The Value of Splenectomy in Fanconi's Anaemia

Abstract

The syndrome described by Fanconi (1927), which consists of hypoplastic anaemia, multiple anatomical defects and pigmentation of the skin is now well recognized though uncommon; some 28 cases have been recorded.This report is made with the object, not only of placing on record the features of two cases, but of examining the place of splenectomy in treatment. In nine instances splenectomy has now been performed and the results have been unsatisfactory. Opinions as to the value of operation and the indications for performing it differ, though it is generally agreed to be valueless if marrow hypoplasia is extreme.Case Report Dorothy M., aged 8 (born on June 13, 1944), was the only child of a second marriage. There were four children from previous marriages of her parents, and these children were all normal. There was no history of anaemia or congenital abnormality in any other member of the family. The parents of the child were healthy and their blood counts were normal.She had always been well, apart from an attack of measles, followed by pneumonia, when she was aged 6.The parents denied that she was ever lacking in energy, and had not noticed that her appearance was in any way unusual. A month before admission, she had bled from the nose and throat for two days, and had been pale ever since.On adrnission, the child was found to be very small. No abnormality could be found in the heart or lungs, and there was no lymphadenopathy, splenomegaly or hepatomegaly. There was no abnormality of the external urogenital system and the central nervous system appeared normal.Investigations. A full blood count gave: haemoglobin, 37% (5-4 g. %); red blood cells, 152 million; colour index, 1*23; white blood cells 6,400 (polymorphs 29%, lymphocytes 66%, monocytes 3%, basophils 2%, reticulocytes 4 4%). Red blood cells showed anisocytosis and poikilocytosis. Cells were fully haemoglobinized. There were no spherocytes, target cells or sickle cells. Haemolysis was incomplete at 0 45%, complete at 0 3%. The direct Coombs test was negative and no warm or cold agglutinins were detected by Dacie's method.

Clinical and chromosome studies in Fanconi's aplastic anaemia.

“…The commonest causes of death are acute leukaemia, septicaemia, and cerebral or intestinal haemorrhage. Mean survival is around two years, but after splenectomy survival times of 12j and 10 years have been reported by Nelson et al (1964) and Francis, Moir, and Swift (1955), respectively. Androgen and steroid therapy combined, as suggested by Shahidi and Diamond (1959), has also produced temporary improvement.…”

Pancytopenia with Congenital Defects (Fanconi's Anaemia)

“…Shortness of stature, hypogonadism and abnormalities of the nervous system, including mental retardation and hyperreflexia, were not infrequently reported as were renal anomalies. The last took the form of a single kidney (Kunz, 1952;Levy, 1952;Reinhold et al, 1952;Kessell and Cohen, 1953;Cowdell, Phizackerley and Pyke, 1955;Dawson, 1955); ectopic position of one kidney (Beautyman, 1951;Francis, Moir and Swift, 1955) and, in one case, a horse-shoe kidney (Dacie and Gilpin, 1944). Congenital cardiac anomalies were occasionally found.…”

“…There is no known curative treatment. All types of haematinics have been tried and steroids have been used in some of the cases reported (Kunz, 1952;Kessell and Cohen, 1953;Francis et al, 1955) as well as by ourselves.…”

Fanconi’s Anaemia and Dyskeratosis Congenita as a Syndrome

“…Histological changes de scribed in single cases are varied and insignificant. The melanin concentration in stratum papillare w ith the normal am ount of pigment in the epidermis is remarkable [1,16]. Besides skin changes, dystrophical changes in the nail plates and leukoplakia belong to the DCg triad.…”

“…Cases are described where typical bone marrow and peripheral blood changes were combined with characteristic skin alterations [1,32] or only with congenital defects [20,21,25]. In some patients, besides distinct pancytopenia and hyperpigm entation, very discreet congenital abnorm alities were present, such as a thinned tot' [1,16] or thumb [28]. It should be stressed that in familial cases of FA besides a disease with all symptom s, abortive forms were found in brothers and sisters [10,12,20,28,31].…”