MRI scan early and modify treatment if necessary.

Acute non-lymphocytic leukemia with t(16;21).

A patient with ANLL FAB subtype M1 was found to possess a t(16;21)(p11;q22) and trisomy 10. The 16;21 translocation has been reported in 12 other cases of ANLL, of various subtypes, and its relationship to the disease profile is discussed.

Bilateral papillitis with anti-neutrophil cytoplasmic antibodies associated with coeliac disease.

A 39 year old woman with untreated coeliac disease presented with some of its complications and bilateral papillitis. She was found to have antineutrophil cytoplasmic antibodies (ANCA) in high titres. Following institution of gluten-free diet the complications resolved. The papillitis, however, persisted and needed a course of prednisolone to resolve, and a fall in the ANCA titres was noted. We believe that this is the first report of an association of coeliac disease and ANCA.

Insulin-dependent diabetes mellitus, myasthenia gravis, pernicious anaemia, autoimmune thyroiditis and autoimmune adrenalitis in a single patient.

Two classical autoimmune polyendocrine deficiency syndromes with heritable tendencies are described, Type 1 diabetes mellitus being associated with the Type 2 polyendocrine deficiency syndrome (Schmidt's syndrome). A man with Type 1 diabetes mellitus is described who developed an unusual combination of five autoimmune conditions (myasthenia gravis, Addisonian pernicious anaemia, adrenalitis and thyroiditis) which did not fit into the Type 1 or Type 2 classical polyendocrine deficiency syndromes. This suggests that the autoantibody, biochemical and haematological screening of affected individuals and their relatives should be extended to anticipate a wider range of potential autoimmune conditions.

Familial primary biliary cirrhosis and autoimmune thrombocytopenia.

Primary biliary cirrhosis (PBC) is described in two sisters, one of whom presented with autoimmune thrombocytopenia. Taken together with reports of platelet autoantibodies in PBC this case may indicate a place for immunosuppressive agents in the treatment of thrombocytopenia in PBC.