RESUMEN
BACKGROUND: Congenital analbuminemia (CAA) is a very rare disorder. Our data describes the clinical features and laboratory results of a new case established by mutation analysis of the albumin gene in a 39-year-old woman presenting with hypercholesterolemia. Our findings contribute to shed light on the molecular genetics of the disorder and confirm that safe and well tolerated hypocholesterolemic treatment with atorvastatin may be administered in dislipidemic patient with CAA in order to reduce their cardiovascular risk. CASE SUMMARY: Our patient presented with a history of hypercholesterolemia and referred asthenia and heaviness in both legs. She was born from healthy and non-consanguineous parents and her development was normal. She had not familiarity for early cardiovascular disease, and did not report personal history of hypertension, chronic kidney or liver diseases. Clinical laboratories results showed critically reduced value of albumin whereas other serum proteins were elevated. Main causes of hypoalbuminemia (proteinuria, inflammatory state and insufficient hepatic synthesis) were ruled out by normal procedures and laboratory tests. So the hypothesis of a CAA was tested through mutation analysis of the albumin gene that revealed a homozygous CA deletion in exon 12, at nucleotide positions c1614-1615. This finding brought to the diagnosis of CAA. Currently the patient receives Atorvastatin 20 mg od and undergoes clinical and laboratory follow-up every six months. She never needed albumin infusions. CONCLUSION: Our experience shows how treatment with atorvastatin may be safely administered and well tolerated in patients affected by CAA.
RESUMEN
RATIONALE: Type I cryoglobulinemia is a rare and life-threatening condition. It occurs mainly in B-cell lymphoproliferative disorder. In almost half of the patients, type I cryoglobulinemia is characterized by severe cutaneous involvement. PATIENT CONCERNS: A 71-year-old man comes to our observation because of the onset of persistence of paresthesia and painful acrocyanosis in the fingers and toes. IgG-k multiple myeloma treated with chemotherapy and radiation therapy on the left iliac wing characterized his clinical history. At the evaluation of response after the first-line therapy, the patient achieved a very good partial response. At the time of progression, the same myelomatous disease has taken a typical behavior of cryoglobulinemia. DIAGNOSES: Type I multiple myeloma-associated cryoglobulinemia was diagnosed. INTERVENTIONS: The patient underwent to an immediate composite therapeutic approach based on prostanoid infusion, plasmapheresis along with second-line chemotherapy. OUTCOMES: Despite the rapid biochemical response, the ischemia of the feet worsened. Moreover, a bacterial infection overlapped. The surgical amputation of both feet was necessary. Allowing MM cytoreduction continuation the patient's clinical condition became stabilized. LESSONS: Though rare, type I cryoglobulinemia can be associated with plasma cell dyscrasias. Any delay in diagnosis and the start of therapy can cause worsening of organ damage and endanger the patient's life. Therapeutic strategies in these cases should be directed to the underlying diseases.
