Intern Emerg Med 2006, Vol 1 No 3 254 7. Doss MO, Gross U, Puy H, et al. Coexistence of hereditary coproporphyria and porphyria cutanea tarda: a new form of porphyria. Med Klin (Munich) 2002; 97: 1-5. 8. Petersen NE, Kaehne M, Christiansen L, Brock A, Hother- Whipple’s disease in a father-son pair Maurizio Ponz de Leon 1 , Athos Borghi 1 , Francesca Ferrara 1 , Miranda Contri 2 , Luca Roncucci 1 1 Department of Medicine and Medical Specialties, 2 Department of Biomedical Sciences, University of Modena and Reggio Emilia, Modena, Italy In 1907, George Whipple reported the occurrence of severe malabsorption (with consequent weight loss), polyarthritis, cough, diarrhoea and mesenteric lymph node involvement in a 36-year-old medical missionary 1 . This was the first description of a new syndrome, and we now refer to it as Whipple’s disease: a systemic condition featured by arthralgias, diarrhoea, malabsorption, and less frequently, central nervous system and cardiac manifestations 2 . Whipple’s disease is a rare illness, which has been described predominantly in white, middle-aged individuals, and appear to be 8 times more frequent in men than in women 2 . The infective nature of Whipple’s disease was proposed in 1952 3 , when a patient responded to antibiotic treatment, and was further confirmed by electron microscopy, in 1961 4 . More recently, the Whipple’s bacillus was identified by polymerase chain reaction (PCR) 5 , and named Tropheryma whipplei. Moreover, new techniques have been developed for culturing the organism 6 . Despite the recent advances in our understanding of Whipple’s disease, the clinical diagnosis remains difficult. In many cases the disease begins insidiously, with arthropathy, myalgia or neurological symptoms that may precede by many years the appearance of malabsorption, diarrhoea and weight loss, i.e., the “full-blown” clinical picture. Definitive diagnosis can be established upon the demonstration of period acid Schiff (PAS)-positive macrophages on duodenal biopsies taken at endoscopy. The histological diagnosis should be confirmed by PCR studies or electron microscopy 2,7 . The rarity of Whipple’s disease, its prevalence in some ethnic groups, the sporadic nature of the infection, and the difficulty in eradicating the responsible organism and achieving complete healing, clearly suggest that other factors should be considered in its pathogenesis. A genetic susceptibility was suggested by the strong association (26% of the patients, 4 times more than expected) with HLA-B27 8 . Moreover, Marth et al. 9 show that many patients have defects in the production of interleukin-12 and of interferon-γ, abnormalities that might impair the ability to clear intracellular organisms such as T. whipplei. Familial data in Whipple’s disease are scanty; to our knowledge, two pairs of brothers, a brother-sister and a father-daughter pair have been reported 10-13 , whereas in most cases the disease neither aggregates in kindreds nor seems to be associated with other clinical conditions. In the present letter we report the occurrence of Whipple’s disease in a father-son pair. There is little information on the proband’s relatives; the father (I-1) died during the second World War at age 54 years, the mother died over 90. In the second generation, two brothers of the proband died of cancer (leukaemia and liver) over the age of 70 years. CS (III-6) died at age 25 from an undifferentiated malignancy of unknown origin. The complete genealogical tree, spanning four generations, is shown in Figure 1. The proband, CR (II-5 of Figure 1), is at present a 75-year- old man, 177 cm tall and weighing 84 kg, who retired many years ago from his job of butcher. In January 1982, he was hospitalised for weight loss, malabsorption and fever. There was no evidence of pancreatic disease, and a xylose test was normal. Because of a mild impairment of liver function tests, the patient underwent liver biopsy, which showed septal fibrosis but no evidence of hepatitis or nodular regeneration. Owing to the development of pleural effusions and a strongly positive to tuberculin skin test, the patient was placed on intramuscular strep- tomycin and other antibiotics against mycobacterium tu- berculosis. The treatment induced a slight general im- provement; the weight (58 kg on admission) increased to 64 kg, the fever disappeared, and the patient was dis- charged. After 6 months, however, he was readmitted to the hospital because of a general worsening of the clinical status. An upper endoscopy showed signs of duodenitis, Nielsen O, Rasmussen K. DGGE analysis of the coproporphyrinogen oxidase gene: two new mutations in DNA from Danish patients with hereditary coproporphyria. Scand J Clin Lab Invest 2000; 60: 617-25. Received 26 January 2006; revised 19 June 2006; accepted 26 July 2006. Address for correspondence: Dr. Maurizio Ponz de Leon, Medicina I, Dipartimento di Medicine e Specialità Mediche, Università degli Studi di Modena e Reggio Emilia, Policlinico, Via del Pozzo 71, 41100 Modena, Italy. E-mail: deleon@unimo.it © 2006 CEPI Srl