[The 486th case: chronic diarrhea and orthostatic hypotension].

A 57-year-old man was admitted to hospital with diarrhea for 10 months and dizziness for 4 months. The patient had 1-2 liters watery stool per day, without pyogenic blood or abnormality in gastroenteroscopy examination. The level of hemoglobin and albumin was generally normal, and fasting test was positive. At the same time, he was accompanied with hyperalgesia of lower limbs and orthostatic hypotension. After the discussion of multiple disciplinary teams, the patient was diagnosed with amyloidosis by sural nerve biopsy, myocardial MRI, and the assays of urine immunoelectrophoresis and serum free light chain. Light chain amyloidosis was confirmed after excluded the diagnosis of familial amyloidosis. The patient was improved after courses of chemotherapy with melphalan and dexamethasone.

[Quality of life of 22 patients with type 1 Gaucher disease after enzyme replacement therapy].

Objective: To investigate the living status and quality of life (QOL) in type1 Gaucher disease (GD1) patients who underwent long-term enzyme replacement therapy (ERT) and identify possible relevant factors affecting QOL. Methods: Clinical data and SF-36 questionnaires were recorded in 22 adult GD1 patients under regular ERT at Peking Union Medical Colleague Hospital (PUMCH) from January 1995 to June 2017. Results: 13 males and 9 females were included in this study. The current median age, age at diagnosis and initial time of ERT were 41 (24-52) , 6 (1-38) and 26 (6-41) years respectively. Of these patients, 68.2% was living in less-developed regions, 86.4% were under college education, and 77.3% had personal annual income less than ¥30 000 RMB. Though after a median 16 (7-22) years of ERT, the QOL of GD1 patients was still significantly worse (P<0.05) compared with normal Chinese population based on SF-36 questionnaires. History of splenectomy was a negative factor of QOL, mainly in physical health (P<0.05) . Patients could get benefit from early start of ERT in both physical and mental health (P<0.05) . Mental health was not affected by history of splenectomy and related bone diseases. Conclusion: Most adult GD1 patients at PUMCH reside in less-developed regions and have low levels of education and annual income. History of splenectomy and time to start ERT are two important factors affecting QOL. Chinese adult GD1 patients are associated with reduced QOL, even after long-term ERT.

[Purpura fulminans related to paroxysmal nocturnal haemoglobinuria: a case report and literatures review].

Objective: To improve the understanding of the rare clinical presentation and management of purpura fulminans (PF) in patients with paroxysmal nocturnal haemoglobinuria (PNH). Methods: A case of PF occurring in PNH is reported, while the related literature review is conducted. Results: A 49-year-old male patient suffered from one-week history of fever, greenish-brown colour urine, multiple well demarcated and painful purpura of the head and neck. He had been reported to have two thromboembolic events during the 22-year course of PNH. Skin biopsy displayed classic PF features. Laboratory testing showed a high PNH clone, intravascular hemolysis and coagulation system changes. After sufficient anticoagulation and short course of glucocorticoid therapy, the clinical conditions were improved correspondingly. During a follow-up period of 6 month, there was no recurrence of thrombosis. Conclusion: PF should be considered in PNH patients with unexplained, quickly developed painful purpura. Extensive work-up should be performed to find out other potential thrombophilic risk factors after diagnosis of PF. Early diagnosis, adequate anticoagulation therapy and control hemolysis were essential to PF treatment occurring in PNH. The survival of patients and the qualities of life can be improved. The PNH clone detection is needed to evaluate the status of procoagulation and predict the risk of recurrent thrombosis.

[Effect of sirolimus on erythropoiesis of K562 cell line and patients with pure red cell aplasia in vitro].

Objective: To understand the effect of sirolimus on the erythropoiesis of K562 cell line and bone marrow cells from pure red cell aplasia (PRCA) patients and normal controls. Methods: Different concentrations (10, 100, 1 000 nmol/L) of sirolimus were added to the K562 cell line or bone marrow cells from PRCA patients or normal controls and cultured 14 days for BFU-E formation. Meanwhile, sirolimus was also added to the serum treated PRCA bone marrow cells to cultivate for the same priod of time. Results: Neither K562 cells, bone marrow cells from PRCA patients or normal controls showed any difference when sirolimus was added to the culture system for BFU-E. However, BFU-E formation decreased after serum was added in PRCA patients (76.40±22.48 vs 136.33±12.58, t=-4.329, P=0.001) and this suppression of BFU-E was partly corrected by 1 000 nmol/L sirolimus treatment (97.14±15.83 vs 76.40±22.48, P=0.038). Conclusions: Sirolimus may modulate the suppression of erythropoiesis by serum instead of directly stimulate the growth of red blood cells in PRCA patients.