Partial lipodystrophy type 2 : One case report and literature review / 中华内分泌代谢杂志

Familial partial lipodystrophy type 2 (FPLD2) is an autosomal dominant disorder caused by mutations in LMNA gene,which is characterized by adolescent onset selective subcutaneous fat loss with metabolic abnormalities such as insulin resistance.Severe insulin resistance can cause acanthosis nigricans,pseudoacromegaly,ovarian dysfunction,glucose,and lipid metabolism disorders.Therefore,it is often misdiagnosed as metabolic syndrome,type 2 diabetes,polycystic ovary syndrome,acromegaly,and Cushing's syndrome.Through the analysis of the diagnosis and treatment of a case of FPLD2 with acromegaly,and the importance of tracing the origin of the disease is emphasized and also does the role of genetic testing in diagnosis.It suggests that clinicians should pay attention to the fat distribution of those similar patients,and make diagnosis and treatment timely.

Coexistencia de acromegaloidismo y cáncer de pulmón / Coexistence of acromegaloidism and lung carcinoma

El acromegaloidismo es una entidad en la cual se encuentran presentes algunos rasgos acromegálicos sin evidencia bioquímica de hipersecreción de hormona de crecimiento (GH), siendo la resistencia insulínica una de las posibles etiologías. Se presenta un paciente con rasgos acromegálicos, proceso neoplásico en pulmón izquierdo, acantosis nigricans (AN) generalizada y marcada resistencia a la insulina (IR). Se descartó acromegalia ante la presencia de una IGF1 normal y GH < 1 ng/ml a los 120 min en el test de tolerancia oral a la glucosa (TTOG). La acantosis nigricans puede presentarse como síndrome paraneoplásico (SPN) o puede estar asociada a enfermedad benigna en la cual está involucrada la insulinorresistencia (IR). El acrome-galoidismo está descripto en pacientes con IR grave como el caso que estamos presentando, postulándose que niveles muy elevados de insulina podrían estimular el crecimiento tisular o acral actuando a través del receptor de insulina que conservaría el mecanismo de mediar efectos anabólicos, o alternativamente a través del receptor de IGF1. No encontramos en la literatura la presencia de acromegaloidismo como SPN. En conclusión, presentamos un paciente con IR grave, pseudoacromegalia y AN, coexistiendo con un cáncer de pulmón. Tanto el acromegaloidismo como la AN parecen ser consecuencia de la marcada hiperinsulinemia. Aún así, no podemos descartar que la AN pudiera corresponder a un SPN.

Acromegaloidism is a condition characterized by features of acromegaly without biochemical evidence of excessive growth hormone (GH) production. Insulin resistance is one of the possible etiologies. We report the case of a patient with acromegalic features, a left lung neoplastic process, generalized acanthosis nigricans and severe insulin resistance. Normal IGF 1 and GH inhibition below 1 ng/ml by the oral glucose tolerance test ruled out the diagnosis of acromegaly. Acanthosis nigricans (AN) may be present as a paraneoplastic syndrome or may be associated to benign pathology in which insulin resistance is involved. Acromegaloidism has been reported in patients with severe insulin resistance as we are describing here. It is possible that very high insulin levels can stimulate excessive acral growth acting through insulin receptors that retain the ability to mediate anabolic effects, or alternatively through the IGF1 receptor. We found no data of acromegaloidism as a paraneoplastic syndrome. To summarize, we report a case of severe insulin resistance, pseudoacromegaly and AN, coexisting with a lung carcinoma. Acromegaloidism and AN appear to be due to insulin resistance, even though in this patient we cannot exclude that AN could be a paraneoplastic syndrome.